Variant report

Variant	esv3373787
Chromosome Location	chr22:23521577-23524125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23523715-23523919	K562	blood:	n/a	n/a
2	ARID3A	chr22:23521829-23522008	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23521656-23523361	K562	blood:	n/a	n/a
4	ATF3	chr22:23520534-23526374	K562	blood:	n/a	chr22:23522614-23522623 chr22:23525736-23525745
5	BACH1	chr22:23523248-23523648	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr22:23523574-23526581	K562	blood:	n/a	n/a
7	BACH1	chr22:23522173-23522192	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr22:23520646-23522641	K562	blood:	n/a	n/a
9	BHLHE40	chr22:23520618-23526307	K562	blood:	n/a	n/a
10	BHLHE40	chr22:23521763-23521990	GM12878	blood:	n/a	n/a
11	BHLHE40	chr22:23522528-23523161	GM12878	blood:	n/a	n/a
12	BRCA1	chr22:23522409-23522511	HepG2	liver:	n/a	n/a
13	CBX3	chr22:23520526-23522796	K562	blood:	n/a	chr22:23520879-23520890
14	CBX3	chr22:23520451-23527677	K562	blood:	n/a	chr22:23520879-23520890
15	CBX3	chr22:23523044-23526023	K562	blood:	n/a	n/a
16	CCNT2	chr22:23520684-23525318	K562	blood:	n/a	n/a
17	CEBPB	chr22:23522473-23522692	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr22:23523736-23523931	K562	blood:	n/a	n/a
19	CEBPD	chr22:23522283-23522917	HepG2	liver:	n/a	n/a
20	CHD2	chr22:23522448-23523024	GM12878	blood:	n/a	chr22:23522665-23522675
21	CHD2	chr22:23522529-23522808	Hela-S3	cervix:	n/a	chr22:23522665-23522675
22	CHD2	chr22:23521394-23526378	K562	blood:	n/a	chr22:23525737-23525747 chr22:23522665-23522675
23	CHD2	chr22:23521998-23522099	HepG2	liver:	n/a	n/a
24	CREB1	chr22:23522444-23523065	A549	lung:	n/a	n/a
25	CREB1	chr22:23521551-23523487	HepG2	liver:	n/a	n/a
26	CTCF	chr22:23522420-23522570	NHLF	lung:	n/a	n/a
27	CTCF	chr22:23522460-23522610	SK-N-SH_RA	brain:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
28	CTCF	chr22:23521620-23521770	GM12864	blood:	n/a	n/a
29	CTCF	chr22:23522492-23522589	MCF-7	breast:	n/a	n/a
30	CTCF	chr22:23522260-23522410	SAEC	small airway:	n/a	n/a
31	CTCF	chr22:23522320-23522470	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr22:23522480-23522630	GM12875	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
33	CTCF	chr22:23522480-23522630	SAEC	small airway:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
34	CTCF	chr22:23522440-23522590	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr22:23522214-23522888	K562	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
36	CTCF	chr22:23522460-23522610	GM12869	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
37	CTCF	chr22:23522480-23522630	GM12874	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
38	CTCF	chr22:23520061-23521731	SK-N-SH	brain:	n/a	chr22:23520803-23520816 chr22:23520800-23520818 chr22:23520802-23520823
39	CTCF	chr22:23522516-23522520	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr22:23522142-23523938	K562	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
41	CTCF	chr22:23522320-23522470	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr22:23522360-23522510	GM06990	blood:	n/a	n/a
43	CTCF	chr22:23522520-23522670	GM12875	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
44	CTCF	chr22:23522480-23522630	AG04449	skin:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
45	CTCF	chr22:23522460-23522610	GM12868	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
46	CTCF	chr22:23522311-23523048	K562	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
47	CTCF	chr22:23522480-23522630	AG09319	gingival:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
48	CTCF	chr22:23522500-23522650	GM12874	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
49	CTCF	chr22:23522539-23522611	NHEK	skin:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593
50	CTCF	chr22:23522480-23522630	GM12864	blood:	n/a	chr22:23522584-23522597 chr22:23522581-23522594 chr22:23522581-23522599 chr22:23522584-23522593

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23522341-23522391	BE2_C	brain:	n/a
2	chr22:23522460-23522510	A549	lung:	n/a
3	chr22:23522341-23522391	BE2_C	brain:	n/a
4	chr22:23522460-23522510	A549	lung:	n/a
5	chr22:23522748-23522798	K562	blood:	n/a
6	chr22:23522307-23522357	U87	brain:	n/a
7	chr22:23522374-23522424	HL-60	blood:	n/a
8	chr22:23523942-23523992	SKMC	muscle:	n/a
9	chr22:23522374-23522424	NHBE	bronchial:	n/a
10	chr22:23522511-23522561	RPTEC	kidney:	n/a
11	chr22:23522460-23522510	HPAEpiC	pulmonary alveolar:	n/a
12	chr22:23522341-23522391	BJ	skin:	n/a
13	chr22:23523942-23523992	AG04450	lung:	fetal
14	chr22:23522551-23522601	SK-N-MC	brain:	n/a
15	chr22:23522511-23522561	Hepatocyte	liver:	n/a
16	chr22:23522374-23522424	SK-N-SH_RA	brain:	n/a
17	chr22:23522551-23522601	HRE	kidney:	n/a
18	chr22:23523310-23523360	HRCEpiC	kidney:	n/a
19	chr22:23522551-23522601	ProgFib	skin:	n/a
20	chr22:23522374-23522424	MCF-7	breast:	n/a
21	chr22:23522307-23522357	HPAEpiC	pulmonary alveolar:	n/a
22	chr22:23522307-23522357	NH-A	brain:	n/a
23	chr22:23523942-23523992	GM12892	blood:	n/a
24	chr22:23522341-23522391	HRE	kidney:	n/a
25	chr22:23522511-23522561	LNCaP	prostate:	n/a
26	chr22:23522460-23522510	NHBE	bronchial:	n/a
27	chr22:23522341-23522391	AG04449	skin:	fetal
28	chr22:23523310-23523360	HRPEpiC	eye:	n/a
29	chr22:23522474-23522524	AG09309	skin:	n/a
30	chr22:23522460-23522510	HCM	heart:	n/a
31	chr22:23522551-23522601	HRPEpiC	eye:	n/a
32	chr22:23523310-23523360	HCM	heart:	n/a
33	chr22:23522374-23522424	HIPEpiC	eye:	n/a
34	chr22:23522748-23522798	Hepatocyte	liver:	n/a
35	chr22:23522307-23522357	ProgFib	skin:	n/a
36	chr22:23522748-23522798	GM06990	blood:	n/a
37	chr22:23522748-23522798	HL-60	blood:	n/a
38	chr22:23522374-23522424	GM12878	blood:	n/a
39	chr22:23522511-23522561	IMR90	lung:	fetal
40	chr22:23523942-23523992	LNCaP	prostate:	n/a
41	chr22:23522492-23522542	HEK293	kidney:	embryo
42	chr22:23522492-23522542	GM12878	blood:	n/a
43	chr22:23522492-23522542	HRPEpiC	eye:	n/a
44	chr22:23522341-23522391	MCF-7	breast:	n/a
45	chr22:23522374-23522424	Hela-S3	cervix:	n/a
46	chr22:23522307-23522357	AoSMC	blood vessel:	n/a
47	chr22:23523942-23523992	AG10803	skin:	n/a
48	chr22:23522341-23522391	RPTEC	kidney:	n/a
49	chr22:23522551-23522601	IMR90	lung:	fetal
50	chr22:23522511-23522561	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:23521768..23522736-chr22:23592643..23593640,6	K562	blood:
2	chr22:23521575..23523250-chr22:23605169..23607302,2	MCF-7	breast:
3	chr13:91999405..92003025-chr22:23522118..23524074,3	K562	blood:
4	chr13:92000505..92003025-chr22:23522118..23523811,2	K562	blood:
5	chr22:23155103..23157714-chr22:23521587..23523946,2	K562	blood:
6	chr22:23523258..23525761-chr22:23611153..23612989,2	MCF-7	breast:
7	chr1:192777739..192778276-chr22:23522638..23523330,2	HCT-116	colon:
8	chr12:120728308..120731053-chr22:23519442..23522442,4	MCF-7	breast:
9	chr22:23519615..23526434-chr22:23614924..23625964,20	MCF-7	breast:
10	chr22:23522764..23523306-chr9:133738661..133739192,2	K562	blood:
11	chr22:23379763..23382306-chr22:23523564..23525887,2	K562	blood:
12	chr22:23520289..23523680-chr22:23623216..23625593,134	K562	blood:
13	chr22:23520909..23526395-chr22:23622717..23628021,9	MCF-7	breast:
14	chr22:23523350..23525203-chr22:23562155..23564317,2	MCF-7	breast:
15	chr12:120728297..120729929-chr22:23519462..23522442,4	MCF-7	breast:
16	chr16:67312530..67313094-chr22:23523197..23523963,2	Hela-S3	cervix:
17	chr22:23522033..23525900-chr22:23589634..23593895,5	MCF-7	breast:
18	chr12:120728333..120732236-chr22:23519442..23524202,7	K562	blood:
19	chr17:56736459..56737112-chr22:23522420..23523405,2	MCF-7	breast:
20	chr22:23520356..23521778-chr9:133741049..133742733,6	K562	blood:
21	chr22:23522976..23523833-chr22:23602295..23603210,2	K562	blood:
22	chr22:23522919..23527024-chr9:133630421..133633989,3	K562	blood:
23	chr22:23522684..23525634-chr22:23628553..23630815,2	MCF-7	breast:
24	chr22:23522566..23524379-chr6:26053067..26054822,2	K562	blood:
25	chr22:23521185..23525273-chr22:23592606..23595379,3	MCF-7	breast:
26	chr22:23410861..23412817-chr22:23523391..23525696,2	K562	blood:
27	chr22:23461434..23463209-chr22:23523024..23524545,2	K562	blood:
28	chr22:23522895..23526255-chr22:23576324..23579715,3	MCF-7	breast:
29	chr22:23333630..23336043-chr22:23523399..23525506,2	K562	blood:
30	chr22:22899777..22902567-chr22:23521741..23524198,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-2	chr22:23522105-23522359	NONHSAT083858

Variant related genes	Relation type
BCRP8	TF binding region
BCR	TF binding region
BCRP8	CpG island
BCR	CpG island
ENSG00000200795	chromatin interactions
ENSG00000226477	chromatin interactions
ENSG00000230701	chromatin interactions
ENSG00000128266	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000196155	chromatin interactions
ENSG00000116741	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000215417	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 209 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555456069	chr22:23521587-23521588	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs572379700	chr22:23521637-23521638	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs541146706	chr22:23521648-23521649	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs138295342	chr22:23521679-23521680	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs533003102	chr22:23521690-23521691	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs543201640	chr22:23521697-23521698	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs6003540	chr22:23521698-23521699	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531689262	chr22:23521699-23521700	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs115681559	chr22:23521701-23521702	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs373152720	chr22:23521704-23521705	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs111681109	chr22:23521724-23521725	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs528050959	chr22:23521731-23521732	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs551504093	chr22:23521733-23521734	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs571362856	chr22:23521738-23521739	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs143370929	chr22:23521771-23521772	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs139022694	chr22:23521822-23521823	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs370565131	chr22:23521823-23521824	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs141924766	chr22:23521854-23521855	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs570356904	chr22:23521901-23521902	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs146310297	chr22:23521909-23521910	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs117877427	chr22:23521923-23521924	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs138300671	chr22:23521931-23521932	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs534691526	chr22:23521949-23521950	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs557868089	chr22:23521966-23521967	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs183826043	chr22:23521979-23521980	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs543240338	chr22:23521991-23521992	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs114200669	chr22:23522022-23522023	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs76403329	chr22:23522030-23522031	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs542566913	chr22:23522070-23522071	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs559552995	chr22:23522090-23522091	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs528139952	chr22:23522196-23522197	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
32	rs141912342	chr22:23522203-23522204	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
33	rs565008579	chr22:23522227-23522228	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
34	rs530604143	chr22:23522245-23522246	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
35	rs550613435	chr22:23522248-23522249	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs570173473	chr22:23522249-23522250	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
37	rs79625264	chr22:23522277-23522278	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
38	rs549455250	chr22:23522357-23522358	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
39	rs566032957	chr22:23522458-23522459	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs76654237	chr22:23522462-23522463	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs557716681	chr22:23522481-23522482	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs369718898	chr22:23522552-23522553	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs577583176	chr22:23522640-23522641	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs112947658	chr22:23522669-23522670	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs557380208	chr22:23522673-23522674	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs573764419	chr22:23522704-23522705	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs542797530	chr22:23522721-23522722	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs373742833	chr22:23522779-23522780	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs573152643	chr22:23522787-23522788	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs3138696	chr22:23522789-23522790	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:209)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD

Chromatin state (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23490400-23522000	Weak transcription	Aorta	Aorta
2	chr22:23516000-23522000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr22:23517800-23522000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:23517800-23522200	Enhancers	GM12878-XiMat	blood
5	chr22:23518000-23522000	Enhancers	Esophagus	oesophagus
6	chr22:23518000-23522200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:23519000-23521600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:23519200-23522200	Enhancers	Primary B cells from peripheral blood	blood
9	chr22:23519400-23522000	Weak transcription	Thymus	Thymus
10	chr22:23519400-23522200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr22:23519600-23521800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr22:23519600-23522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr22:23519600-23522000	Enhancers	Placenta	Placenta
14	chr22:23519600-23522200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:23519800-23522000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:23519800-23522000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr22:23519800-23522200	Enhancers	Primary B cells from cord blood	blood
18	chr22:23520200-23521800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:23520600-23521600	Enhancers	Brain Germinal Matrix	brain
20	chr22:23520600-23521600	Enhancers	Colon Smooth Muscle	Colon
21	chr22:23520600-23521600	Enhancers	Fetal Stomach	stomach
22	chr22:23520600-23521800	Enhancers	Brain Anterior Caudate	brain
23	chr22:23520600-23521800	Enhancers	Brain Hippocampus Middle	brain
24	chr22:23520600-23522000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:23520600-23522000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:23520600-23522000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr22:23520600-23522000	Enhancers	Brain Cingulate Gyrus	brain
28	chr22:23520600-23522000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr22:23520600-23522000	Enhancers	Pancreas	Pancrea
30	chr22:23520600-23522200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:23520600-23522200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr22:23520600-23522200	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr22:23520600-23522200	Enhancers	Fetal Thymus	thymus
34	chr22:23520600-23522400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr22:23520800-23521600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:23520800-23521600	Enhancers	HSMM	muscle
37	chr22:23520800-23521800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:23520800-23521800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:23520800-23521800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr22:23520800-23521800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:23520800-23521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:23520800-23521800	Enhancers	Adipose Nuclei	Adipose
43	chr22:23520800-23521800	Enhancers	Liver	Liver
44	chr22:23520800-23521800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr22:23520800-23521800	Enhancers	Rectal Smooth Muscle	rectum
46	chr22:23520800-23521800	Enhancers	Dnd41	blood
47	chr22:23520800-23521800	Flanking Active TSS	HepG2	liver
48	chr22:23520800-23522000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:23520800-23522000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr22:23520800-23522000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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