Variant report

Variant	esv3348685
Chromosome Location	chr22:31884652-31887150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:694)
CpG islands
(count:610)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:31885903-31886096	K562	blood:	n/a	n/a
2	ARID3A	chr22:31885756-31886129	HepG2	liver:	n/a	n/a
3	ATF1	chr22:31886331-31887022	K562	blood:	n/a	n/a
4	ATF2	chr22:31885885-31886967	GM12878	blood:	n/a	n/a
5	ATF2	chr22:31885674-31887011	GM12878	blood:	n/a	n/a
6	BACH1	chr22:31885818-31886837	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr22:31885925-31886679	K562	blood:	n/a	n/a
8	BATF	chr22:31884307-31884694	GM12878	blood:	n/a	chr22:31884501-31884511 chr22:31884504-31884515
9	BATF	chr22:31886386-31886943	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:31886348-31886970	GM12878	blood:	n/a	chr22:31886609-31886618
11	BCL3	chr22:31885736-31886877	GM12878	blood:	n/a	chr22:31886110-31886123 chr22:31885839-31885848 chr22:31885911-31885924 chr22:31886109-31886118 chr22:31886609-31886618
12	BCLAF1	chr22:31885771-31887416	GM12878	blood:	n/a	chr22:31886110-31886123 chr22:31885839-31885848 chr22:31885911-31885924 chr22:31886109-31886118 chr22:31886609-31886618
13	BCLAF1	chr22:31884849-31885471	GM12878	blood:	n/a	chr22:31885304-31885317 chr22:31885452-31885465
14	BCLAF1	chr22:31885626-31887091	GM12878	blood:	n/a	chr22:31885687-31885700 chr22:31886110-31886123 chr22:31885839-31885848 chr22:31885911-31885924 chr22:31885686-31885695 chr22:31886109-31886118 chr22:31886609-31886618
15	BHLHE40	chr22:31885431-31887083	GM12878	blood:	n/a	chr22:31885738-31885754 chr22:31885990-31886006
16	BHLHE40	chr22:31885597-31886799	K562	blood:	n/a	chr22:31885738-31885754 chr22:31885990-31886006
17	BHLHE40	chr22:31885118-31885307	K562	blood:	n/a	n/a
18	BRCA1	chr22:31886835-31887133	H1-hESC	embryonic stem cell:	n/a	chr22:31886958-31886965
19	BRCA1	chr22:31886247-31886587	Hela-S3	cervix:	n/a	n/a
20	CCNT2	chr22:31885158-31886804	K562	blood:	n/a	chr22:31885860-31885869 chr22:31886296-31886316
21	CEBPB	chr22:31886001-31886158	K562	blood:	n/a	n/a
22	CEBPB	chr22:31886472-31886790	GM12878	blood:	n/a	chr22:31886493-31886501
23	CEBPB	chr22:31885932-31887051	GM12878	blood:	n/a	chr22:31886493-31886501
24	CEBPD	chr22:31885707-31886036	HepG2	liver:	n/a	n/a
25	CEBPD	chr22:31885593-31886306	HepG2	liver:	n/a	n/a
26	CHD1	chr22:31884900-31885161	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr22:31886377-31886547	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr22:31885658-31887569	GM12878	blood:	n/a	chr22:31886026-31886036
29	CHD2	chr22:31885695-31886358	Hela-S3	cervix:	n/a	chr22:31886026-31886036
30	CHD2	chr22:31885834-31886272	HepG2	liver:	n/a	chr22:31886026-31886036
31	CHD2	chr22:31885882-31886250	K562	blood:	n/a	chr22:31886026-31886036
32	CHD2	chr22:31885341-31885444	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr22:31885669-31887027	GM12878	blood:	n/a	chr22:31886026-31886036
34	CREB1	chr22:31885517-31886848	HepG2	liver:	n/a	n/a
35	CREB1	chr22:31885750-31886023	A549	lung:	n/a	n/a
36	CREB1	chr22:31885632-31887007	GM12878	blood:	n/a	n/a
37	CREB1	chr22:31885582-31886314	A549	lung:	n/a	n/a
38	CTBP2	chr22:31885815-31886739	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr22:31886500-31886650	BJ	skin:	n/a	n/a
40	CTCF	chr22:31885100-31885250	BJ	skin:	n/a	n/a
41	CTCF	chr22:31885000-31885150	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr22:31885111-31885156	LNCaP	prostate:	n/a	n/a
43	CTCF	chr22:31885000-31885150	HRE	kidney:	n/a	n/a
44	CTCF	chr22:31885111-31885183	Medullo	brain:	n/a	n/a
45	CTCF	chr22:31886560-31886710	K562	blood:	n/a	n/a
46	CTCF	chr22:31885060-31885210	GM12875	blood:	n/a	n/a
47	CTCF	chr22:31886440-31886590	HRE	kidney:	n/a	n/a
48	CTCF	chr22:31885120-31885270	GM12865	blood:	n/a	n/a
49	CTCF	chr22:31886636-31886717	GM10248	blood:	n/a	n/a
50	CTCF	chr22:31885107-31885171	H1-hESC	embryonic stem cell:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31886454-31886504	ECC-1	luminal epithelium:	n/a
2	chr22:31886228-31886278	AG04449	skin:	fetal
3	chr22:31886454-31886504	T-47D	breast:	n/a
4	chr22:31886454-31886504	GM12891	blood:	n/a
5	chr22:31885573-31885623	NH-A	brain:	n/a
6	chr22:31885573-31885623	HEEpiC	esophagus:	n/a
7	chr22:31886228-31886278	H1-hESC	embryonic stem cell:	embryo
8	chr22:31885141-31885191	PrEC	prostate:	n/a
9	chr22:31885763-31885813	NHDF-neo	bronchial:	n/a
10	chr22:31885780-31885830	HCPEpiC	choroid plexus:	n/a
11	chr22:31886454-31886504	Hepatocyte	liver:	n/a
12	chr22:31885780-31885830	NHDF-neo	bronchial:	n/a
13	chr22:31885780-31885830	NB4	blood:	n/a
14	chr22:31885763-31885813	NB4	blood:	n/a
15	chr22:31885141-31885191	HRPEpiC	eye:	n/a
16	chr22:31886228-31886278	AG09309	skin:	n/a
17	chr22:31886456-31886506	HPAEpiC	pulmonary alveolar:	n/a
18	chr22:31885141-31885191	SK-N-SH	brain:	n/a
19	chr22:31885739-31885789	NT2-D1	testis:	n/a
20	chr22:31886228-31886278	NH-A	brain:	n/a
21	chr22:31886228-31886278	HRE	kidney:	n/a
22	chr22:31885141-31885191	K562	blood:	n/a
23	chr22:31886228-31886278	K562	blood:	n/a
24	chr22:31886454-31886504	U87	brain:	n/a
25	chr22:31886456-31886506	HL-60	blood:	n/a
26	chr22:31886456-31886506	HepG2	liver:	n/a
27	chr22:31886228-31886278	AoSMC	blood vessel:	n/a
28	chr22:31885780-31885830	Jurkat	blood:	n/a
29	chr22:31886228-31886278	HMEC	breast:	n/a
30	chr22:31885141-31885191	ECC-1	luminal epithelium:	n/a
31	chr22:31885640-31885690	SK-N-SH	brain:	n/a
32	chr22:31886454-31886504	PFSK-1	brain:	n/a
33	chr22:31885780-31885830	NT2-D1	testis:	n/a
34	chr22:31885573-31885623	SK-N-SH	brain:	n/a
35	chr22:31886228-31886278	HRPEpiC	eye:	n/a
36	chr22:31886456-31886506	NT2-D1	testis:	n/a
37	chr22:31886456-31886506	SKMC	muscle:	n/a
38	chr22:31885141-31885191	HAEpiC	amniotic membrane:	n/a
39	chr22:31886228-31886278	T-47D	breast:	n/a
40	chr22:31885640-31885690	SKMC	muscle:	n/a
41	chr22:31886454-31886504	AG04449	skin:	fetal
42	chr22:31885763-31885813	HIPEpiC	eye:	n/a
43	chr22:31885573-31885623	GM06990	blood:	n/a
44	chr22:31885141-31885191	AG10803	skin:	n/a
45	chr22:31886454-31886504	HIPEpiC	eye:	n/a
46	chr22:31886454-31886504	NB4	blood:	n/a
47	chr22:31885141-31885191	AG09319	gingival:	n/a
48	chr22:31885141-31885191	NH-A	brain:	n/a
49	chr22:31885640-31885690	AoSMC	blood vessel:	n/a
50	chr22:31885573-31885623	Hela-S3	cervix:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31839629..31841921-chr22:31886106..31888362,2	K562	blood:
2	chr18:12990875..12991863-chr22:31884946..31885786,2	Hela-S3	cervix:
3	chr22:31885954..31886634-chr7:157329747..157330647,2	NB4	blood:
4	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
5	chr22:31739363..31741917-chr22:31884740..31886779,4	MCF-7	breast:
6	chr22:31884599..31887538-chr22:32147471..32150641,3	K562	blood:
7	chr22:31741801..31743589-chr22:31885070..31888024,2	K562	blood:
8	chr22:31885118..31887084-chr22:32148124..32150324,2	MCF-7	breast:
9	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
10	22:31864703-31891033..22:32347255-32351014	K562	blood:
11	chr14:60714772..60717731-chr22:31883101..31885338,2	MCF-7	breast:
12	chr22:31883675..31887496-chr22:32025240..32029301,5	K562	blood:
13	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
14	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
15	chr22:31876074..31877834-chr22:31886126..31888096,2	K562	blood:
16	chr22:31742290..31744009-chr22:31883766..31886602,4	MCF-7	breast:
17	chr22:31793990..31795602-chr22:31885862..31887767,2	K562	blood:
18	chr22:31884421..31887375-chr22:32024434..32026202,2	MCF-7	breast:
19	chr22:31362414..31364814-chr22:31884704..31886596,2	K562	blood:
20	chr22:31884998..31887254-chr22:32026687..32028800,2	K562	blood:
21	chr22:31793990..31796986-chr22:31884678..31887767,3	K562	blood:
22	chr22:31850201..31852811-chr22:31884349..31886700,2	MCF-7	breast:
23	chr22:31739041..31741328-chr22:31886288..31888294,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SFI1-2	chr22:31884674-31884769	NONHSAT084895

No data

Variant related genes	Relation type
EIF4ENIF1	TF binding region
SFI1	TF binding region
EIF4ENIF1	CpG island
SFI1	CpG island
ENSG00000100614	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000133422	chromatin interactions
ENSG00000101639	chromatin interactions
ENSG00000128254	chromatin interactions
ENSG00000254718	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000240591	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000238910	chromatin interactions
ENSG00000213888	chromatin interactions
ENSG00000266969	chromatin interactions
ENSG00000128245	chromatin interactions
ENSG00000229169	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000185721	chromatin interactions
ENSG00000100105	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145018643	chr22:31884660-31884661	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs148554829	chr22:31884694-31884695	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
3	rs3834682	chr22:31884696-31884697	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
4	rs375797069	chr22:31884737-31884738	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
5	rs187968794	chr22:31884765-31884766	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
6	rs553377230	chr22:31884868-31884869	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs146587295	chr22:31884871-31884872	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs557698429	chr22:31884954-31884955	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs141336821	chr22:31884980-31884981	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs114092696	chr22:31884985-31884986	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs554444398	chr22:31885025-31885026	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs574294131	chr22:31885056-31885057	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs35206571	chr22:31885058-31885059	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs9621271	chr22:31885062-31885063	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148355638	chr22:31885070-31885071	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs544308913	chr22:31885071-31885072	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs564194610	chr22:31885173-31885174	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs532952012	chr22:31885183-31885184	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs547889961	chr22:31885187-31885188	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs35975055	chr22:31885189-31885190	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs376009943	chr22:31885196-31885197	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs560352962	chr22:31885245-31885246	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs5998006	chr22:31885268-31885269	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs371185061	chr22:31885290-31885291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs529178916	chr22:31885310-31885311	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs12106594	chr22:31885316-31885317	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs5998007	chr22:31885321-31885322	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs568729353	chr22:31885331-31885332	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs537686966	chr22:31885354-31885355	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs761733	chr22:31885364-31885365	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs150484322	chr22:31885368-31885369	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs534190159	chr22:31885382-31885383	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs553881531	chr22:31885389-31885390	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs574245519	chr22:31885404-31885405	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs1076779	chr22:31885420-31885421	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs373423924	chr22:31885424-31885425	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs536558367	chr22:31885513-31885514	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs556850383	chr22:31885550-31885551	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs7288778	chr22:31885569-31885570	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs34827286	chr22:31885633-31885634	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs398036886	chr22:31885635-31885636	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs545660774	chr22:31885666-31885667	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs564158404	chr22:31885709-31885710	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs577820726	chr22:31885786-31885787	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs540181069	chr22:31885791-31885792	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs559917321	chr22:31885797-31885798	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs529152450	chr22:31885868-31885869	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs548992096	chr22:31885879-31885880	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs137904546	chr22:31885902-31885903	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs531402225	chr22:31885916-31885917	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	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
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD

Chromatin state (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:31859400-31884800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:31860200-31884800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:31878000-31885000	Weak transcription	Esophagus	oesophagus
5	chr22:31881800-31885000	Weak transcription	Gastric	stomach
6	chr22:31882800-31885000	Weak transcription	Left Ventricle	heart
7	chr22:31883200-31884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr22:31883600-31884800	Weak transcription	Ovary	ovary
9	chr22:31883800-31885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:31883800-31885000	Weak transcription	Lung	lung
11	chr22:31884000-31884800	Flanking Active TSS	HMEC	breast
12	chr22:31884000-31885000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:31884200-31884800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:31884200-31884800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr22:31884200-31884800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
16	chr22:31884200-31884800	Flanking Active TSS	NHLF	lung
17	chr22:31884200-31885000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:31884200-31885000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:31884200-31885000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr22:31884200-31885200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:31884200-31885200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:31884200-31885400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:31884200-31886800	Active TSS	GM12878-XiMat	blood
24	chr22:31884400-31884800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:31884400-31884800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:31884400-31884800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:31884400-31884800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr22:31884400-31884800	Enhancers	Brain Substantia Nigra	brain
29	chr22:31884400-31884800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
30	chr22:31884400-31884800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr22:31884400-31884800	Flanking Active TSS	A549	lung
32	chr22:31884400-31884800	Flanking Active TSS	HepG2	liver
33	chr22:31884400-31884800	Flanking Active TSS	K562	blood
34	chr22:31884400-31884800	Flanking Active TSS	NHDF-Ad	bronchial
35	chr22:31884400-31885000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr22:31884400-31885000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr22:31884400-31885000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr22:31884400-31885000	Flanking Active TSS	Fetal Brain Female	brain
39	chr22:31884400-31885000	Flanking Active TSS	Fetal Kidney	kidney
40	chr22:31884400-31885000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr22:31884400-31885000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr22:31884400-31885000	Flanking Active TSS	Dnd41	blood
43	chr22:31884400-31885000	Flanking Active TSS	Hela-S3	cervix
44	chr22:31884400-31885000	Flanking Active TSS	NHEK	skin
45	chr22:31884400-31885000	Flanking Active TSS	Osteobl	bone
46	chr22:31884400-31885200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr22:31884400-31885200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr22:31884400-31885200	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr22:31884400-31885200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:31884400-31885200	Flanking Active TSS	Rectal Smooth Muscle	rectum

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