Variant report

Variant	nsv522605
Chromosome Location	chr22:30685076-30691631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:426)
CpG islands
(count:672)
Chromatin interactive
region (count:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr22:30685738-30685885	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr22:30690477-30690565	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr22:30685237-30686243	GM12878	blood:	n/a	chr22:30685602-30685615 chr22:30685546-30685555 chr22:30685541-30685554 chr22:30685543-30685552 chr22:30685260-30685273 chr22:30685580-30685593 chr22:30685254-30685267 chr22:30685598-30685611
4	BHLHE40	chr22:30685529-30685711	K562	blood:	n/a	chr22:30685621-30685637
5	BHLHE40	chr22:30685448-30685938	GM12878	blood:	n/a	chr22:30685621-30685637
6	CCNT2	chr22:30685318-30685922	K562	blood:	n/a	chr22:30685817-30685826
7	CEBPB	chr22:30686000-30686096	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPD	chr22:30685345-30685576	HepG2	liver:	n/a	n/a
9	CHD2	chr22:30685341-30686750	GM12878	blood:	n/a	chr22:30686061-30686068
10	CHD2	chr22:30686379-30686573	HepG2	liver:	n/a	n/a
11	CHD2	chr22:30686215-30686297	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr22:30685446-30685931	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr22:30685451-30685620	HepG2	liver:	n/a	n/a
14	CHD2	chr22:30685366-30685814	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr22:30685325-30685912	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr22:30685377-30685918	A549	lung:	n/a	n/a
17	CTCF	chr22:30686109-30686143	GM19239	blood:	n/a	n/a
18	CTCF	chr22:30686100-30686250	GM12866	blood:	n/a	n/a
19	CTCF	chr22:30686160-30686310	HMEC	breast:	n/a	n/a
20	CTCF	chr22:30686080-30686230	HRE	kidney:	n/a	chr22:30686088-30686101
21	CTCF	chr22:30685740-30685890	HMEC	breast:	n/a	n/a
22	CTCF	chr22:30686080-30686091	GM19239	blood:	n/a	n/a
23	CTCF	chr22:30685920-30686070	HRE	kidney:	n/a	n/a
24	CTCF	chr22:30685075-30685135	GM19240	blood:	n/a	n/a
25	CTCF	chr22:30685880-30686030	HCM	heart:	n/a	n/a
26	CTCF	chr22:30685940-30686090	GM12871	blood:	n/a	n/a
27	CTCF	chr22:30686060-30686210	BJ	skin:	n/a	chr22:30686088-30686101
28	CTCF	chr22:30685417-30685758	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr22:30686300-30686450	GM12872	blood:	n/a	n/a
30	CTCF	chr22:30687160-30687310	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr22:30685980-30686130	HCFaa	heart:	n/a	chr22:30686088-30686101
32	CTCF	chr22:30685100-30685250	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr22:30685980-30686130	AoAF	blood vessel:	n/a	chr22:30686088-30686101
34	CTCF	chr22:30686220-30686370	NHEK	skin:	n/a	n/a
35	CTCF	chr22:30686060-30686210	SK-N-SH_RA	brain:	n/a	chr22:30686088-30686101
36	CTCF	chr22:30686960-30687110	BJ	skin:	n/a	n/a
37	CTCF	chr22:30685420-30685570	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr22:30686080-30686230	GM12867	blood:	n/a	chr22:30686088-30686101
39	CTCF	chr22:30686920-30687070	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr22:30685940-30686090	GM12874	blood:	n/a	n/a
41	CTCF	chr22:30686000-30686150	HepG2	liver:	n/a	chr22:30686088-30686101
42	CTCF	chr22:30685940-30686090	BJ	skin:	n/a	n/a
43	CTCF	chr22:30685999-30686089	GM12892	blood:	n/a	n/a
44	CTCF	chr22:30686092-30686105	GM19239	blood:	n/a	n/a
45	CTCF	chr22:30685568-30685667	Lung_OC	lung:	n/a	n/a
46	CTCF	chr22:30686260-30686410	GM06990	blood:	n/a	n/a
47	CTCF	chr22:30686180-30686330	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr22:30686140-30686290	SAEC	small airway:	n/a	n/a
49	CTCF	chr22:30687060-30687210	HCPEpiC	choroid plexus:	n/a	chr22:30687108-30687121
50	CTCF	chr22:30686049-30686172	Spleen_OC	spleen:	n/a	chr22:30686088-30686101

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30685584-30685634	CMK	blood:	n/a
2	chr22:30685584-30685634	CMK	blood:	n/a
3	chr22:30685903-30685953	AG04450	lung:	fetal
4	chr22:30685664-30685714	U87	brain:	n/a
5	chr22:30685706-30685756	ProgFib	skin:	n/a
6	chr22:30688338-30688388	SAEC	small airway:	n/a
7	chr22:30685664-30685714	PrEC	prostate:	n/a
8	chr22:30685664-30685714	HPAEpiC	pulmonary alveolar:	n/a
9	chr22:30685926-30685976	SK-N-MC	brain:	n/a
10	chr22:30686808-30686858	SK-N-MC	brain:	n/a
11	chr22:30685584-30685634	HUVEC	blood vessel:	n/a
12	chr22:30686808-30686858	HAEpiC	amniotic membrane:	n/a
13	chr22:30685903-30685953	GM19239	blood:	n/a
14	chr22:30686808-30686858	NB4	blood:	n/a
15	chr22:30685903-30685953	HepG2	liver:	n/a
16	chr22:30685706-30685756	HCF	heart:	n/a
17	chr22:30685666-30685716	T-47D	breast:	n/a
18	chr22:30685271-30685321	HAEpiC	amniotic membrane:	n/a
19	chr22:30685903-30685953	LNCaP	prostate:	n/a
20	chr22:30685664-30685714	CMK	blood:	n/a
21	chr22:30685664-30685714	MCF10A-Er-Src	breast:	n/a
22	chr22:30685584-30685634	Caco-2	colon:	n/a
23	chr22:30685903-30685953	HEK293	kidney:	embryo
24	chr22:30685926-30685976	U87	brain:	n/a
25	chr22:30685756-30685806	HIPEpiC	eye:	n/a
26	chr22:30685271-30685321	ovcar-3	ovarian:	n/a
27	chr22:30686808-30686858	AG10803	skin:	n/a
28	chr22:30685271-30685321	HCM	heart:	n/a
29	chr22:30686808-30686858	HRCEpiC	kidney:	n/a
30	chr22:30685747-30685797	HIPEpiC	eye:	n/a
31	chr22:30685903-30685953	BE2_C	brain:	n/a
32	chr22:30688338-30688388	AG09309	skin:	n/a
33	chr22:30686808-30686858	HEK293	kidney:	embryo
34	chr22:30688338-30688388	GM12891	blood:	n/a
35	chr22:30688338-30688388	Hepatocyte	liver:	n/a
36	chr22:30685926-30685976	A549	lung:	n/a
37	chr22:30685903-30685953	SK-N-SH	brain:	n/a
38	chr22:30685584-30685634	ECC-1	luminal epithelium:	n/a
39	chr22:30685584-30685634	HAEpiC	amniotic membrane:	n/a
40	chr22:30685706-30685756	NHDF-neo	bronchial:	n/a
41	chr22:30685584-30685634	GM19239	blood:	n/a
42	chr22:30685664-30685714	AG10803	skin:	n/a
43	chr22:30685747-30685797	GM12892	blood:	n/a
44	chr22:30685664-30685714	NHDF-neo	bronchial:	n/a
45	chr22:30688338-30688388	NT2-D1	testis:	n/a
46	chr22:30686808-30686858	HCT-116	colon:	n/a
47	chr22:30685706-30685756	SK-N-SH_RA	brain:	n/a
48	chr22:30685706-30685756	AG09319	gingival:	n/a
49	chr22:30686808-30686858	SAEC	small airway:	n/a
50	chr22:30685706-30685756	HIPEpiC	eye:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30684393..30686613-chr22:30820961..30823363,3	MCF-7	breast:
2	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:
3	chr22:30684150..30686115-chr22:30783000..30785215,3	K562	blood:
4	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
5	chr22:30660837..30662614-chr22:30683520..30685637,2	MCF-7	breast:
6	chr22:30683032..30685513-chr3:161089094..161092006,2	MCF-7	breast:
7	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
8	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
9	chr22:30684284..30686749-chr22:30752450..30754272,3	MCF-7	breast:
10	chr22:30685629..30687266-chr22:30839148..30841021,2	K562	blood:
11	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
12	chr22:30689967..30692152-chr22:30752675..30754508,2	MCF-7	breast:
13	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
14	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
15	chr22:30685533..30687274-chr22:30688307..30690442,2	K562	blood:
16	chr22:30683831..30686273-chr22:30722432..30724567,2	K562	blood:
17	chr22:30686791..30687342-chr22:30932110..30932929,2	MCF-7	breast:
18	chr22:30686895..30687732-chr22:30707081..30707981,2	MCF-7	breast:
19	chr22:30686966..30689446-chr22:30691797..30694765,3	K562	blood:
20	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
21	chr22:30683198..30685731-chr22:30819153..30821641,4	K562	blood:
22	chr22:30683198..30686724-chr22:30818649..30821641,4	K562	blood:
23	chr22:30684944..30687538-chr22:30739118..30741799,2	MCF-7	breast:
24	chr22:30640449..30642621-chr22:30686801..30689268,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC157-3	chr22:30689344-30689401	NONHSAT084766

No data

Variant related genes	Relation type
TBC1D10A	TF binding region
GATSL3	TF binding region
TBC1D10A	CpG island
GATSL3	CpG island
ENSG00000268812	chromatin interactions
ENSG00000099999	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000239282	chromatin interactions
ENSG00000099985	chromatin interactions
ENSG00000242114	chromatin interactions
ENSG00000099992	chromatin interactions
ENSG00000248751	chromatin interactions
ENSG00000187860	chromatin interactions
ENSG00000099995	chromatin interactions

Extended variants
information (count: 280 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5997602	chr22:30685076-30685077	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375683693	chr22:30685179-30685180	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs530300675	chr22:30685214-30685215	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs548424852	chr22:30685227-30685228	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs570156554	chr22:30685275-30685276	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs537505499	chr22:30685291-30685292	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs376905999	chr22:30685337-30685338	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs5763932	chr22:30685364-30685365	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs200243403	chr22:30685384-30685385	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs201787196	chr22:30685427-30685428	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs534962541	chr22:30685433-30685434	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs377466763	chr22:30685488-30685489	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs1860216	chr22:30685495-30685496	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs535616228	chr22:30685499-30685500	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs556849527	chr22:30685551-30685552	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs1860217	chr22:30685560-30685561	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545446418	chr22:30685660-30685661	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs200067255	chr22:30685688-30685689	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs200819094	chr22:30685791-30685792	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs185889150	chr22:30685852-30685853	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs572496872	chr22:30685869-30685870	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs541361531	chr22:30685881-30685882	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs146710171	chr22:30686050-30686051	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs530303191	chr22:30686062-30686063	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs114641895	chr22:30686141-30686142	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs563688045	chr22:30686153-30686154	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs531027928	chr22:30686173-30686174	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs140337287	chr22:30686202-30686203	Flanking Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs4823085	chr22:30686226-30686227	Flanking Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs7284531	chr22:30686254-30686255	Flanking Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs144116590	chr22:30686330-30686331	Flanking Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs574672177	chr22:30686344-30686345	Flanking Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs568365696	chr22:30686356-30686357	Flanking Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs535354012	chr22:30686386-30686387	Flanking Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs191180574	chr22:30686388-30686389	Flanking Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs568708792	chr22:30686403-30686404	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs527724163	chr22:30686503-30686504	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs377658755	chr22:30686508-30686509	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs183430034	chr22:30686569-30686570	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs557416867	chr22:30686570-30686571	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs185894578	chr22:30686609-30686610	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs9620966	chr22:30686667-30686668	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191142336	chr22:30686678-30686679	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs555032582	chr22:30686775-30686776	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs151005083	chr22:30686809-30686810	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs560892042	chr22:30686876-30686877	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs372136725	chr22:30686886-30686887	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs140895177	chr22:30686985-30686986	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs563951491	chr22:30686992-30686993	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs117489753	chr22:30687037-30687038	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 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
Myelodysplastic syndrome	21251322	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
low-grade B-cell lymphoma tumor	18367492	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

Chromatin state (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30683600-30686800	Flanking Active TSS	Dnd41	blood
2	chr22:30683800-30685200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr22:30683800-30685200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr22:30683800-30685400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr22:30683800-30686000	Active TSS	Fetal Kidney	kidney
6	chr22:30684000-30685200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr22:30684000-30685200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr22:30684000-30685200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr22:30684000-30685200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:30684000-30685200	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr22:30684000-30685200	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr22:30684000-30685200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr22:30684000-30685200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr22:30684000-30685400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr22:30684000-30685400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr22:30684000-30686000	Active TSS	Brain Anterior Caudate	brain
17	chr22:30684000-30686400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:30684000-30686600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr22:30684200-30685200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr22:30684200-30685200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr22:30684200-30685200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr22:30684200-30685200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr22:30684200-30685200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:30684200-30685200	Flanking Active TSS	Liver	Liver
25	chr22:30684200-30685200	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr22:30684200-30685200	Flanking Active TSS	Fetal Stomach	stomach
27	chr22:30684200-30685200	Flanking Active TSS	NH-A	brain
28	chr22:30684200-30685400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:30684200-30685400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:30684200-30685800	Active TSS	HSMMtube	muscle
31	chr22:30684200-30686000	Active TSS	Right Atrium	heart
32	chr22:30684200-30686200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr22:30684200-30686200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr22:30684200-30686200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr22:30684200-30686200	Active TSS	Brain Angular Gyrus	brain
36	chr22:30684200-30686200	Enhancers	Fetal Brain Male	brain
37	chr22:30684200-30686200	Active TSS	Ovary	ovary
38	chr22:30684400-30685200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:30684400-30685200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:30684400-30685200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr22:30684400-30685200	Flanking Active TSS	Fetal Brain Female	brain
42	chr22:30684400-30685200	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr22:30684400-30685200	Flanking Active TSS	Placenta	Placenta
44	chr22:30684400-30685200	Flanking Active TSS	Fetal Thymus	thymus
45	chr22:30684400-30685200	Flanking Active TSS	Thymus	Thymus
46	chr22:30684400-30685200	Flanking Active TSS	HUVEC	blood vessel
47	chr22:30684400-30685400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr22:30684400-30685400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr22:30684400-30685400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr22:30684400-30685400	Flanking Active TSS	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links