Variant report

Variant	esv1815586
Chromosome Location	chr11:637416-644325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:455)
CpG islands
(count:1041)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:638266-638920	H1-hESC	embryonic stem cell:	n/a	chr11:638403-638417
2	BACH1	chr11:638086-639426	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr11:637350-637573	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:639689-639924	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr11:642600-642847	GM12878	blood:	n/a	n/a
6	BCL3	chr11:642473-643124	A549	lung:	n/a	n/a
7	BCL3	chr11:642404-643004	A549	lung:	n/a	n/a
8	BCL3	chr11:642418-643027	K562	blood:	n/a	n/a
9	BHLHE40	chr11:642631-642750	K562	blood:	n/a	n/a
10	CBX3	chr11:642580-642880	K562	blood:	n/a	n/a
11	CBX3	chr11:642527-643001	K562	blood:	n/a	n/a
12	CCNT2	chr11:644041-644152	K562	blood:	n/a	n/a
13	CCNT2	chr11:639712-639889	K562	blood:	n/a	n/a
14	CEBPB	chr11:642846-643099	HepG2	liver:	n/a	n/a
15	CEBPB	chr11:642825-643159	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr11:638653-638851	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr11:642717-643077	A549	lung:	n/a	n/a
18	CHD1	chr11:638552-639138	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr11:638716-638907	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr11:642611-642934	K562	blood:	n/a	n/a
21	CHD2	chr11:642624-642646	HepG2	liver:	n/a	n/a
22	CHD2	chr11:642602-642944	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr11:638199-638517	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr11:640279-640702	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr11:639090-640007	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr11:638115-638717	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr11:640379-640761	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTBP2	chr11:637804-639113	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr11:642736-642786	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:642691-642866	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:639600-639750	AG04449	skin:	n/a	n/a
32	CTCF	chr11:637900-638050	AG09309	skin:	n/a	chr11:638031-638038
33	CTCF	chr11:642815-642816	ProgFib	skin:	n/a	n/a
34	CTCF	chr11:642697-642857	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:639768-639775	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:642721-642815	Lung_OC	lung:	n/a	n/a
37	CTCF	chr11:642701-642856	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr11:642713-642846	GM10266	blood:	n/a	n/a
39	CTCF	chr11:642613-642884	H1-hESC	embryonic stem cell:	n/a	chr11:642648-642669 chr11:642655-642668 chr11:642653-642671
40	CTCF	chr11:642704-642838	GM12892	blood:	n/a	n/a
41	CTCF	chr11:642750-642794	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr11:640380-640530	GM12865	blood:	n/a	n/a
43	CTCF	chr11:642605-642608	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:637800-637950	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr11:642720-642870	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr11:637900-638050	BJ	skin:	n/a	chr11:638031-638038
47	CTCF	chr11:637640-637790	BJ	skin:	n/a	n/a
48	CTCF	chr11:642741-642846	GM19239	blood:	n/a	n/a
49	CTCF	chr11:637880-638030	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr11:639640-639790	HCPEpiC	choroid plexus:	n/a	n/a

(count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:637885-637935	AG04449	skin:	fetal
2	chr11:639423-639473	K562	blood:	n/a
3	chr11:638507-638557	HRPEpiC	eye:	n/a
4	chr11:640606-640656	HAEpiC	amniotic membrane:	n/a
5	chr11:637885-637935	AG04449	skin:	fetal
6	chr11:639423-639473	K562	blood:	n/a
7	chr11:638507-638557	HRPEpiC	eye:	n/a
8	chr11:640606-640656	HAEpiC	amniotic membrane:	n/a
9	chr11:637885-637935	HL-60	blood:	n/a
10	chr11:638076-638126	NH-A	brain:	n/a
11	chr11:640328-640378	GM12891	blood:	n/a
12	chr11:638404-638454	NHDF-neo	bronchial:	n/a
13	chr11:638076-638126	CMK	blood:	n/a
14	chr11:642975-643025	LNCaP	prostate:	n/a
15	chr11:640094-640144	GM12891	blood:	n/a
16	chr11:638507-638557	HL-60	blood:	n/a
17	chr11:639423-639473	U87	brain:	n/a
18	chr11:638939-638989	SK-N-SH	brain:	n/a
19	chr11:644011-644061	HepG2	liver:	n/a
20	chr11:640606-640656	AG10803	skin:	n/a
21	chr11:644218-644268	AG09309	skin:	n/a
22	chr11:640606-640656	Hela-S3	cervix:	n/a
23	chr11:644218-644268	ECC-1	luminal epithelium:	n/a
24	chr11:638507-638557	GM06990	blood:	n/a
25	chr11:642975-643025	ProgFib	skin:	n/a
26	chr11:638507-638557	GM12878	blood:	n/a
27	chr11:644011-644061	NHBE	bronchial:	n/a
28	chr11:640328-640378	BE2_C	brain:	n/a
29	chr11:642975-643025	PrEC	prostate:	n/a
30	chr11:638424-638474	BE2_C	brain:	n/a
31	chr11:644116-644166	AoSMC	blood vessel:	n/a
32	chr11:639423-639473	AG09319	gingival:	n/a
33	chr11:642975-643025	NH-A	brain:	n/a
34	chr11:644218-644268	RPTEC	kidney:	n/a
35	chr11:638507-638557	Jurkat	blood:	n/a
36	chr11:638507-638557	GM12892	blood:	n/a
37	chr11:638424-638474	H1-hESC	embryonic stem cell:	embryo
38	chr11:644116-644166	HL-60	blood:	n/a
39	chr11:644116-644166	CMK	blood:	n/a
40	chr11:644011-644061	Jurkat	blood:	n/a
41	chr11:640094-640144	HRPEpiC	eye:	n/a
42	chr11:639423-639473	MCF10A-Er-Src	breast:	n/a
43	chr11:638507-638557	NH-A	brain:	n/a
44	chr11:637885-637935	HCF	heart:	n/a
45	chr11:644218-644268	PrEC	prostate:	n/a
46	chr11:637491-637541	NHBE	bronchial:	n/a
47	chr11:638404-638454	PrEC	prostate:	n/a
48	chr11:640606-640656	SAEC	small airway:	n/a
49	chr11:640606-640656	CMK	blood:	n/a
50	chr11:641042-641092	BE2_C	brain:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:625493..628904-chr11:640807..646859,6	K562	blood:
2	chr11:623771..628532-chr11:641691..646859,7	K562	blood:
3	chr11:643825..646244-chr11:647527..650407,2	MCF-7	breast:
4	chr11:639925..642105-chr11:775279..778209,2	K562	blood:
5	chr11:640049..642393-chr11:729967..731516,2	K562	blood:
6	chr11:615574..618287-chr11:641260..643451,2	K562	blood:
7	chr11:641094..644290-chr11:652650..656862,4	K562	blood:
8	chr11:637117..640739-chr11:640881..644498,5	K562	blood:
9	chr11:624987..626916-chr11:638587..641005,2	K562	blood:
10	chr11:618663..620555-chr11:639273..640941,2	K562	blood:
11	chr11:634782..636324-chr11:642861..645121,2	K562	blood:
12	chr11:639369..642249-chr11:727269..729198,2	K562	blood:
13	chr11:636355..638347-chr11:640193..644110,3	MCF-7	breast:
14	chr11:604345..606469-chr11:642727..644588,2	MCF-7	breast:
15	chr11:615214..617206-chr11:643243..645241,2	K562	blood:
16	chr11:636627..638818-chr11:639825..642738,4	K562	blood:
17	chr11:618663..620642-chr11:639273..641221,3	K562	blood:
18	chr11:644190..645924-chr11:649777..651965,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEAF1-1	chr11:643211-643504	expReg_chr11_138_-

No data

Variant related genes	Relation type
DRD4	TF binding region
DRD4	CpG island
ENSG00000099834	chromatin interactions
ENSG00000070031	chromatin interactions
ENSG00000069696	chromatin interactions
ENSG00000177225	chromatin interactions
ENSG00000255284	chromatin interactions
ENSG00000185507	chromatin interactions

Extended variants
information (count: 550 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76423882	chr11:637416-637417	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369168581	chr11:637422-637423	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs570777638	chr11:637430-637431	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539616642	chr11:637436-637437	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374359731	chr11:637443-637444	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs556422280	chr11:637447-637448	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs192669730	chr11:637451-637452	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185063439	chr11:637453-637454	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs535238096	chr11:637466-637467	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201211288	chr11:637475-637476	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571899363	chr11:637491-637492	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs540632972	chr11:637492-637493	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs141565361	chr11:637493-637494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs146404200	chr11:637502-637503	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs560378041	chr11:637503-637504	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs577139102	chr11:637504-637505	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs199876324	chr11:637524-637525	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs139480839	chr11:637526-637527	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs144215684	chr11:637535-637536	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs146562378	chr11:637536-637537	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs554375713	chr11:637537-637538	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs370549757	chr11:637538-637539	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs139782868	chr11:637539-637540	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs149808759	chr11:637553-637554	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs145562859	chr11:637554-637555	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs562223161	chr11:637559-637560	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs530031052	chr11:637570-637571	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs148883863	chr11:637581-637582	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs527654047	chr11:637587-637588	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs374573307	chr11:637602-637603	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200255589	chr11:637606-637607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs570738960	chr11:637607-637608	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs12720387	chr11:637621-637622	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs752306	chr11:637622-637623	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs371831680	chr11:637629-637630	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs140238246	chr11:637631-637632	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs564644007	chr11:637632-637633	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569797335	chr11:637640-637641	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs535641320	chr11:637654-637655	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs555127514	chr11:637666-637667	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs12720388	chr11:637709-637710	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs115629822	chr11:637710-637711	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188980115	chr11:637723-637724	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs557356997	chr11:637746-637747	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs575665377	chr11:637757-637758	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538673916	chr11:637759-637760	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs577103121	chr11:637794-637795	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs373549310	chr11:637806-637807	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs531718842	chr11:637820-637821	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs117108371	chr11:637821-637822	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-small cell lung cancer	17483357	CNVD
Myelofibrosis	22110671	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	18923191	CNVD
Primary central nervous system lymphoma	21088137	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Costello syndrome	17164262	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Rhabdomyosarcoma	16790082	CNVD
Beckwith-Wiedemann syndrome	17158821	CNVD
Beckwith-Wiedemann syndrome	21920939	CNVD
Silver-Russell syndrome	21920939	CNVD
growth disorder	21920939	CNVD
Hepatocellular carcinoma	18929564	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17001317	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	21509527	CNVD
Autism	22495311	CNVD
small cell lung cancer	20016488	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20932292	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	20724749	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20409316	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:616800-641200	Weak transcription	K562	blood
2	chr11:617000-640400	Weak transcription	Dnd41	blood
3	chr11:617200-639800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:625200-637600	Weak transcription	Placenta	Placenta
5	chr11:625800-642600	Weak transcription	Hela-S3	cervix
6	chr11:626400-642000	Weak transcription	HepG2	liver
7	chr11:628800-642600	Weak transcription	A549	lung
8	chr11:633200-641000	Weak transcription	HSMMtube	muscle
9	chr11:636000-637600	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr11:636000-639200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:636200-639200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
12	chr11:636200-639600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr11:636200-639800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr11:636200-640000	Bivalent Enhancer	Fetal Intestine Small	intestine
15	chr11:636200-641000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr11:636400-637600	Enhancers	Esophagus	oesophagus
17	chr11:636400-637800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:636400-637800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:636400-638000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr11:636400-638000	Enhancers	Pancreas	Pancrea
21	chr11:636400-638600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:636400-639600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr11:636400-639600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr11:636600-637600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr11:636600-637800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:636600-637800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:636600-637800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:636600-638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:636600-638000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:636600-638600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:636600-639200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
32	chr11:636800-637600	Enhancers	Primary B cells from cord blood	blood
33	chr11:636800-637600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:636800-637600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr11:636800-637600	Bivalent Enhancer	Small Intestine	intestine
36	chr11:636800-637600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr11:636800-637600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr11:636800-637600	Bivalent/Poised TSS	Osteobl	bone
39	chr11:636800-637800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:636800-637800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:636800-637800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr11:636800-637800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:636800-637800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
44	chr11:636800-637800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:636800-637800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:636800-637800	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr11:636800-638000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:636800-638000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
49	chr11:636800-638000	Enhancers	Lung	lung
50	chr11:636800-638200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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