Variant report

Variant	esv3321690
Chromosome Location	chr11:65835376-65839974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:888)
CpG islands
(count:549)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:65837178-65837719	GM12878	blood:	n/a	n/a
2	ATF2	chr11:65836331-65836856	GM12878	blood:	n/a	n/a
3	ATF2	chr11:65836307-65836870	GM12878	blood:	n/a	n/a
4	ATF3	chr11:65835648-65836190	A549	lung:	n/a	n/a
5	BACH1	chr11:65835797-65835992	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:65836882-65837136	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr11:65837420-65837880	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr11:65836494-65837558	A549	lung:	n/a	chr11:65837302-65837315
9	BCL3	chr11:65837164-65837986	GM12878	blood:	n/a	chr11:65837302-65837315
10	BCL3	chr11:65836667-65837492	A549	lung:	n/a	chr11:65837302-65837315
11	BCLAF1	chr11:65836969-65837873	GM12878	blood:	n/a	chr11:65837302-65837315
12	BHLHE40	chr11:65835763-65835922	K562	blood:	n/a	n/a
13	BHLHE40	chr11:65837661-65837884	K562	blood:	n/a	n/a
14	BHLHE40	chr11:65837450-65837880	GM12878	blood:	n/a	n/a
15	BHLHE40	chr11:65835857-65835918	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:65836449-65837033	GM12878	blood:	n/a	n/a
17	BRCA1	chr11:65836005-65836014	HepG2	liver:	n/a	n/a
18	CBX3	chr11:65835672-65836086	K562	blood:	n/a	n/a
19	CCNT2	chr11:65837208-65838564	K562	blood:	n/a	n/a
20	CEBPB	chr11:65837233-65837326	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr11:65835750-65835978	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr11:65838491-65838876	K562	blood:	n/a	chr11:65838693-65838704
23	CEBPB	chr11:65838610-65838896	A549	lung:	n/a	chr11:65838693-65838704
24	CEBPB	chr11:65838572-65838872	K562	blood:	n/a	chr11:65838693-65838704
25	CEBPB	chr11:65838574-65838803	HepG2	liver:	n/a	chr11:65838693-65838704
26	CEBPB	chr11:65838503-65838945	Hela-S3	cervix:	n/a	chr11:65838693-65838704
27	CEBPD	chr11:65837257-65837603	HepG2	liver:	n/a	n/a
28	CEBPD	chr11:65837639-65837944	HepG2	liver:	n/a	n/a
29	CHD1	chr11:65839168-65839217	GM12878	blood:	n/a	n/a
30	CHD1	chr11:65837824-65838085	GM12878	blood:	n/a	n/a
31	CHD1	chr11:65838563-65838629	GM12878	blood:	n/a	n/a
32	CHD1	chr11:65836785-65836985	GM12878	blood:	n/a	n/a
33	CHD1	chr11:65838849-65838949	GM12878	blood:	n/a	n/a
34	CHD2	chr11:65837356-65837913	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr11:65837637-65837928	K562	blood:	n/a	n/a
36	CHD2	chr11:65837646-65837768	HepG2	liver:	n/a	n/a
37	CHD2	chr11:65837508-65837978	GM12878	blood:	n/a	n/a
38	CHD2	chr11:65838801-65839051	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr11:65835813-65835931	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr11:65836506-65837093	GM12878	blood:	n/a	n/a
41	CHD2	chr11:65838208-65838226	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr11:65835846-65835875	Hela-S3	cervix:	n/a	n/a
43	CREB1	chr11:65836896-65838012	GM12878	blood:	n/a	n/a
44	CREB1	chr11:65837194-65838013	A549	lung:	n/a	n/a
45	CREB1	chr11:65836920-65838464	HepG2	liver:	n/a	n/a
46	CREB1	chr11:65838043-65838411	A549	lung:	n/a	n/a
47	CTCF	chr11:65835592-65836076	A549	lung:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
48	CTCF	chr11:65836602-65836610	GM19239	blood:	n/a	n/a
49	CTCF	chr11:65835710-65836022	SK-N-SH_RA	brain:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
50	CTCF	chr11:65835780-65835930	WI-38	lung:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65838645-65838695	PFSK-1	brain:	n/a
2	chr11:65837595-65837645	HAEpiC	amniotic membrane:	n/a
3	chr11:65836288-65836338	NHDF-neo	bronchial:	n/a
4	chr11:65837996-65838046	Jurkat	blood:	n/a
5	chr11:65837255-65837305	MCF-7	breast:	n/a
6	chr11:65838645-65838695	HEEpiC	esophagus:	n/a
7	chr11:65837595-65837645	NHDF-neo	bronchial:	n/a
8	chr11:65837996-65838046	HCPEpiC	choroid plexus:	n/a
9	chr11:65837996-65838046	ECC-1	luminal epithelium:	n/a
10	chr11:65837255-65837305	A549	lung:	n/a
11	chr11:65836743-65836793	K562	blood:	n/a
12	chr11:65837255-65837305	T-47D	breast:	n/a
13	chr11:65837595-65837645	A549	lung:	n/a
14	chr11:65837996-65838046	BJ	skin:	n/a
15	chr11:65839402-65839452	SAEC	small airway:	n/a
16	chr11:65837595-65837645	HMEC	breast:	n/a
17	chr11:65837595-65837645	AG10803	skin:	n/a
18	chr11:65837255-65837305	SAEC	small airway:	n/a
19	chr11:65837194-65837244	AG09319	gingival:	n/a
20	chr11:65838645-65838695	AG04449	skin:	fetal
21	chr11:65836288-65836338	AG10803	skin:	n/a
22	chr11:65836288-65836338	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:65839402-65839452	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:65837255-65837305	HMEC	breast:	n/a
25	chr11:65839402-65839452	A549	lung:	n/a
26	chr11:65836743-65836793	IMR90	lung:	fetal
27	chr11:65837194-65837244	ovcar-3	ovarian:	n/a
28	chr11:65837996-65838046	AG04449	skin:	fetal
29	chr11:65837595-65837645	H1-hESC	embryonic stem cell:	embryo
30	chr11:65836743-65836793	BJ	skin:	n/a
31	chr11:65837996-65838046	Hepatocyte	liver:	n/a
32	chr11:65837255-65837305	GM12892	blood:	n/a
33	chr11:65836743-65836793	BE2_C	brain:	n/a
34	chr11:65837996-65838046	MCF-7	breast:	n/a
35	chr11:65839402-65839452	HEEpiC	esophagus:	n/a
36	chr11:65836743-65836793	ovcar-3	ovarian:	n/a
37	chr11:65839402-65839452	HMEC	breast:	n/a
38	chr11:65839402-65839452	BJ	skin:	n/a
39	chr11:65838237-65838287	ProgFib	skin:	n/a
40	chr11:65837595-65837645	HRE	kidney:	n/a
41	chr11:65836288-65836338	PrEC	prostate:	n/a
42	chr11:65836288-65836338	Caco-2	colon:	n/a
43	chr11:65839402-65839452	HCPEpiC	choroid plexus:	n/a
44	chr11:65837194-65837244	GM12892	blood:	n/a
45	chr11:65836288-65836338	IMR90	lung:	fetal
46	chr11:65838645-65838695	RPTEC	kidney:	n/a
47	chr11:65837194-65837244	LNCaP	prostate:	n/a
48	chr11:65837255-65837305	BE2_C	brain:	n/a
49	chr11:65838645-65838695	HCF	heart:	n/a
50	chr11:65838237-65838287	BJ	skin:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65756158..65757092-chr11:65835112..65836021,4	MCF-7	breast:
2	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
3	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
4	chr11:65835450..65836031-chr11:65902174..65902687,2	K562	blood:
5	chr11:65836782..65838328-chr20:49347114..49348947,2	MCF-7	breast:
6	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:
7	chr11:65837799..65839374-chr11:65839439..65841570,2	MCF-7	breast:
8	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
9	chr11:65665582..65668888-chr11:65835107..65838015,3	K562	blood:
10	chr11:65837353..65839732-chr11:66024702..66027312,4	MCF-7	breast:
11	chr11:65638895..65641565-chr11:65834356..65837225,2	K562	blood:
12	chr11:65833653..65835792-chr11:65836386..65838541,2	MCF-7	breast:
13	chr11:65788387..65789947-chr11:65837601..65839297,2	K562	blood:
14	chr11:65837641..65839546-chr11:66050688..66053288,2	K562	blood:
15	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
16	chr11:65779081..65782393-chr11:65836476..65839425,3	MCF-7	breast:
17	chr11:65835858..65838956-chr11:66027814..66030508,4	MCF-7	breast:
18	chr11:65788482..65791914-chr11:65833749..65837289,3	MCF-7	breast:
19	chr11:65835414..65836385-chr11:65901737..65902639,2	MCF-7	breast:
20	chr11:65839190..65841660-chr11:65977914..65980146,2	K562	blood:
21	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
22	chr11:65625072..65626937-chr11:65835477..65837832,2	K562	blood:
23	chr11:65837683..65838307-chr6:26196783..26197662,2	Hela-S3	cervix:
24	chr11:65623430..65625691-chr11:65837839..65839866,2	K562	blood:
25	chr11:65812922..65815510-chr11:65837744..65839701,2	K562	blood:
26	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
27	chr11:65654814..65656550-chr11:65837621..65839885,2	MCF-7	breast:
28	chr11:65812201..65814006-chr11:65833921..65836110,2	K562	blood:
29	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
30	chr11:65826023..65826968-chr11:65835410..65836300,2	K562	blood:
31	chr11:65836630..65840121-chr11:66032259..66035828,5	MCF-7	breast:
32	chr11:65773321..65775670-chr11:65834388..65836189,2	K562	blood:
33	chr11:65656719..65659047-chr11:65835301..65837715,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255038	TF binding region
PACS1	TF binding region
ENSG00000255038	CpG island
PACS1	CpG island
ENSG00000174851	chromatin interactions
ENSG00000087365	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000254762	chromatin interactions
ENSG00000172638	chromatin interactions
ENSG00000175294	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000175315	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000174996	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000238752	chromatin interactions
ENSG00000175592	chromatin interactions
ENSG00000254855	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000175334	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000175229	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000175376	chromatin interactions
ENSG00000255038	chromatin interactions
ENSG00000254461	chromatin interactions
ENSG00000175550	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367804158	chr11:65835380-65835381	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs571412771	chr11:65835409-65835410	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs370769595	chr11:65835413-65835414	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs112932642	chr11:65835415-65835416	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs576530430	chr11:65835425-65835426	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs143453448	chr11:65835455-65835456	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs199782165	chr11:65835489-65835490	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs372951764	chr11:65835515-65835516	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs201160612	chr11:65835516-65835517	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs370238972	chr11:65835535-65835536	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs547293437	chr11:65835567-65835568	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs189196161	chr11:65835573-65835574	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs201635103	chr11:65835575-65835576	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs371013246	chr11:65835587-65835588	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs542211976	chr11:65835589-65835590	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs569502485	chr11:65835596-65835597	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs374748125	chr11:65835610-65835611	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs146187153	chr11:65835636-65835637	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs556097612	chr11:65835639-65835640	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs368254869	chr11:65835642-65835643	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs367937981	chr11:65835668-65835669	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs371699615	chr11:65835669-65835670	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs112398687	chr11:65835675-65835676	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs200682390	chr11:65835678-65835679	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs144057362	chr11:65835732-65835733	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs144944219	chr11:65835747-65835748	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs11554198	chr11:65835759-65835760	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs527569884	chr11:65835806-65835807	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs558107979	chr11:65835810-65835811	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs373931722	chr11:65835811-65835812	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs377581194	chr11:65835824-65835825	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs200135986	chr11:65835849-65835850	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs199773480	chr11:65835852-65835853	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs540781454	chr11:65835866-65835867	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs181828109	chr11:65835921-65835922	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs186476634	chr11:65835926-65835927	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs2270448	chr11:65835931-65835932	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs373917285	chr11:65835945-65835946	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs552750540	chr11:65835956-65835957	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs531755686	chr11:65835978-65835979	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs551850567	chr11:65835984-65835985	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs142808910	chr11:65836003-65836004	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs371789588	chr11:65836048-65836049	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs376457231	chr11:65836096-65836097	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs370091941	chr11:65836098-65836099	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs567244812	chr11:65836101-65836102	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs376698512	chr11:65836127-65836128	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs148991018	chr11:65836179-65836180	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs267603123	chr11:65836180-65836181	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs1049973	chr11:65836192-65836193	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65821000-65835600	Weak transcription	Right Atrium	heart
2	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:65821200-65835400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:65821200-65835600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:65821200-65836000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:65821200-65836000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:65821200-65836000	Strong transcription	Fetal Intestine Large	intestine
9	chr11:65821200-65836000	Strong transcription	NHLF	lung
10	chr11:65821200-65836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
12	chr11:65821400-65835400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:65821400-65835600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:65821400-65835600	Strong transcription	Brain Germinal Matrix	brain
15	chr11:65821400-65835800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:65821400-65836600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:65821600-65835400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:65821600-65835400	Strong transcription	Fetal Thymus	thymus
19	chr11:65821600-65836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:65821800-65835400	Strong transcription	Spleen	Spleen
21	chr11:65821800-65835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:65821800-65835800	Strong transcription	K562	blood
23	chr11:65821800-65836000	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr11:65821800-65836000	Strong transcription	Primary T cells from cord blood	blood
25	chr11:65821800-65836600	Strong transcription	Thymus	Thymus
26	chr11:65822000-65835400	Strong transcription	Primary B cells from cord blood	blood
27	chr11:65822000-65835400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:65822000-65835400	Strong transcription	Brain Substantia Nigra	brain
29	chr11:65822000-65835400	Strong transcription	Fetal Brain Female	brain
30	chr11:65822000-65835600	Strong transcription	Brain Anterior Caudate	brain
31	chr11:65822000-65835600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:65822000-65835600	Strong transcription	Colonic Mucosa	Colon
33	chr11:65822000-65835600	Strong transcription	Gastric	stomach
34	chr11:65822000-65835600	Strong transcription	Rectal Smooth Muscle	rectum
35	chr11:65822000-65835600	Strong transcription	NHDF-Ad	bronchial
36	chr11:65822000-65835800	Strong transcription	Fetal Lung	lung
37	chr11:65822000-65835800	Strong transcription	Ovary	ovary
38	chr11:65822000-65835800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr11:65822000-65836000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:65822000-65836000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:65822000-65836000	Strong transcription	HUVEC	blood vessel
42	chr11:65822000-65836000	Strong transcription	NH-A	brain
43	chr11:65822000-65836200	Strong transcription	Hela-S3	cervix
44	chr11:65822000-65836400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:65822000-65836400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:65822000-65836400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:65822200-65835400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:65822200-65835600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:65822200-65835600	Strong transcription	HSMM	muscle
50	chr11:65822200-65835800	Strong transcription	Placenta Amnion	Placenta Amnion

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