Variant report

Variant	esv3376740
Chromosome Location	chr11:67033176-67035299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67033664-67033733	K562	blood:	n/a	n/a
2	ARID3A	chr11:67035070-67035137	HepG2	liver:	n/a	n/a
3	ATF2	chr11:67034748-67036345	GM12878	blood:	n/a	n/a
4	BACH1	chr11:67033666-67033894	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCLAF1	chr11:67034970-67036567	GM12878	blood:	n/a	n/a
6	BCLAF1	chr11:67033584-67033866	GM12878	blood:	n/a	n/a
7	BCLAF1	chr11:67033550-67033905	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:67033517-67033863	K562	blood:	n/a	n/a
9	BHLHE40	chr11:67033588-67033897	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:67033660-67033903	HepG2	liver:	n/a	n/a
11	BRCA1	chr11:67033819-67033845	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr11:67033504-67033874	K562	blood:	n/a	n/a
13	CCNT2	chr11:67033639-67034763	K562	blood:	n/a	chr11:67034686-67034695
14	CEBPB	chr11:67035056-67035236	HepG2	liver:	n/a	n/a
15	CEBPB	chr11:67033703-67033856	Hela-S3	cervix:	n/a	n/a
16	CHD1	chr11:67034638-67036458	GM12878	blood:	n/a	n/a
17	CHD1	chr11:67034201-67034400	GM12878	blood:	n/a	n/a
18	CHD2	chr11:67034112-67034293	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr11:67033696-67033720	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr11:67033644-67033899	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr11:67034785-67036182	GM12878	blood:	n/a	n/a
22	CHD2	chr11:67033585-67033822	GM12878	blood:	n/a	n/a
23	CHD2	chr11:67035057-67035143	K562	blood:	n/a	n/a
24	CREB1	chr11:67033593-67033905	A549	lung:	n/a	n/a
25	CREB1	chr11:67034005-67034363	A549	lung:	n/a	n/a
26	CTCF	chr11:67033581-67033878	ECC-1	luminal epithelium:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
27	CTCF	chr11:67033740-67033890	HVMF	connective:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
28	CTCF	chr11:67033660-67033810	K562	blood:	n/a	n/a
29	CTCF	chr11:67033561-67034083	K562	blood:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
30	CTCF	chr11:67033700-67033850	NHEK	skin:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
31	CTCF	chr11:67033740-67033890	AG04450	lung:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
32	CTCF	chr11:67033589-67033940	A549	lung:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
33	CTCF	chr11:67033720-67033870	GM12868	blood:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
34	CTCF	chr11:67033220-67033370	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr11:67033160-67033310	BJ	skin:	n/a	n/a
36	CTCF	chr11:67033680-67033830	HRPEpiC	eye:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
37	CTCF	chr11:67033680-67033830	HPAF	blood vessel:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
38	CTCF	chr11:67033260-67033410	HVMF	connective:	n/a	n/a
39	CTCF	chr11:67033643-67033906	Lung_OC	lung:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
40	CTCF	chr11:67033697-67033894	GM13976	blood:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
41	CTCF	chr11:67033480-67033630	HRE	kidney:	n/a	n/a
42	CTCF	chr11:67034865-67034888	GM10248	blood:	n/a	n/a
43	CTCF	chr11:67033661-67033948	HepG2	liver:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
44	CTCF	chr11:67033700-67033850	HA-sp	spinal cord:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
45	CTCF	chr11:67033740-67033890	WI-38	lung:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
46	CTCF	chr11:67033680-67033830	HCFaa	heart:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
47	CTCF	chr11:67033700-67033850	HEEpiC	esophagus:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
48	CTCF	chr11:67033600-67033750	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr11:67033680-67033830	HBMEC	blood vessel:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
50	CTCF	chr11:67033680-67033830	HepG2	liver:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67033676-67033726	IMR90	lung:	fetal
2	chr11:67033676-67033726	IMR90	lung:	fetal
3	chr11:67033799-67033849	RPTEC	kidney:	n/a
4	chr11:67033594-67033644	LNCaP	prostate:	n/a
5	chr11:67034251-67034301	PFSK-1	brain:	n/a
6	chr11:67033594-67033644	SKMC	muscle:	n/a
7	chr11:67033799-67033849	HUVEC	blood vessel:	n/a
8	chr11:67034540-67034590	NHBE	bronchial:	n/a
9	chr11:67033676-67033726	HEEpiC	esophagus:	n/a
10	chr11:67034540-67034590	HEK293	kidney:	embryo
11	chr11:67033594-67033644	GM06990	blood:	n/a
12	chr11:67034540-67034590	GM12878	blood:	n/a
13	chr11:67034540-67034590	HCM	heart:	n/a
14	chr11:67033676-67033726	HL-60	blood:	n/a
15	chr11:67033676-67033726	PFSK-1	brain:	n/a
16	chr11:67034249-67034299	HepG2	liver:	n/a
17	chr11:67034251-67034301	H1-hESC	embryonic stem cell:	embryo
18	chr11:67034249-67034299	HRPEpiC	eye:	n/a
19	chr11:67034540-67034590	SAEC	small airway:	n/a
20	chr11:67033801-67033851	K562	blood:	n/a
21	chr11:67033801-67033851	ECC-1	luminal epithelium:	n/a
22	chr11:67033704-67033754	A549	lung:	n/a
23	chr11:67034540-67034590	NH-A	brain:	n/a
24	chr11:67033704-67033754	BJ	skin:	n/a
25	chr11:67033594-67033644	GM12891	blood:	n/a
26	chr11:67033801-67033851	HAEpiC	amniotic membrane:	n/a
27	chr11:67033799-67033849	AG09319	gingival:	n/a
28	chr11:67034249-67034299	PFSK-1	brain:	n/a
29	chr11:67033676-67033726	HEK293	kidney:	embryo
30	chr11:67033676-67033726	HRE	kidney:	n/a
31	chr11:67033704-67033754	NHBE	bronchial:	n/a
32	chr11:67033799-67033849	Caco-2	colon:	n/a
33	chr11:67033676-67033726	HCF	heart:	n/a
34	chr11:67033799-67033849	Hela-S3	cervix:	n/a
35	chr11:67033801-67033851	HIPEpiC	eye:	n/a
36	chr11:67033799-67033849	HCPEpiC	choroid plexus:	n/a
37	chr11:67034251-67034301	Caco-2	colon:	n/a
38	chr11:67034251-67034301	ProgFib	skin:	n/a
39	chr11:67033676-67033726	Hela-S3	cervix:	n/a
40	chr11:67033801-67033851	Hela-S3	cervix:	n/a
41	chr11:67034251-67034301	HRCEpiC	kidney:	n/a
42	chr11:67033801-67033851	SK-N-SH	brain:	n/a
43	chr11:67033799-67033849	MCF10A-Er-Src	breast:	n/a
44	chr11:67033704-67033754	PFSK-1	brain:	n/a
45	chr11:67034249-67034299	RPTEC	kidney:	n/a
46	chr11:67033799-67033849	GM12892	blood:	n/a
47	chr11:67033704-67033754	LNCaP	prostate:	n/a
48	chr11:67033799-67033849	ProgFib	skin:	n/a
49	chr11:67034249-67034299	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:67033676-67033726	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67034337..67035118-chr11:67055575..67056376,2	NB4	blood:
2	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
3	chr11:66833065..66835047-chr11:67034731..67036548,2	MCF-7	breast:
4	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
5	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
6	chr11:67033837..67034854-chr11:67056054..67056870,3	MCF-7	breast:
7	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
8	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
9	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:
10	chr11:67033990..67034733-chr11:67084414..67085207,2	Hela-S3	cervix:
11	chr11:67033435..67034183-chr11:67056208..67056959,2	K562	blood:
12	chr11:67034204..67036832-chr11:67149310..67150898,2	MCF-7	breast:
13	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
14	chr11:67033658..67035636-chr11:67159466..67162456,3	MCF-7	breast:
15	chr11:67035184..67037391-chr11:67122258..67124075,2	MCF-7	breast:
16	chr11:67032700..67034613-chr11:67124238..67125805,2	K562	blood:

Variant related genes	Relation type
ADRBK1	TF binding region
ADRBK1	CpG island
ENSG00000175482	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000173156	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000175505	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548027530	chr11:67033192-67033193	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs61758504	chr11:67033232-67033233	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533516568	chr11:67033257-67033258	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs558107426	chr11:67033280-67033281	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs570146870	chr11:67033300-67033301	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs61758505	chr11:67033332-67033333	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs141010130	chr11:67033343-67033344	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs144970399	chr11:67033362-67033363	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs61758506	chr11:67033477-67033478	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS 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
10	rs573704933	chr11:67033486-67033487	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs186280253	chr11:67033595-67033596	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs189476124	chr11:67033612-67033613	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs562262871	chr11:67033681-67033682	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs572394893	chr11:67033725-67033726	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs546149670	chr11:67033758-67033759	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs556102153	chr11:67033818-67033819	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs564461223	chr11:67033829-67033830	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs139825050	chr11:67033846-67033847	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs543848731	chr11:67033884-67033885	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs574014381	chr11:67033915-67033916	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs56137920	chr11:67033920-67033921	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs562048062	chr11:67034091-67034092	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs529454117	chr11:67034092-67034093	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs547694717	chr11:67034125-67034126	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs182084609	chr11:67034128-67034129	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs370301772	chr11:67034192-67034193	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs2228418	chr11:67034266-67034267	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs368782127	chr11:67034303-67034304	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs570109600	chr11:67034319-67034320	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs12805999	chr11:67034457-67034458	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs537446782	chr11:67034472-67034473	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs549807985	chr11:67034521-67034522	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs568079394	chr11:67034554-67034555	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs535612287	chr11:67034594-67034595	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs540862442	chr11:67034687-67034688	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs368968311	chr11:67034731-67034732	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs79069294	chr11:67034744-67034745	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs187095366	chr11:67034814-67034815	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs191524901	chr11:67034834-67034835	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs539738140	chr11:67034885-67034886	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs558084428	chr11:67034909-67034910	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs79782202	chr11:67034926-67034927	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs530499926	chr11:67034981-67034982	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs576461712	chr11:67035020-67035021	Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs142815613	chr11:67035021-67035022	Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs562182188	chr11:67035050-67035051	Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs376577817	chr11:67035210-67035211	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs183342263	chr11:67035251-67035252	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
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	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Schizophrenia	21346763	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67024400-67034000	Weak transcription	Small Intestine	intestine
2	chr11:67028600-67033600	Enhancers	HMEC	breast
3	chr11:67028800-67034000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:67028800-67034000	Enhancers	Esophagus	oesophagus
5	chr11:67029200-67033600	Weak transcription	Aorta	Aorta
6	chr11:67029200-67033600	Weak transcription	Psoas Muscle	Psoas
7	chr11:67029400-67033400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:67029400-67033400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:67029600-67033200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:67029800-67033600	Enhancers	Fetal Thymus	thymus
11	chr11:67029800-67034000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:67030200-67033200	Weak transcription	Ovary	ovary
13	chr11:67030400-67033200	Weak transcription	Fetal Brain Female	brain
14	chr11:67030400-67033400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:67030600-67033200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:67030600-67033400	Weak transcription	Brain Germinal Matrix	brain
17	chr11:67030600-67033400	Weak transcription	Brain Substantia Nigra	brain
18	chr11:67030600-67033400	Weak transcription	Fetal Kidney	kidney
19	chr11:67030600-67033600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:67030600-67034000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:67030800-67033200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:67030800-67033200	Weak transcription	Brain Anterior Caudate	brain
23	chr11:67030800-67033200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:67030800-67033200	Weak transcription	Fetal Heart	heart
25	chr11:67030800-67033200	Weak transcription	Fetal Intestine Large	intestine
26	chr11:67030800-67033200	Weak transcription	Fetal Lung	lung
27	chr11:67030800-67033200	Weak transcription	Fetal Stomach	stomach
28	chr11:67030800-67033200	Weak transcription	Right Ventricle	heart
29	chr11:67030800-67033200	Weak transcription	Stomach Mucosa	stomach
30	chr11:67030800-67033400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:67030800-67033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:67030800-67033400	Weak transcription	A549	lung
33	chr11:67030800-67033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:67030800-67033600	Weak transcription	Right Atrium	heart
35	chr11:67030800-67034000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:67031000-67033200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:67031000-67033200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:67031000-67033200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:67031000-67033200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:67031000-67033200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:67031000-67033200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:67031000-67033200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:67031000-67033200	Weak transcription	Brain Angular Gyrus	brain
44	chr11:67031000-67033200	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:67031000-67033200	Weak transcription	Lung	lung
46	chr11:67031000-67033200	Weak transcription	Pancreas	Pancrea
47	chr11:67031000-67033200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:67031000-67033200	Weak transcription	Thymus	Thymus
49	chr11:67031000-67033200	Weak transcription	K562	blood
50	chr11:67031000-67033200	Enhancers	NHEK	skin

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