Variant report

Variant	rs376577817
Chromosome Location	chr11:67035210-67035211
allele	G/T
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	MYBL2	chr11:67034705-67035368	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:67034689-67036529	GM12892	blood:	n/a	n/a
3	MXI1	chr11:67033336-67035801	IMR90	lung:	n/a	n/a
4	FOXM1	chr11:67034690-67036217	GM12878	blood:	n/a	n/a
5	EP300	chr11:67034861-67035316	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:67034726-67037261	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67033803-67036298	GM18505	blood:	n/a	n/a
8	POLR2A	chr11:67033491-67035804	K562	blood:	n/a	n/a
9	RELA	chr11:67034757-67035334	GM10847	blood:	n/a	n/a
10	EP300	chr11:67035028-67036241	GM12878	blood:	n/a	n/a
11	TBP	chr11:67034988-67036219	GM12878	blood:	n/a	n/a
12	ZEB1	chr11:67034877-67035693	GM12878	blood:	n/a	chr11:67035268-67035277
13	CEBPB	chr11:67035056-67035236	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:67033773-67040167	NB4	blood:	n/a	n/a
15	MAX	chr11:67034446-67035378	K562	blood:	n/a	n/a
16	NFIC	chr11:67034881-67036388	GM12878	blood:	n/a	n/a
17	CHD1	chr11:67034638-67036458	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:67034677-67035547	HepG2	liver:	n/a	n/a
19	MXI1	chr11:67035147-67035210	Hela-S3	cervix:	n/a	n/a
20	STAT5A	chr11:67035007-67036269	GM12878	blood:	n/a	chr11:67035955-67035963
21	POLR2A	chr11:67034704-67036295	GM12891	blood:	n/a	n/a
22	EBF1	chr11:67034840-67036192	GM12878	blood:	n/a	n/a
23	MTA3	chr11:67034476-67036629	GM12878	blood:	n/a	n/a
24	ELF1	chr11:67034536-67036181	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:67034869-67036207	GM18951	blood:	n/a	n/a
26	CHD2	chr11:67034785-67036182	GM12878	blood:	n/a	n/a
27	HNF4G	chr11:67035005-67035283	HepG2	liver:	n/a	chr11:67035124-67035139
28	PAX5	chr11:67034870-67035223	GM12878	blood:	n/a	n/a
29	IKZF1	chr11:67035000-67035426	GM12878	blood:	n/a	n/a
30	ZEB1	chr11:67035154-67035375	GM12878	blood:	n/a	chr11:67035268-67035277
31	YY1	chr11:67034938-67035245	HepG2	liver:	n/a	n/a
32	STAT5A	chr11:67034406-67037282	GM12878	blood:	n/a	chr11:67035955-67035963
33	POLR2A	chr11:67034482-67038045	GM12892	blood:	n/a	n/a
34	RCOR1	chr11:67035066-67035266	K562	blood:	n/a	n/a
35	TBP	chr11:67034978-67035304	HepG2	liver:	n/a	n/a
36	YY1	chr11:67033582-67035268	GM12892	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
37	POLR2A	chr11:67034922-67036229	GM19193	blood:	n/a	n/a
38	POLR2A	chr11:67035170-67035287	MCF-7	breast:	n/a	n/a
39	TCF3	chr11:67034855-67035505	GM12878	blood:	n/a	chr11:67035067-67035076
40	MAX	chr11:67034816-67036503	NB4	blood:	n/a	n/a
41	RUNX3	chr11:67034743-67036352	GM12878	blood:	n/a	n/a
42	ZEB1	chr11:67034375-67035628	HepG2	liver:	n/a	chr11:67035268-67035277
43	EBF1	chr11:67034988-67036269	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:67034945-67036197	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:67034850-67035238	HepG2	liver:	n/a	n/a
46	HNF4A	chr11:67034952-67035278	HepG2	liver:	n/a	chr11:67035125-67035140
47	POLR2A	chr11:67034868-67035273	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:67034773-67036450	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:67034324-67041514	HL-60	blood:	n/a	n/a
50	POLR2A	chr11:67033578-67041547	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
2	chr11:67035184..67037391-chr11:67122258..67124075,2	MCF-7	breast:
3	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
4	chr11:66833065..66835047-chr11:67034731..67036548,2	MCF-7	breast:
5	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
6	chr11:67033658..67035636-chr11:67159466..67162456,3	MCF-7	breast:
7	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
8	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
9	chr11:67034204..67036832-chr11:67149310..67150898,2	MCF-7	breast:
10	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
11	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000175482	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	esv3419864	chr11:67031976-67036274	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
12	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
13	esv3376740	chr11:67033176-67035299	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67033400-67035400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:67033600-67035400	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr11:67033600-67035600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:67033600-67035600	Active TSS	Primary T cells from cord blood	blood
5	chr11:67033600-67035800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:67033800-67035400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:67033800-67035400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:67033800-67036000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:67034000-67035600	Active TSS	Small Intestine	intestine
10	chr11:67034400-67035400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:67034400-67035600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
12	chr11:67034400-67036400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:67034400-67036400	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:67034400-67039200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr11:67034400-67041400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr11:67034600-67035400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:67034600-67035400	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr11:67034600-67035400	Flanking Active TSS	Pancreas	Pancrea
19	chr11:67034600-67035400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
20	chr11:67034600-67035400	Flanking Active TSS	Psoas Muscle	Psoas
21	chr11:67034600-67035600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:67034600-67035600	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr11:67034600-67035800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:67034600-67035800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr11:67034600-67035800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr11:67034600-67036000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
27	chr11:67034600-67036400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr11:67034600-67036800	Flanking Active TSS	Liver	Liver
29	chr11:67034600-67039400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr11:67034600-67040800	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr11:67034600-67041400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr11:67034800-67035400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:67034800-67035400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:67034800-67035400	Flanking Active TSS	Placenta	Placenta
35	chr11:67034800-67035400	Flanking Active TSS	Right Atrium	heart
36	chr11:67034800-67035600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:67034800-67035600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:67034800-67035600	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr11:67034800-67035600	Flanking Active TSS	Fetal Heart	heart
40	chr11:67034800-67035600	Flanking Active TSS	HMEC	breast
41	chr11:67034800-67035600	Flanking Active TSS	HUVEC	blood vessel
42	chr11:67034800-67035800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr11:67034800-67035800	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr11:67034800-67035800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
45	chr11:67034800-67035800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
46	chr11:67034800-67035800	Flanking Active TSS	Left Ventricle	heart
47	chr11:67034800-67035800	Flanking Active TSS	Right Ventricle	heart
48	chr11:67034800-67035800	Flanking Active TSS	NH-A	brain
49	chr11:67034800-67035800	Flanking Active TSS	Osteobl	bone
50	chr11:67034800-67036000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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