Variant report

Variant	rs916606
Chromosome Location	chr11:64616237-64616238
allele	C/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	ZNF263	chr11:64615929-64616473	K562	blood:	n/a	n/a
2	CTCF	chr11:64616230-64616593	GM19238	blood:	n/a	chr11:64616308-64616321
3	SMC3	chr11:64616015-64616539	GM12878	blood:	n/a	chr11:64616307-64616321
4	POLR2A	chr11:64615865-64618292	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr11:64615470-64618194	U87	brain:	n/a	n/a
6	EBF1	chr11:64616140-64616612	GM12878	blood:	n/a	chr11:64616386-64616397
7	ELF1	chr11:64616146-64616528	K562	blood:	n/a	chr11:64616355-64616368
8	PML	chr11:64615558-64616457	GM12878	blood:	n/a	n/a
9	ZNF263	chr11:64615795-64616523	HEK293-T-REx	kidney:	n/a	n/a
10	POLR2A	chr11:64616122-64617857	GM18505	blood:	n/a	n/a
11	TCF12	chr11:64616177-64616524	GM12878	blood:	n/a	n/a
12	STAT5A	chr11:64616229-64616662	GM12878	blood:	n/a	chr11:64616329-64616341 chr11:64616257-64616269
13	POLR2A	chr11:64615609-64621066	GM12891	blood:	n/a	n/a
14	CTCF	chr11:64616154-64616673	GM12878	blood:	n/a	chr11:64616308-64616321
15	ELF1	chr11:64616057-64616625	MCF-7	breast:	n/a	chr11:64616355-64616368
16	CTCF	chr11:64616180-64616330	HRE	kidney:	n/a	chr11:64616308-64616321
17	CTCF	chr11:64616233-64616560	Pancreas_OC	pancreas:	n/a	chr11:64616308-64616321
18	POLR2A	chr11:64615590-64618194	U87	brain:	n/a	n/a
19	JUND	chr11:64616226-64616415	K562	blood:	n/a	n/a
20	TCF3	chr11:64616219-64616494	GM12878	blood:	n/a	chr11:64616315-64616329
21	CTCF	chr11:64616149-64616660	MCF-7	breast:	n/a	chr11:64616308-64616321
22	NFATC1	chr11:64615931-64616408	GM12878	blood:	n/a	n/a
23	RUNX3	chr11:64615917-64616619	GM12878	blood:	n/a	n/a
24	RAD21	chr11:64616039-64616739	MCF-7	breast:	n/a	chr11:64616311-64616321 chr11:64616309-64616322 chr11:64616616-64616628 chr11:64616618-64616628
25	BHLHE40	chr11:64616190-64616525	GM12878	blood:	n/a	n/a
26	CTCF	chr11:64616220-64616370	GM12872	blood:	n/a	chr11:64616308-64616321
27	CTCF	chr11:64616200-64616350	HEEpiC	esophagus:	n/a	chr11:64616308-64616321
28	SPI1	chr11:64616069-64616654	HL-60	blood:	n/a	chr11:64616358-64616367
29	POLR2A	chr11:64616104-64617134	HL-60	blood:	n/a	n/a
30	EP300	chr11:64616128-64616608	T-47D	breast:	n/a	n/a
31	POLR2A	chr11:64615602-64618090	GM12891	blood:	n/a	n/a
32	RAD21	chr11:64616178-64616748	H1-hESC	embryonic stem cell:	n/a	chr11:64616311-64616321 chr11:64616309-64616322 chr11:64616616-64616628 chr11:64616618-64616628
33	CHD2	chr11:64616174-64616520	GM12878	blood:	n/a	n/a
34	RUNX3	chr11:64616168-64616581	GM12878	blood:	n/a	n/a
35	BCLAF1	chr11:64615913-64616557	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:64615697-64616570	Raji	blood:	n/a	n/a
37	MTA3	chr11:64615783-64621906	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:64616185-64617849	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:64615632-64618089	GM12892	blood:	n/a	n/a
40	CTCF	chr11:64616200-64616350	MCF-7	breast:	n/a	chr11:64616308-64616321
41	SPI1	chr11:64616170-64616518	GM12878	blood:	n/a	chr11:64616358-64616367
42	POLR2A	chr11:64615614-64641325	GM12878	blood:	n/a	n/a
43	ELF1	chr11:64616001-64616659	MCF-7	breast:	n/a	chr11:64616355-64616368
44	CTCF	chr11:64616113-64616641	K562	blood:	n/a	chr11:64616308-64616321
45	ELF1	chr11:64616150-64616724	GM12878	blood:	n/a	chr11:64616355-64616368
46	CTCF	chr11:64616220-64616370	Hela-S3	cervix:	n/a	chr11:64616308-64616321
47	SPI1	chr11:64616175-64616545	GM12891	blood:	n/a	chr11:64616358-64616367
48	CTCF	chr11:64616229-64616597	NHEK	skin:	n/a	chr11:64616308-64616321
49	MAZ	chr11:64616050-64616490	GM12878	blood:	n/a	n/a
50	BCL3	chr11:64616176-64616763	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64569204..64570716-chr11:64615737..64617573,2	K562	blood:
2	chr11:64616026..64618521-chr11:64690212..64692230,2	K562	blood:
3	chr11:64615658..64616642-chr11:64646117..64646805,2	MCF-7	breast:
4	chr11:64614091..64616484-chr11:64882858..64886960,5	MCF-7	breast:
5	chr11:64615460..64618389-chr11:64682747..64685573,2	MCF-7	breast:
6	chr11:64615289..64617332-chr11:64701060..64703009,2	MCF-7	breast:
7	chr11:64611161..64616461-chr11:64883590..64887057,5	K562	blood:
8	chr11:64616076..64616705-chr11:64645398..64645972,2	MCF-7	breast:

Variant related genes	Relation type
CDC42BPG	TF binding region
ENSG00000110046	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000149735	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000168067	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11231886	0.85[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11231889	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231890	0.95[CEU][hapmap];0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11231892	0.91[YRI][hapmap]
rs12365548	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12365873	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12365878	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12790925	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12798965	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35654492	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35938015	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825015	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930277	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4930682	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930683	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs544822	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs58790228	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs647145	0.82[JPT][hapmap]
rs653343	0.82[JPT][hapmap]
rs670358	0.86[JPT][hapmap]
rs7933683	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7936466	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7942905	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription 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	1071 gene(s)	inside rSNPs	diseases
6	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
10	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
11	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
12	nsv555207	chr11:64600002-64620518	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
13	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
14	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
15	nsv870106	chr11:64610698-64640067	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64611800-64618400	Weak transcription	HSMM	muscle
2	chr11:64611800-64619200	Weak transcription	HSMMtube	muscle
3	chr11:64611800-64620800	Weak transcription	HUVEC	blood vessel
4	chr11:64611800-64621200	Weak transcription	Fetal Heart	heart
5	chr11:64612400-64619400	Weak transcription	Aorta	Aorta
6	chr11:64612600-64617200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:64612600-64618600	Weak transcription	NH-A	brain
8	chr11:64612600-64619000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:64612600-64620000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:64612600-64620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:64612600-64621000	Weak transcription	Brain Anterior Caudate	brain
12	chr11:64612600-64639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:64612800-64616600	Weak transcription	Small Intestine	intestine
14	chr11:64612800-64616800	Weak transcription	Osteobl	bone
15	chr11:64612800-64619000	Enhancers	Placenta	Placenta
16	chr11:64613000-64616400	Weak transcription	Lung	lung
17	chr11:64613000-64618400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:64613000-64618600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:64613000-64618600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:64613000-64629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:64613000-64630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:64613200-64618600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:64614200-64616800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:64614400-64616600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:64614400-64616600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:64614400-64616600	Enhancers	A549	lung
27	chr11:64614400-64616800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:64614400-64617200	Enhancers	Fetal Intestine Small	intestine
29	chr11:64614400-64617400	Enhancers	K562	blood
30	chr11:64614400-64617600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:64614400-64617800	Enhancers	Liver	Liver
32	chr11:64614400-64617800	Enhancers	Fetal Intestine Large	intestine
33	chr11:64614400-64617800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:64614400-64617800	Enhancers	HMEC	breast
35	chr11:64614400-64618600	Enhancers	Primary B cells from cord blood	blood
36	chr11:64614400-64618600	Enhancers	Primary B cells from peripheral blood	blood
37	chr11:64614400-64618600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr11:64614400-64618600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:64614400-64618600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:64614400-64618600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr11:64614400-64618800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr11:64614400-64619200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:64614400-64619400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:64614400-64619400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:64614400-64619600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr11:64614400-64619600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:64614400-64620800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:64614400-64620800	Enhancers	Stomach Mucosa	stomach
49	chr11:64614400-64621000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:64614600-64617800	Enhancers	Primary T cells from cord blood	blood

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