Variant report

Variant	rs493052
Chromosome Location	chr11:64078380-64078381
allele	A/G
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	EP300	chr11:64078176-64079044	T-47D	breast:	n/a	n/a
2	POLR2A	chr11:64078310-64078942	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:64078054-64079412	HepG2	liver:	n/a	n/a
4	FOXA1	chr11:64078260-64078681	HepG2	liver:	n/a	n/a
5	GATA3	chr11:64078263-64078890	T-47D	breast:	n/a	chr11:64078845-64078855
6	POLR2A	chr11:64078346-64078855	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:64078230-64079049	K562	blood:	n/a	n/a
8	FOXA1	chr11:64078270-64078695	HepG2	liver:	n/a	n/a
9	FOXA1	chr11:64078247-64078955	T-47D	breast:	n/a	n/a
10	FOXA1	chr11:64078239-64078556	HepG2	liver:	n/a	n/a
11	FOXA1	chr11:64078255-64078931	T-47D	breast:	n/a	n/a
12	FOXA2	chr11:64078354-64078565	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
2	chr11:63996255..63997930-chr11:64077428..64080262,2	MCF-7	breast:

Variant related genes	Relation type
ESRRA	TF binding region
ENSG00000257086	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000110011	Chromatin interaction
ENSG00000173486	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10128595	0.87[CHD][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10128649	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10556	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10732887	0.81[ASN][1000 genomes]
rs1124660	0.87[CHD][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs1207462	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs1213140	0.98[ASN][1000 genomes]
rs12271952	0.88[ASN][1000 genomes]
rs12281471	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12283639	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12287065	0.95[ASN][1000 genomes]
rs12574188	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12575515	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs12575690	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12577422	0.81[ASN][1000 genomes]
rs12577425	1.00[CHB][hapmap]
rs1320688	0.94[ASW][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1468558	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17159027	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1783518	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs2079786	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2232410	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2232417	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282548	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2286612	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs2289572	0.91[ASN][1000 genomes]
rs2302262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28682946	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3759056	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41294376	0.95[ASN][1000 genomes]
rs41294424	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs473379	0.82[ASN][1000 genomes]
rs474430	1.00[EUR][1000 genomes]
rs477895	1.00[LWK][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs490720	0.82[ASN][1000 genomes]
rs4930167	0.81[ASN][1000 genomes]
rs494998	0.82[ASN][1000 genomes]
rs518698	0.81[ASN][1000 genomes]
rs520277	0.81[ASN][1000 genomes]
rs539008	0.82[ASN][1000 genomes]
rs539250	0.81[ASN][1000 genomes]
rs554812	0.82[ASN][1000 genomes]
rs569741	0.82[ASN][1000 genomes]
rs575081	0.82[ASN][1000 genomes]
rs58010797	0.81[ASN][1000 genomes]
rs58488481	0.82[ASN][1000 genomes]
rs58721876	0.95[ASN][1000 genomes]
rs59283629	0.95[ASN][1000 genomes]
rs60421451	0.98[ASN][1000 genomes]
rs605597	1.00[TSI][hapmap]
rs60579179	0.81[ASN][1000 genomes]
rs605827	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs61431997	0.95[ASN][1000 genomes]
rs621816	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs650008	0.83[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs671976	0.86[YRI][hapmap]
rs687424	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102415	1.00[MEX][hapmap]
rs7110262	0.95[ASN][1000 genomes]
rs7118199	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7121001	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7934801	1.00[MEX][hapmap]
rs7950596	0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7950922	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7951858	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7952435	0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
11	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
12	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
15	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
16	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
17	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
18	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
19	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
20	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS 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	140 gene(s)	inside rSNPs	diseases
21	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
22	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
23	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
25	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
26	nsv897687	chr11:64049021-64078380	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64074000-64084400	Weak transcription	Aorta	Aorta
2	chr11:64074200-64084400	Weak transcription	Ovary	ovary
3	chr11:64074400-64080600	Weak transcription	HSMMtube	muscle
4	chr11:64074400-64084200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:64074600-64078400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:64074600-64080200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:64074600-64080400	Weak transcription	Brain Substantia Nigra	brain
8	chr11:64074600-64080400	Weak transcription	HSMM	muscle
9	chr11:64074600-64080600	Weak transcription	NHDF-Ad	bronchial
10	chr11:64074600-64081800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:64074600-64081800	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:64074600-64081800	Weak transcription	Fetal Lung	lung
13	chr11:64074600-64081800	Weak transcription	NH-A	brain
14	chr11:64074600-64082000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:64074600-64083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:64074600-64083800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:64074600-64083800	Weak transcription	HUVEC	blood vessel
18	chr11:64074600-64084000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:64074600-64084200	Weak transcription	Fetal Kidney	kidney
20	chr11:64074800-64078400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:64074800-64080000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:64074800-64080000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:64074800-64080200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:64074800-64080200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:64074800-64080400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:64074800-64080600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:64074800-64081200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:64074800-64081800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:64074800-64081800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:64074800-64081800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:64074800-64081800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:64074800-64082000	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:64074800-64082200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:64074800-64083600	Weak transcription	Osteobl	bone
35	chr11:64074800-64084000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:64074800-64084600	Weak transcription	Small Intestine	intestine
37	chr11:64075000-64078400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:64075000-64078600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:64075000-64080200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:64075000-64080200	Weak transcription	Lung	lung
41	chr11:64075000-64081600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:64075000-64081800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:64075000-64081800	Weak transcription	Primary B cells from cord blood	blood
44	chr11:64075000-64083600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:64075000-64084000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:64075000-64084200	Weak transcription	Fetal Brain Male	brain
47	chr11:64075200-64078400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:64075200-64080000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:64075200-64080000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:64075200-64080000	Strong transcription	Fetal Thymus	thymus

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