Variant report

Variant	rs7931944
Chromosome Location	chr11:75610482-75610483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75599406..75601050-chr11:75607902..75610678,2	MCF-7	breast:
2	chr11:75608840..75611498-chr11:75640289..75642202,2	K562	blood:

Variant related genes	Relation type
ENSG00000198382	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11820368	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11822610	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823080	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825180	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825402	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827625	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380074	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1380076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134444	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134447	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134448	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17810401	0.83[AMR][1000 genomes]
rs1995893	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2099856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2371719	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5026790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56366270	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58050930	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59147439	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59656978	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60175455	0.84[EUR][1000 genomes]
rs60935802	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61311719	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592616	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104218	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107458	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7108765	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7109235	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109363	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113365	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113952	0.89[YRI][hapmap]
rs7114160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7115483	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115657	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7117696	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7125495	0.82[YRI][hapmap]
rs7126845	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127326	0.81[GIH][hapmap];1.00[TSI][hapmap]
rs713275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493909	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493938	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493942	1.00[EUR][1000 genomes]
rs73493943	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493944	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493952	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7927825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7927853	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7927868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931418	0.97[EUR][1000 genomes]
rs7937633	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7941207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7949033	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951333	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv515973	chr11:75569267-75832315	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75562600-75630400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:75562800-75610800	Weak transcription	HSMMtube	muscle
3	chr11:75570000-75610600	Weak transcription	NHDF-Ad	bronchial
4	chr11:75580400-75610800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:75584600-75624200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:75585000-75628400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:75586600-75615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:75586600-75676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:75587400-75621600	Weak transcription	Ovary	ovary
10	chr11:75587600-75614600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:75587600-75631600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:75589600-75635800	Weak transcription	NHEK	skin
13	chr11:75590400-75610600	Weak transcription	Fetal Lung	lung
14	chr11:75590800-75627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:75592600-75613800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:75600400-75615200	Weak transcription	Fetal Heart	heart
17	chr11:75600600-75610600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:75601200-75610600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:75601200-75614400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:75601400-75611600	Weak transcription	Esophagus	oesophagus
21	chr11:75601600-75614200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:75603400-75627600	Weak transcription	Spleen	Spleen
23	chr11:75603600-75610600	Weak transcription	Aorta	Aorta
24	chr11:75603600-75610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:75603600-75657000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:75603800-75613400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:75603800-75614400	Weak transcription	Fetal Kidney	kidney
28	chr11:75603800-75623400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:75603800-75623800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:75603800-75626400	Weak transcription	K562	blood
31	chr11:75604000-75610600	Weak transcription	Adipose Nuclei	Adipose
32	chr11:75604000-75612000	Weak transcription	Hela-S3	cervix
33	chr11:75604000-75613600	Weak transcription	Fetal Intestine Large	intestine
34	chr11:75604000-75613800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:75604000-75618400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:75604000-75622600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:75604000-75623200	Weak transcription	Dnd41	blood
38	chr11:75604200-75624200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:75604400-75610600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:75604400-75610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:75604400-75610800	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:75604400-75622200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:75604400-75623400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:75604400-75623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:75604600-75610600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:75604600-75621800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:75604600-75626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:75604600-75657600	Weak transcription	Fetal Thymus	thymus
49	chr11:75605000-75614000	Weak transcription	Primary T cells from cord blood	blood
50	chr11:75605000-75623200	Weak transcription	Liver	Liver

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