Variant report

Variant	rs57376594
Chromosome Location	chr7:139530037-139530038
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	chr7:139529269..139531920-chr7:139536482..139539397,2	MCF-7	breast:
2	chr7:139476813..139479584-chr7:139529025..139531896,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064393	Chromatin interaction
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10215460	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235490	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261500	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271046	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279720	0.87[AMR][1000 genomes]
rs28377901	1.00[AMR][1000 genomes]
rs56095009	1.00[AMR][1000 genomes]
rs58946576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59027682	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59686482	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73733506	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73733509	0.87[AMR][1000 genomes]
rs73733578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv464733	chr7:139491967-139539218	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv608473	chr7:139491967-139539218	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1804134	chr7:139528662-139539855	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139526400-139535000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:139528200-139531400	Enhancers	Fetal Kidney	kidney
3	chr7:139528200-139532000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr7:139528400-139530200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr7:139528400-139530600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr7:139528400-139531000	Enhancers	Fetal Lung	lung
7	chr7:139528600-139531000	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr7:139528600-139531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:139528800-139531400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:139529000-139530200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:139529000-139530200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:139529000-139530200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr7:139529000-139530400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:139529000-139530600	Active TSS	Placenta	Placenta
15	chr7:139529000-139531200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:139529000-139531400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:139529000-139531400	Active TSS	Adipose Nuclei	Adipose
18	chr7:139529000-139531400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:139529000-139531400	Flanking Active TSS	GM12878-XiMat	blood
20	chr7:139529200-139530600	Active TSS	Fetal Muscle Leg	muscle
21	chr7:139529200-139530800	Weak transcription	Gastric	stomach
22	chr7:139529200-139531000	Active TSS	Rectal Smooth Muscle	rectum
23	chr7:139529200-139531000	Active TSS	Right Atrium	heart
24	chr7:139529200-139531200	Active TSS	Brain Hippocampus Middle	brain
25	chr7:139529200-139531400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:139529400-139530400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:139529400-139530600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:139529400-139530600	Weak transcription	Pancreas	Pancrea
29	chr7:139529400-139530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:139529400-139530800	Enhancers	Lung	lung
31	chr7:139529400-139530800	Weak transcription	Spleen	Spleen
32	chr7:139529400-139531000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr7:139529400-139531400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr7:139529400-139531400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:139529600-139530200	Active TSS	Fetal Intestine Large	intestine
36	chr7:139529600-139530200	Flanking Active TSS	Thymus	Thymus
37	chr7:139529600-139530400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr7:139529600-139531000	Enhancers	Stomach Mucosa	stomach
39	chr7:139529600-139531200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr7:139529600-139531800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr7:139529800-139530400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:139529800-139530600	Weak transcription	Brain Anterior Caudate	brain
43	chr7:139529800-139530800	Active TSS	Duodenum Mucosa	Duodenum
44	chr7:139529800-139531000	Active TSS	Liver	Liver
45	chr7:139529800-139531000	Weak transcription	Small Intestine	intestine
46	chr7:139529800-139531000	Enhancers	HepG2	liver
47	chr7:139529800-139531200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:139529800-139531400	Enhancers	Primary B cells from peripheral blood	blood
49	chr7:139529800-139531400	Active TSS	Colonic Mucosa	Colon
50	chr7:139530000-139530200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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