Variant report

Variant	rs7809282
Chromosome Location	chr7:137552005-137552006
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137550548..137553249-chr7:137557181..137559857,2	MCF-7	breast:
2	chr7:137544294..137548451-chr7:137549639..137552753,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1020961	0.81[EUR][1000 genomes]
rs10235475	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10244571	0.94[ASN][1000 genomes]
rs1125727	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs11769577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12531271	0.87[CEU][hapmap]
rs12669567	0.98[ASN][1000 genomes]
rs1382397	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1478535	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1564227	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2061794	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351858	0.86[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs4732272	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4732273	0.98[ASN][1000 genomes]
rs7783145	0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs7795163	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7801878	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9640912	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9642083	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9690988	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9690995	0.94[ASN][1000 genomes]
rs9757	0.83[CEU][hapmap]

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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137532200-137556400	Weak transcription	Esophagus	oesophagus
2	chr7:137532400-137552200	Weak transcription	Pancreas	Pancrea
3	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:137534200-137563000	Weak transcription	HMEC	breast
5	chr7:137535200-137562600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:137536200-137557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:137537400-137559000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:137540800-137557200	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:137542000-137558400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:137542600-137557200	Weak transcription	Spleen	Spleen
11	chr7:137543400-137553400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:137543400-137557200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:137543400-137557800	Strong transcription	NH-A	brain
14	chr7:137543400-137566800	Strong transcription	Placenta	Placenta
15	chr7:137543600-137553200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:137543800-137557400	Strong transcription	Osteobl	bone
17	chr7:137544000-137556200	Weak transcription	Fetal Intestine Small	intestine
18	chr7:137544200-137553200	Strong transcription	HSMM	muscle
19	chr7:137544200-137553400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr7:137544200-137556000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:137545000-137564200	Weak transcription	Small Intestine	intestine
22	chr7:137545200-137553200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:137545400-137553000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:137545800-137553000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:137546200-137552200	Weak transcription	NHEK	skin
26	chr7:137546200-137560000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:137546400-137556000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:137546400-137558600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:137546400-137562600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:137546400-137564000	Weak transcription	Brain Angular Gyrus	brain
31	chr7:137546600-137552200	Weak transcription	Colonic Mucosa	Colon
32	chr7:137546800-137553400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:137546800-137553400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr7:137547200-137553000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr7:137547200-137562200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:137547400-137561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:137547800-137557200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:137547800-137567200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:137548000-137553000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:137548000-137562000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:137548200-137556000	Weak transcription	Right Atrium	heart
42	chr7:137548200-137557200	Weak transcription	Lung	lung
43	chr7:137548200-137558600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:137548400-137552200	Weak transcription	Left Ventricle	heart
45	chr7:137548400-137563200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:137549000-137552200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:137549000-137552600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr7:137549200-137552400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:137549200-137556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:137549200-137556000	Weak transcription	Fetal Stomach	stomach

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