Variant report

Variant	rs7008590
Chromosome Location	chr8:126605333-126605334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126551415..126553791-chr8:126604012..126607735,3	MCF-7	breast:
2	chr8:126440732..126445779-chr8:126600349..126612045,20	MCF-7	breast:
3	chr8:126602958..126605776-chr8:126609153..126611231,2	MCF-7	breast:
4	chr8:126509004..126511702-chr8:126604698..126606294,2	MCF-7	breast:
5	chr8:126520525..126522060-chr8:126604216..126606404,2	MCF-7	breast:
6	chr8:126584493..126586027-chr8:126604796..126607336,2	MCF-7	breast:
7	chr8:126455135..126457376-chr8:126604842..126607089,2	MCF-7	breast:
8	chr8:126585008..126593535-chr8:126599853..126611131,18	MCF-7	breast:
9	chr8:126507152..126508926-chr8:126605095..126607004,2	MCF-7	breast:
10	chr8:126601003..126603272-chr8:126603536..126606567,4	MCF-7	breast:
11	chr8:126449216..126452088-chr8:126604011..126606730,3	MCF-7	breast:
12	chr8:126593642..126596532-chr8:126599701..126606279,16	MCF-7	breast:
13	chr8:126605005..126607033-chr8:126613419..126615572,2	MCF-7	breast:
14	chr8:126591683..126594528-chr8:126604953..126606548,2	K562	blood:
15	chr8:126441094..126445421-chr8:126601055..126606149,10	MCF-7	breast:
16	chr8:126592961..126594666-chr8:126603938..126605486,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000266452	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10086276	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10086636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111011	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1031497	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs1031498	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs12334935	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12386920	0.93[EUR][1000 genomes]
rs12543922	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12546476	0.94[EUR][1000 genomes]
rs12547829	0.98[EUR][1000 genomes]
rs1454616	0.96[CEU][hapmap];0.89[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs1454619	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454620	0.98[EUR][1000 genomes]
rs1963945	0.84[CEU][hapmap];0.82[GIH][hapmap]
rs28393360	0.93[EUR][1000 genomes]
rs28550378	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870946	1.00[CEU][hapmap];0.89[GIH][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs4871618	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4871619	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4871621	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs6980895	0.91[EUR][1000 genomes]
rs6981560	1.00[CEU][hapmap];0.89[GIH][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes]
rs6986030	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6986139	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6986305	1.00[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.99[EUR][1000 genomes]
rs6996614	0.84[EUR][1000 genomes]
rs6996809	0.93[EUR][1000 genomes]
rs7001406	0.94[EUR][1000 genomes]
rs7012744	0.93[EUR][1000 genomes]
rs7012936	0.96[CEU][hapmap];0.89[GIH][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs729797	0.88[CEU][hapmap]
rs897158	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs897160	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs897161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297718	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015513	chr8:126602536-126618074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126602200-126606600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:126602200-126608600	Enhancers	Placenta	Placenta
3	chr8:126602400-126606800	Enhancers	NHEK	skin
4	chr8:126602400-126607400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:126602600-126605400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:126602600-126606800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:126602800-126607400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:126603400-126605400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:126603800-126607000	Enhancers	Esophagus	oesophagus
10	chr8:126603800-126607200	Enhancers	Pancreas	Pancrea
11	chr8:126604000-126605600	Weak transcription	A549	lung
12	chr8:126604000-126605800	Enhancers	HSMMtube	muscle
13	chr8:126604000-126606200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:126604000-126608800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr8:126604200-126605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:126604600-126605400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:126604600-126606400	Weak transcription	Left Ventricle	heart
18	chr8:126604600-126607000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr8:126604800-126606600	Weak transcription	Right Ventricle	heart
20	chr8:126605000-126605800	Enhancers	Adipose Nuclei	Adipose
21	chr8:126605000-126606200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:126605000-126606600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:126605200-126605600	Enhancers	Fetal Thymus	thymus
24	chr8:126605200-126605800	Weak transcription	Lung	lung
25	chr8:126605200-126606200	Weak transcription	HMEC	breast
26	chr8:126605200-126606400	Weak transcription	Spleen	Spleen

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