Variant report

Variant	rs7012936
Chromosome Location	chr8:126609801-126609802
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126608438..126611381-chr8:126617335..126619462,2	K562	blood:
2	chr8:126440732..126445779-chr8:126600349..126612045,20	MCF-7	breast:
3	chr8:126458069..126459913-chr8:126608765..126611679,2	MCF-7	breast:
4	chr8:126585008..126593535-chr8:126599853..126611131,18	MCF-7	breast:
5	chr8:126602958..126605776-chr8:126609153..126611231,2	MCF-7	breast:
6	chr8:126440111..126444206-chr8:126606253..126610724,8	MCF-7	breast:
7	chr8:126558356..126560291-chr8:126608744..126610330,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10086276	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086636	0.96[CEU][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs10094725	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs10111011	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12334935	0.93[EUR][1000 genomes]
rs12386920	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546476	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12547829	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454616	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454619	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs1454620	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28393360	0.90[EUR][1000 genomes]
rs28550378	0.93[EUR][1000 genomes]
rs4870946	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871618	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871619	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980895	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6981560	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986030	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986139	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986305	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996614	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001406	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7008590	0.96[CEU][hapmap];0.89[GIH][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs7012744	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729797	0.81[CEU][hapmap]
rs897158	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs897161	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs9297718	1.00[CEU][hapmap];0.93[EUR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126606600-126613800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:126606800-126610400	Weak transcription	NHEK	skin
3	chr8:126606800-126610800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:126606800-126612800	Weak transcription	Spleen	Spleen
5	chr8:126606800-126613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:126606800-126614800	Weak transcription	Osteobl	bone
7	chr8:126607800-126614000	Weak transcription	Hela-S3	cervix
8	chr8:126607800-126614600	Weak transcription	A549	lung
9	chr8:126608200-126613400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:126608400-126612200	Weak transcription	Primary B cells from cord blood	blood
11	chr8:126608400-126613200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:126608400-126613600	Weak transcription	Pancreas	Pancrea
13	chr8:126608400-126618400	Weak transcription	Colonic Mucosa	Colon
14	chr8:126608600-126613400	Weak transcription	Placenta	Placenta
15	chr8:126608600-126613600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:126608600-126619800	Weak transcription	Small Intestine	intestine
17	chr8:126608800-126611800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:126608800-126613400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:126608800-126617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:126609000-126612600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:126609400-126613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:126609600-126613400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:126609600-126619800	Weak transcription	Esophagus	oesophagus

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