Variant report

Variant	rs7017698
Chromosome Location	chr8:49233849-49233850
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49183187..49183854-chr8:49233346..49234106,2	MCF-7	breast:
2	chr8:49231421..49235901-chr8:49831866..49835382,4	MCF-7	breast:
3	chr8:49231670..49234533-chr8:49280162..49283024,2	MCF-7	breast:
4	chr8:49233283..49233917-chr8:49838000..49838703,2	MCF-7	breast:
5	chr8:49230639..49234892-chr8:49832465..49836593,5	MCF-7	breast:
6	chr8:49233686..49235659-chr8:49424325..49425913,2	MCF-7	breast:
7	chr8:49084383..49085325-chr8:49233271..49234265,2	K562	blood:

Variant related genes	Relation type
ENSG00000019549	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10089957	1.00[EUR][1000 genomes]
rs10090055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094488	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103603	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107550	0.82[EUR][1000 genomes]
rs10111777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10429331	1.00[ASN][1000 genomes]
rs10441555	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779066	0.86[EUR][1000 genomes]
rs11780976	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781996	1.00[ASN][1000 genomes]
rs11783234	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334641	0.86[EUR][1000 genomes]
rs13261537	1.00[ASN][1000 genomes]
rs16935713	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16935766	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16935801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28425774	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28650140	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690717	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28759715	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873278	0.91[EUR][1000 genomes]
rs4873279	0.91[EUR][1000 genomes]
rs56379242	1.00[ASN][1000 genomes]
rs58478977	1.00[ASN][1000 genomes]
rs59662112	1.00[ASN][1000 genomes]
rs72635679	1.00[ASN][1000 genomes]
rs72635680	1.00[ASN][1000 genomes]
rs72635681	1.00[ASN][1000 genomes]
rs72635683	1.00[ASN][1000 genomes]
rs72635685	1.00[ASN][1000 genomes]
rs72635687	1.00[ASN][1000 genomes]
rs72635692	1.00[ASN][1000 genomes]
rs7833910	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834216	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838754	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49228000-49234200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:49232000-49235400	Weak transcription	Gastric	stomach
3	chr8:49232000-49235600	Weak transcription	Pancreas	Pancrea
4	chr8:49232000-49236400	Weak transcription	Esophagus	oesophagus
5	chr8:49232400-49236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:49232600-49236600	Weak transcription	HSMM	muscle
7	chr8:49232800-49236200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:49232800-49236400	Weak transcription	NH-A	brain
9	chr8:49232800-49237800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:49233000-49235200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:49233000-49236000	Weak transcription	Placenta	Placenta
12	chr8:49233000-49236200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:49233000-49236200	Weak transcription	Osteobl	bone
14	chr8:49233000-49236600	Weak transcription	NHLF	lung
15	chr8:49233200-49235000	Weak transcription	HMEC	breast
16	chr8:49233400-49235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:49233400-49235000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:49233400-49235400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:49233400-49236400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:49233400-49236400	Weak transcription	NHDF-Ad	bronchial
21	chr8:49233400-49239600	Weak transcription	Fetal Stomach	stomach
22	chr8:49233600-49235000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:49233600-49235000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:49233600-49235800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:49233600-49235800	Weak transcription	NHEK	skin
26	chr8:49233800-49234000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:49233800-49234000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:49233800-49235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:49233800-49235000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:49233800-49235800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:49233800-49236400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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