Variant report

Variant	rs4517094
Chromosome Location	chr8:99701510-99701511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99696324..99697957-chr8:99699839..99702337,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10096329	0.86[JPT][hapmap]
rs10447977	0.82[JPT][hapmap]
rs10755896	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10755897	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955186	0.87[CEU][hapmap];0.83[CHB][hapmap];0.84[EUR][1000 genomes]
rs10955187	0.87[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs10955188	0.83[EUR][1000 genomes]
rs10955189	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10955190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11774463	0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11778767	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11780292	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11780369	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11780500	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12114834	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12542649	0.89[ASN][1000 genomes]
rs12542758	0.82[CHB][hapmap]
rs12547297	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549803	0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12550012	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12550783	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12675964	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12677183	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12679268	0.94[ASN][1000 genomes]
rs12679734	0.82[AMR][1000 genomes]
rs12680195	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12680602	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13257475	0.96[CHB][hapmap];0.81[ASN][1000 genomes]
rs13269932	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13271844	0.92[ASN][1000 genomes]
rs13275372	0.82[AMR][1000 genomes]
rs13275915	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13279438	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1476181	0.83[CHB][hapmap];0.86[AMR][1000 genomes]
rs16897076	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2442012	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2442014	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2515214	0.82[CHB][hapmap];0.87[AMR][1000 genomes]
rs2922075	0.85[AMR][1000 genomes]
rs2922078	0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs2922081	0.85[AMR][1000 genomes]
rs3019293	0.85[AMR][1000 genomes]
rs34114299	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs34366206	0.81[JPT][hapmap]
rs34477118	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34855977	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35447893	0.82[EUR][1000 genomes]
rs35798019	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs4131873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4255105	0.82[AMR][1000 genomes]
rs4279561	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4304299	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4413739	0.83[CHB][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4440607	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4509292	0.96[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4541872	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4549741	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4562286	0.82[CHB][hapmap];0.87[AMR][1000 genomes]
rs4612309	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735568	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4735569	0.96[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735570	0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4735571	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735574	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57034072	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62532565	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62532577	0.86[AMR][1000 genomes]
rs62532587	0.85[AMR][1000 genomes]
rs62535381	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62535404	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62535408	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62535410	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62535412	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6651182	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6988087	0.86[JPT][hapmap]
rs6992925	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72666669	0.83[ASN][1000 genomes]
rs7818010	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs7818828	1.00[JPT][hapmap]
rs7838239	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs9656842	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99676200-99738200	Weak transcription	Fetal Kidney	kidney
2	chr8:99683400-99701600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:99683400-99712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:99683600-99712200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:99683600-99720400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:99683600-99738000	Weak transcription	NHEK	skin
7	chr8:99684400-99704000	Weak transcription	Liver	Liver
8	chr8:99684400-99712600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:99689400-99703800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:99692800-99705400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:99695200-99714600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:99695400-99705600	Weak transcription	Small Intestine	intestine
13	chr8:99696000-99712000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:99699800-99701600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:99699800-99703200	Weak transcription	Aorta	Aorta
16	chr8:99699800-99712000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:99699800-99712200	Weak transcription	Fetal Stomach	stomach
18	chr8:99699800-99712200	Weak transcription	Ovary	ovary
19	chr8:99699800-99712600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:99699800-99721000	Weak transcription	NHDF-Ad	bronchial
21	chr8:99699800-99721200	Weak transcription	Pancreas	Pancrea
22	chr8:99699800-99721400	Weak transcription	Placenta	Placenta
23	chr8:99699800-99722400	Weak transcription	Lung	lung
24	chr8:99699800-99722600	Weak transcription	Left Ventricle	heart
25	chr8:99700200-99701800	Enhancers	GM12878-XiMat	blood
26	chr8:99700200-99704200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:99700200-99706200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:99700200-99713000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:99700400-99710200	Weak transcription	Fetal Heart	heart
30	chr8:99701000-99705200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:99701000-99712400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:99701200-99712600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:99701200-99713000	Weak transcription	HSMM	muscle
34	chr8:99701400-99702000	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr8:99701400-99712200	Weak transcription	Fetal Intestine Large	intestine

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