Variant report

Variant	rs4593581
Chromosome Location	chr8:119910605-119910606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119897848..119900046-chr8:119910331..119912294,2	MCF-7	breast:
2	chr8:119909629..119911189-chr8:119934739..119937482,2	MCF-7	breast:
3	chr8:119909435..119912198-chr8:119913488..119916244,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11573961	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11780196	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs12386806	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12386956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12386959	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12386960	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12675085	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253150	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13276824	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1385504	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1385505	0.89[CHB][hapmap];0.92[CHD][hapmap];0.81[ASN][1000 genomes]
rs17758011	0.89[EUR][1000 genomes]
rs2326049	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3102726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3102729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3102730	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3102731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3102733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3102734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3102735	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3103994	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3103996	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3134046	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134050	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3134059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3134060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3134061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3134062	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134064	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134069	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134071	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs3134073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134088	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134092	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134095	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4291298	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4377989	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4466434	0.94[ASN][1000 genomes]
rs4477060	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599840	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876867	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876868	0.94[ASN][1000 genomes]
rs4876872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4876873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6469781	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825904	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7829393	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831444	chr8:119757355-119915966	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv891415	chr8:119886923-119921354	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119908200-119915200	Enhancers	Fetal Intestine Small	intestine
2	chr8:119908600-119911000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:119909000-119912000	Enhancers	Fetal Intestine Large	intestine
4	chr8:119909200-119914400	Weak transcription	Aorta	Aorta
5	chr8:119909200-119916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:119909800-119914400	Weak transcription	HSMM	muscle
7	chr8:119910000-119912600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:119910000-119913200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:119910000-119913800	Weak transcription	Osteobl	bone
10	chr8:119910000-119914000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:119910000-119914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:119910000-119914200	Weak transcription	Pancreas	Pancrea
13	chr8:119910000-119915000	Weak transcription	HUVEC	blood vessel
14	chr8:119910200-119912600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:119910200-119912600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:119910200-119912800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:119910200-119912800	Weak transcription	NHDF-Ad	bronchial
18	chr8:119910200-119914200	Weak transcription	Stomach Mucosa	stomach
19	chr8:119910200-119914600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:119910200-119914800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:119910200-119914800	Weak transcription	NHEK	skin
22	chr8:119910200-119917200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:119910400-119910800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:119910400-119911000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:119910400-119912800	Weak transcription	NHLF	lung
26	chr8:119910600-119910800	Enhancers	Liver	Liver
27	chr8:119910600-119914400	Weak transcription	Hela-S3	cervix
28	chr8:119910600-119914400	Weak transcription	HMEC	breast

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