Variant report

Variant	rs508557
Chromosome Location	chr6:75318021-75318022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1041658	0.85[EUR][1000 genomes]
rs10434815	0.81[EUR][1000 genomes]
rs1318620	0.89[EUR][1000 genomes]
rs1334508	0.81[EUR][1000 genomes]
rs1537951	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1855568	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2502498	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2781831	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2781832	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2785671	0.85[EUR][1000 genomes]
rs2785682	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2785683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785685	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]
rs2785686	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349776	0.81[EUR][1000 genomes]
rs473061	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs475854	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs475924	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs488583	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490353	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs490721	0.93[EUR][1000 genomes]
rs493138	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs498111	0.85[EUR][1000 genomes]
rs502220	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs512609	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517112	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517712	0.85[EUR][1000 genomes]
rs524179	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs527379	0.85[EUR][1000 genomes]
rs531195	0.85[EUR][1000 genomes]
rs551041	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs564969	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs567525	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575612	0.85[EUR][1000 genomes]
rs6904268	0.81[EUR][1000 genomes]
rs6910123	0.81[EUR][1000 genomes]
rs6912037	0.89[EUR][1000 genomes]
rs7756702	0.85[EUR][1000 genomes]
rs9341476	0.85[EUR][1000 genomes]
rs9341482	0.81[EUR][1000 genomes]
rs9341483	0.81[EUR][1000 genomes]
rs9343176	0.85[EUR][1000 genomes]
rs9343184	0.81[EUR][1000 genomes]
rs9350554	0.85[EUR][1000 genomes]
rs9352141	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9359092	0.81[EUR][1000 genomes]
rs9360807	0.81[EUR][1000 genomes]
rs9360809	0.81[EUR][1000 genomes]
rs9360810	0.81[EUR][1000 genomes]
rs9360811	0.81[EUR][1000 genomes]
rs9360827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520746	chr6:75211546-75691814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917283	chr6:75234428-75641440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv830694	chr6:75245483-75446282	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75307000-75319000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:75315400-75318400	Enhancers	NHLF	lung
3	chr6:75315800-75320600	Enhancers	HUVEC	blood vessel
4	chr6:75316400-75318400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:75316600-75318400	Enhancers	HSMM	muscle
6	chr6:75316600-75318400	Enhancers	NHDF-Ad	bronchial
7	chr6:75316600-75320600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:75316600-75320800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:75316600-75322200	Enhancers	Osteobl	bone
10	chr6:75316800-75318400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:75316800-75318400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:75317000-75318600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:75317000-75319000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:75317000-75321400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:75317000-75322200	Enhancers	Hela-S3	cervix
16	chr6:75317200-75322200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:75317600-75318200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:75318000-75319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:75318000-75319000	Weak transcription	A549	lung
20	chr6:75318000-75319000	Weak transcription	HSMMtube	muscle
21	chr6:75318000-75319000	Weak transcription	NH-A	brain
22	chr6:75318000-75319200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:75318000-75319400	Weak transcription	Adipose Nuclei	Adipose
24	chr6:75318000-75319400	Weak transcription	HMEC	breast
25	chr6:75318000-75319600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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