Variant report

Variant	rs6917425
Chromosome Location	chr6:130947351-130947352
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17059337	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17828460	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17828682	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2326972	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6902478	0.86[EUR][1000 genomes]
rs6902528	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6902922	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6905090	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6908038	0.86[EUR][1000 genomes]
rs6924980	0.86[EUR][1000 genomes]
rs6930778	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6936854	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7739307	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7774053	0.86[EUR][1000 genomes]
rs9483154	0.87[EUR][1000 genomes]
rs9492660	0.86[EUR][1000 genomes]
rs9492661	0.84[EUR][1000 genomes]
rs9492662	0.86[EUR][1000 genomes]
rs9492663	0.86[EUR][1000 genomes]
rs9492665	0.86[EUR][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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv427767	chr6:130875056-131008620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130946000-130947400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:130946400-130947400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:130946400-130947600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:130946400-130948000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:130946400-130948000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:130946600-130948000	Enhancers	NHDF-Ad	bronchial
7	chr6:130946800-130947800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:130946800-130947800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:130946800-130947800	Enhancers	HUVEC	blood vessel
10	chr6:130946800-130948000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:130946800-130948000	Enhancers	HSMM	muscle
12	chr6:130946800-130948000	Enhancers	Osteobl	bone
13	chr6:130946800-130948200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:130947000-130947400	Enhancers	Hela-S3	cervix
15	chr6:130947000-130947600	Active TSS	GM12878-XiMat	blood
16	chr6:130947000-130947800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:130947000-130947800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:130947000-130947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:130947000-130947800	Enhancers	HSMMtube	muscle
20	chr6:130947000-130947800	Enhancers	NH-A	brain
21	chr6:130947000-130947800	Enhancers	NHEK	skin
22	chr6:130947000-130947800	Enhancers	NHLF	lung
23	chr6:130947000-130948000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:130947000-130948000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:130947200-130947400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:130947200-130947600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:130947200-130947800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:130947200-130948000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:130947200-130948400	Enhancers	HUES64 Cell Line	embryonic stem cell

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