Variant report

Variant	rs17428241
Chromosome Location	chr5:119943901-119943902
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11949516	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12153712	0.92[ASN][1000 genomes]
rs12187844	1.00[CHB][hapmap]
rs1375467	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1404303	0.91[CEU][hapmap];0.83[ASN][1000 genomes]
rs1449166	1.00[CHB][hapmap];0.83[CHD][hapmap];0.83[ASN][1000 genomes]
rs1449167	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1524560	0.80[CEU][hapmap]
rs1551017	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1551019	1.00[CHB][hapmap]
rs17427447	0.91[CEU][hapmap];0.83[ASN][1000 genomes]
rs17429292	0.82[ASW][hapmap];1.00[CHB][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs17429498	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs17493781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1900885	0.83[ASN][1000 genomes]
rs1900889	0.83[ASN][1000 genomes]
rs2011223	1.00[CHB][hapmap]
rs2122193	0.82[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs2124168	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840170	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4895163	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs55709959	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56345223	0.83[ASN][1000 genomes]
rs62376428	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376429	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62376431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62376456	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62376457	0.83[ASN][1000 genomes]
rs62376458	0.83[ASN][1000 genomes]
rs62377787	0.83[ASN][1000 genomes]
rs62377788	0.83[ASN][1000 genomes]
rs62377791	0.83[ASN][1000 genomes]
rs985264	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv949499	chr5:119869763-119999008	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119938600-119946000	Enhancers	NHDF-Ad	bronchial
2	chr5:119938800-119950000	Weak transcription	Aorta	Aorta
3	chr5:119939800-119944600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:119941600-119946600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:119941800-119945400	Enhancers	Osteobl	bone
6	chr5:119941800-119950200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:119942000-119944200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:119942000-119945200	Weak transcription	Hela-S3	cervix
9	chr5:119942000-119947000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:119942600-119944000	Weak transcription	NH-A	brain
11	chr5:119942600-119945400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:119942600-119949400	Weak transcription	HMEC	breast
13	chr5:119942600-119949600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:119942600-119952800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:119943000-119944200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:119943000-119945800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:119943200-119944200	Enhancers	HSMMtube	muscle
18	chr5:119943600-119944200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:119943600-119944200	Genic enhancers	HSMM	muscle
20	chr5:119943600-119944600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:119943800-119944600	Enhancers	NHLF	lung

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