Variant report

Variant	rs1317735
Chromosome Location	chr6:118709367-118709368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10484289	1.00[YRI][hapmap]
rs1079936	0.80[AFR][1000 genomes]
rs1317073	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs17080137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080257	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs17080282	1.00[YRI][hapmap]
rs17080291	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs17080304	0.80[YRI][hapmap]
rs17080305	1.00[AMR][1000 genomes]
rs17080307	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080321	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17080325	1.00[AMR][1000 genomes]
rs1998482	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs56689315	1.00[AMR][1000 genomes]
rs56959050	1.00[AMR][1000 genomes]
rs57969379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58651965	1.00[AMR][1000 genomes]
rs58727849	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58824263	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59510697	1.00[AMR][1000 genomes]
rs60752825	1.00[AMR][1000 genomes]
rs60881635	1.00[AMR][1000 genomes]
rs73520372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73520374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73522409	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73522412	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73522428	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73522451	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73522486	1.00[AMR][1000 genomes]
rs73522497	1.00[AMR][1000 genomes]
rs73524113	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524117	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524120	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524155	0.80[AFR][1000 genomes]
rs73526173	1.00[AMR][1000 genomes]
rs73526179	1.00[AMR][1000 genomes]
rs73526183	1.00[AMR][1000 genomes]
rs73526192	1.00[AMR][1000 genomes]
rs73526195	1.00[AMR][1000 genomes]
rs73528703	1.00[AMR][1000 genomes]
rs73528704	1.00[AMR][1000 genomes]
rs73528730	1.00[AMR][1000 genomes]
rs735920	1.00[AMR][1000 genomes]
rs997302	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv604554	chr6:118631282-118716318	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv604555	chr6:118695049-118856822	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118699600-118716400	Weak transcription	Psoas Muscle	Psoas
2	chr6:118706000-118710400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:118707400-118729200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:118707600-118712000	Enhancers	NHLF	lung
5	chr6:118707800-118710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:118708400-118710800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:118708400-118710800	Enhancers	HUVEC	blood vessel
8	chr6:118708800-118709600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:118708800-118709600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:118708800-118710600	Enhancers	NH-A	brain
11	chr6:118708800-118710600	Enhancers	NHDF-Ad	bronchial
12	chr6:118708800-118710600	Enhancers	Osteobl	bone
13	chr6:118708800-118710800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:118708800-118710800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:118708800-118710800	Enhancers	HMEC	breast
16	chr6:118708800-118712200	Enhancers	HSMM	muscle
17	chr6:118709000-118709400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr6:118709000-118709800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:118709000-118711800	Enhancers	HSMMtube	muscle
20	chr6:118709000-118712200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:118709200-118710000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:118709200-118710600	Enhancers	Hela-S3	cervix

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