Variant report

Variant	rs985263
Chromosome Location	chr5:119949186-119949187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10053278	0.82[JPT][hapmap]
rs1037569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1037570	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12519395	0.86[LWK][hapmap]
rs13173880	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524563	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17500705	0.82[JPT][hapmap]
rs2168216	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56126743	0.94[ASN][1000 genomes]
rs6595246	0.85[YRI][hapmap]
rs6862435	0.82[CHB][hapmap]
rs72792297	1.00[ASN][1000 genomes]
rs72792301	0.96[ASN][1000 genomes]
rs7737318	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9285891	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs9285892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9327153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9327154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9327155	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.98[ASN][1000 genomes]
rs9327156	0.87[ASN][1000 genomes]
rs9327157	0.94[ASN][1000 genomes]
rs9686370	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9716009	0.98[ASN][1000 genomes]
rs9717178	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9764195	0.98[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs985263	DMXL1	cis	parietal	SCAN
rs985263	FAM170A	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119938800-119950000	Weak transcription	Aorta	Aorta
2	chr5:119941800-119950200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:119942600-119949400	Weak transcription	HMEC	breast
4	chr5:119942600-119949600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:119942600-119952800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:119945800-119949400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:119945800-119949800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:119946000-119949200	Weak transcription	NH-A	brain
9	chr5:119946400-119949400	Weak transcription	HSMMtube	muscle
10	chr5:119946400-119949800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:119948000-119949400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:119948200-119952000	Enhancers	Osteobl	bone
13	chr5:119948400-119949800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:119948600-119949600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:119948600-119949600	Enhancers	NHDF-Ad	bronchial
16	chr5:119948600-119950400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:119948600-119952000	Enhancers	HSMM	muscle
18	chr5:119948800-119949200	Weak transcription	NHLF	lung
19	chr5:119948800-119950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:119949000-119949400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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