Variant report

Variant	rs548148
Chromosome Location	chr6:114230444-114230445
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2615513	0.83[EUR][1000 genomes]
rs2810162	0.89[EUR][1000 genomes]
rs2810163	0.85[EUR][1000 genomes]
rs352095	1.00[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs352096	0.89[EUR][1000 genomes]
rs352098	1.00[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs45695	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs471595	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs486167	1.00[CEU][hapmap];0.81[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs499349	0.91[CEU][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs512727	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs514949	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs530459	0.92[CEU][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs546087	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs551673	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs552557	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs560836	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs563502	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs568317	0.90[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs580820	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv830779	chr6:114206534-114246099	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs548148	GOPC	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114225800-114231000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:114226200-114242000	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:114226600-114246000	Weak transcription	Fetal Stomach	stomach
4	chr6:114226800-114240400	Weak transcription	Left Ventricle	heart
5	chr6:114229000-114230600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:114230000-114230600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:114230000-114230600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:114230000-114230600	Enhancers	Ovary	ovary
9	chr6:114230000-114230600	Enhancers	Osteobl	bone
10	chr6:114230200-114230600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:114230200-114230800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:114230400-114230600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:114230400-114230600	Enhancers	Brain Angular Gyrus	brain
14	chr6:114230400-114230800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:114230400-114230800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:114230400-114230800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:114230400-114230800	Enhancers	Brain Anterior Caudate	brain
18	chr6:114230400-114230800	Enhancers	HUVEC	blood vessel
19	chr6:114230400-114230800	Active TSS	NHDF-Ad	bronchial

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