Variant report

Variant	rs12503051
Chromosome Location	chr4:87369063-87369064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11097111	0.85[ASN][1000 genomes]
rs11938088	0.86[JPT][hapmap]
rs11939109	0.86[JPT][hapmap]
rs12508801	0.86[JPT][hapmap]
rs12512698	0.86[JPT][hapmap]
rs12644920	0.86[JPT][hapmap]
rs12649400	0.83[ASN][1000 genomes]
rs17011731	0.85[JPT][hapmap]
rs17011843	0.86[JPT][hapmap]
rs17011890	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17011950	0.88[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2199307	0.86[JPT][hapmap]
rs2869444	0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2904095	0.86[JPT][hapmap]
rs4235079	0.85[JPT][hapmap]
rs4235080	0.85[JPT][hapmap]
rs4488910	0.85[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6531925	0.86[JPT][hapmap]
rs6856688	0.86[JPT][hapmap]
rs7669675	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12503051	HSD17B11	cis	cerebellum	SCAN
rs12503051	HDLBP	trans	cerebellum	SCAN
rs12503051	C2orf69	trans	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87342000-87372800	Weak transcription	Aorta	Aorta
2	chr4:87354600-87374000	Weak transcription	Pancreas	Pancrea
3	chr4:87363000-87370800	Weak transcription	Fetal Kidney	kidney
4	chr4:87363400-87370800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:87364800-87369800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:87364800-87370000	Weak transcription	Ovary	ovary
7	chr4:87364800-87370200	Weak transcription	Right Atrium	heart
8	chr4:87365000-87370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:87365000-87370600	Weak transcription	Brain Substantia Nigra	brain
10	chr4:87365000-87372600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:87365400-87370000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:87365600-87371800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:87367400-87370000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:87367600-87370600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:87368600-87372800	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:87369000-87369200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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