Variant report

Variant	rs9436430
Chromosome Location	chr1:47783966-47783967
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47778166..47781558-chr1:47781655..47786926,8	K562	blood:
2	chr1:47776996..47781717-chr1:47782920..47788458,9	K562	blood:

Variant related genes	Relation type
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10157883	0.95[JPT][hapmap]
rs10789507	0.88[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs10890475	0.94[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890476	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10890477	0.83[EUR][1000 genomes]
rs10890478	0.89[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211504	0.94[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211508	0.94[CEU][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11211510	0.86[ASN][1000 genomes]
rs11211511	0.88[ASN][1000 genomes]
rs11211513	0.94[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211517	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11211520	0.89[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211521	0.82[EUR][1000 genomes]
rs11211522	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211523	0.84[EUR][1000 genomes]
rs11211524	0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs11578038	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11582877	0.89[CEU][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12024163	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12039726	0.95[JPT][hapmap]
rs12040451	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12042624	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12046294	0.90[EUR][1000 genomes]
rs12047319	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12048407	0.83[EUR][1000 genomes]
rs12409549	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12566521	0.83[EUR][1000 genomes]
rs12743877	0.86[ASN][1000 genomes]
rs2405922	0.80[JPT][hapmap]
rs2472725	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2472730	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2472731	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2622925	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2742081	0.84[ASN][1000 genomes]
rs2742099	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2742103	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2742104	0.95[JPT][hapmap]
rs2758735	0.95[JPT][hapmap]
rs2758744	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2820971	0.81[JPT][hapmap]
rs2820989	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2821088	0.95[JPT][hapmap]
rs2821089	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2821092	0.82[EUR][1000 genomes]
rs2821093	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2821094	0.80[ASN][1000 genomes]
rs2821096	0.86[ASN][1000 genomes]
rs2897237	0.84[ASN][1000 genomes]
rs3088062	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs3122607	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs3122611	0.95[JPT][hapmap]
rs3122615	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs3122616	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3122619	0.95[JPT][hapmap]
rs3122620	0.80[ASN][1000 genomes]
rs3125624	0.95[JPT][hapmap]
rs3125628	0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3125630	0.95[JPT][hapmap]
rs3125631	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3125632	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs3125633	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3125635	0.94[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3125636	0.93[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3125639	0.81[ASN][1000 genomes]
rs3125640	0.85[ASN][1000 genomes]
rs3125644	0.94[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3925058	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4147192	0.83[ASN][1000 genomes]
rs4463720	0.81[ASN][1000 genomes]
rs4492666	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4603175	0.85[JPT][hapmap]
rs4926836	0.89[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs4926839	0.84[EUR][1000 genomes]
rs56987466	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58688029	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59492977	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61284456	0.83[EUR][1000 genomes]
rs61782712	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61782733	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6588348	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6660321	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs6671254	0.95[JPT][hapmap]
rs6673882	0.82[JPT][hapmap]
rs6681868	0.86[ASN][1000 genomes]
rs6689687	0.88[ASN][1000 genomes]
rs6697248	0.94[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7511699	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7525650	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7532148	0.94[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7541522	0.84[EUR][1000 genomes]
rs7541748	0.80[ASN][1000 genomes]
rs7543016	0.88[ASN][1000 genomes]
rs7545281	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9436394	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9436429	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9436838	0.88[ASN][1000 genomes]
rs9436882	0.95[JPT][hapmap];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47780200-47798400	Weak transcription	Spleen	Spleen
2	chr1:47780400-47784000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:47780600-47784000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:47780600-47798000	Weak transcription	HSMMtube	muscle
5	chr1:47780800-47789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:47780800-47791200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:47780800-47797800	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:47782800-47784200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:47782800-47784200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:47782800-47784200	Enhancers	NHDF-Ad	bronchial
11	chr1:47782800-47784200	Enhancers	Osteobl	bone
12	chr1:47782800-47784400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:47783200-47784200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:47783200-47785400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:47783600-47784000	Enhancers	K562	blood
16	chr1:47783600-47784200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:47783800-47787800	Weak transcription	HepG2	liver

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