Variant report

Variant	rs4140434
Chromosome Location	chr1:186504172-186504173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186501486..186504451-chr1:186506329..186509291,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10489396	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs10489397	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10911877	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1108635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11582183	0.84[JPT][hapmap]
rs11799322	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11800288	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11800338	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11800651	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11801527	0.82[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11801617	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11802705	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11803944	0.85[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11803969	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11804161	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11804785	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11805289	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs11805597	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11806017	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11806304	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs11806329	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11806663	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11806701	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11807318	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11807443	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11807927	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11808165	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11808643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11808900	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11809088	0.84[EUR][1000 genomes]
rs11809402	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs11810534	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11811259	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11811260	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11811320	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs11811335	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11812050	0.82[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12402521	0.81[JPT][hapmap]
rs12723621	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12726528	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12726764	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12731288	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12731687	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12733799	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs12739006	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12739643	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12740221	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs12742751	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs12747113	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12747991	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12750686	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12752376	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12753223	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12754662	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16825361	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16825403	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16825434	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16825473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16825519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16825600	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1799957	0.81[JPT][hapmap]
rs1883650	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1919194	0.94[JPT][hapmap]
rs2008704	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2024761	0.85[JPT][hapmap]
rs2206974	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2223783	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2223784	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2383509	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2383512	0.82[EUR][1000 genomes]
rs2383513	0.84[EUR][1000 genomes]
rs2383514	0.84[EUR][1000 genomes]
rs2891249	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs33963275	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs33996079	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34200789	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34228564	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34249733	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34272627	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34310508	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34459464	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34513409	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34578387	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34778311	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34781399	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34783173	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34858233	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35205448	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35206897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35240980	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35326401	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35461575	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35481005	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35636342	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35868587	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35945739	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36016361	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36030781	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36053737	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766698	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs3766701	0.84[JPT][hapmap]
rs3817586	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs3901243	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3933210	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4140432	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58626385	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6659683	0.81[JPT][hapmap]
rs6674145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6677346	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6678198	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6680055	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6682896	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6683271	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71634161	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71634164	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71634167	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71634173	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71634175	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71634176	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186501000-186504600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:186501400-186504600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:186501400-186504600	Weak transcription	HMEC	breast
4	chr1:186501400-186505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:186501600-186504400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:186501600-186504400	Weak transcription	NHEK	skin
7	chr1:186501600-186504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:186501600-186505600	Weak transcription	HSMMtube	muscle
9	chr1:186503400-186504600	Enhancers	HUVEC	blood vessel
10	chr1:186503600-186507600	Enhancers	NHDF-Ad	bronchial
11	chr1:186503800-186505200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:186503800-186508000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186504000-186504800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:186504000-186505000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:186504000-186506200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:186504000-186506400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:186504000-186506400	Enhancers	NH-A	brain
18	chr1:186504000-186506800	Enhancers	Osteobl	bone
19	chr1:186504000-186507200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:186504000-186507400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links