Variant report

Variant	rs4714955
Chromosome Location	chr6:12903435-12903436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1014342	0.89[CEU][hapmap]
rs12526453	0.84[CEU][hapmap]
rs12530250	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13197912	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13211739	1.00[CHB][hapmap]
rs13219256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1332844	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1332845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1332846	0.80[EUR][1000 genomes]
rs1332847	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1537340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1953088	0.90[CEU][hapmap]
rs2327620	0.88[EUR][1000 genomes]
rs2327621	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2876300	0.80[EUR][1000 genomes]
rs2876302	0.80[EUR][1000 genomes]
rs2876303	0.89[CEU][hapmap]
rs34343839	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34944538	0.82[EUR][1000 genomes]
rs35355695	0.83[EUR][1000 genomes]
rs4711863	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4714951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs4714990	0.89[CEU][hapmap]
rs62386818	0.83[ASN][1000 genomes]
rs62389954	0.80[EUR][1000 genomes]
rs62389955	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6458545	0.90[CEU][hapmap]
rs6911226	0.91[EUR][1000 genomes]
rs6915983	0.91[EUR][1000 genomes]
rs6925904	0.90[EUR][1000 genomes]
rs71562459	0.82[EUR][1000 genomes]
rs7454157	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7739181	0.89[CEU][hapmap]
rs7750679	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7751826	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7760016	0.88[EUR][1000 genomes]
rs7760527	0.88[EUR][1000 genomes]
rs8180558	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296512	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9369640	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9381494	0.84[EUR][1000 genomes]
rs9381500	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9395214	1.00[CEU][hapmap];0.88[EUR][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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Coronary artery disease or ischemic stroke	24262325	GWAS catalog
Coronary artery disease or large artery stroke	24262325	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12885600-12908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:12894000-12908800	Weak transcription	Fetal Brain Female	brain
3	chr6:12896600-12904800	Weak transcription	Brain Anterior Caudate	brain
4	chr6:12896600-12911000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:12898000-12907000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:12900200-12905400	Weak transcription	Aorta	Aorta
7	chr6:12901400-12908800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:12902800-12903800	Enhancers	Small Intestine	intestine
9	chr6:12903000-12904000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:12903000-12904000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr6:12903200-12903800	Enhancers	Duodenum Mucosa	Duodenum
12	chr6:12903200-12903800	Enhancers	Psoas Muscle	Psoas
13	chr6:12903200-12903800	Enhancers	Right Ventricle	heart
14	chr6:12903200-12904000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:12903200-12904000	Enhancers	Stomach Smooth Muscle	stomach
16	chr6:12903400-12903800	Enhancers	HSMM	muscle

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