Variant report

Variant	rs12613716
Chromosome Location	chr2:56476401-56476402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001471	0.90[JPT][hapmap]
rs10188465	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10490397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10490400	0.81[JPT][hapmap]
rs10490401	0.81[JPT][hapmap]
rs11125618	0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12623053	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12623278	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12993884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12994087	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12996636	0.95[CHB][hapmap];0.89[CHD][hapmap];0.94[MEX][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13004757	0.86[JPT][hapmap]
rs13012528	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016868	0.85[JPT][hapmap]
rs13025817	0.86[JPT][hapmap]
rs13403828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468914	0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs17047656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17047684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17047705	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2111476	0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2193485	0.85[JPT][hapmap]
rs2216325	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs2216332	0.86[JPT][hapmap]
rs35637593	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3971875	0.91[ASN][1000 genomes]
rs57041406	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6710311	0.95[CHB][hapmap]
rs6730327	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7563888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7576428	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7588401	0.91[ASN][1000 genomes]
rs7590310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591193	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591392	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759615	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs7602551	0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs9653542	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs969302	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs969303	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 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	chr2:56472600-56476800	Weak transcription	Fetal Intestine Large	intestine
2	chr2:56472600-56477600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:56473000-56487200	Weak transcription	HSMM	muscle
4	chr2:56474200-56478400	Enhancers	Fetal Heart	heart
5	chr2:56475400-56476600	Enhancers	Spleen	Spleen
6	chr2:56475400-56477000	Enhancers	Right Ventricle	heart
7	chr2:56475400-56477200	Enhancers	Psoas Muscle	Psoas
8	chr2:56475400-56477200	Enhancers	Right Atrium	heart
9	chr2:56475400-56477800	Enhancers	Left Ventricle	heart
10	chr2:56475600-56477400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:56475800-56479000	Enhancers	Adipose Nuclei	Adipose
12	chr2:56476000-56476800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:56476000-56477200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:56476200-56476600	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:56476200-56478600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:56476400-56476600	Enhancers	Lung	lung
17	chr2:56476400-56477200	Enhancers	Fetal Muscle Leg	muscle

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