Variant report

Variant	rs4453694
Chromosome Location	chr2:152539550-152539551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152538686..152541160-chr2:152542416..152544904,3	K562	blood:
2	chr2:152539206..152543340-chr2:152544613..152549104,5	K562	blood:
3	chr2:152534290..152537088-chr2:152539247..152541650,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10165921	0.95[JPT][hapmap]
rs10170273	0.83[GIH][hapmap]
rs10178880	0.80[GIH][hapmap]
rs10185966	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11682909	1.00[CEU][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11894672	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11896217	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12464543	0.80[CHD][hapmap]
rs12472627	0.82[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap]
rs12618063	0.89[GIH][hapmap]
rs12620077	0.80[GIH][hapmap]
rs12693090	0.83[ASN][1000 genomes]
rs12693116	0.88[EUR][1000 genomes]
rs1523181	1.00[CEU][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs16830418	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs1916301	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2030588	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs28375835	0.84[ASN][1000 genomes]
rs3768658	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs3922996	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3922997	0.88[EUR][1000 genomes]
rs4233654	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4266011	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4300824	0.92[GIH][hapmap];0.95[JPT][hapmap]
rs4306714	0.88[EUR][1000 genomes]
rs4316939	0.95[JPT][hapmap]
rs4393745	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4414677	0.82[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap]
rs4450595	0.88[EUR][1000 genomes]
rs4465763	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs4510224	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4536649	0.80[GIH][hapmap]
rs4552188	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4605370	0.85[EUR][1000 genomes]
rs4664066	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs4664494	0.80[GIH][hapmap]
rs4664497	0.81[ASN][1000 genomes]
rs4664498	0.90[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs4664499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59444636	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433566	0.83[ASN][1000 genomes]
rs6433590	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433680	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs6711382	0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6712443	0.89[GIH][hapmap]
rs6712533	0.89[GIH][hapmap]
rs6713162	0.82[GIH][hapmap]
rs6715607	0.87[EUR][1000 genomes]
rs6716286	0.80[CHD][hapmap]
rs6740508	0.88[EUR][1000 genomes]
rs6741567	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6743968	1.00[CEU][hapmap]
rs6749823	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6755393	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs6759419	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73007940	0.85[ASN][1000 genomes]
rs7424335	0.90[GIH][hapmap];0.85[JPT][hapmap]
rs7426114	0.85[GIH][hapmap]
rs7557801	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7564024	0.81[GIH][hapmap]
rs7581532	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9287990	0.82[GIH][hapmap]
rs9287998	0.88[EUR][1000 genomes]
rs9288006	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152505200-152543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:152514600-152542800	Strong transcription	HSMMtube	muscle
3	chr2:152529200-152550000	Weak transcription	Aorta	Aorta
4	chr2:152532800-152542400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr2:152532800-152542400	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:152533800-152544600	Weak transcription	Pancreas	Pancrea
7	chr2:152538400-152541000	Weak transcription	Psoas Muscle	Psoas
8	chr2:152539000-152539600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:152539000-152539800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:152539400-152544800	Weak transcription	K562	blood
11	chr2:152539400-152547600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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