Variant report

Variant	rs4664499
Chromosome Location	chr2:152584153-152584154
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152582502..152584750-chr2:152594668..152596852,2	MCF-7	breast:
2	chr2:152579209..152581480-chr2:152582486..152584522,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10165921	0.95[JPT][hapmap]
rs10170273	0.85[GIH][hapmap]
rs10178880	0.82[GIH][hapmap]
rs10180065	0.85[ASN][1000 genomes]
rs10185966	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682909	1.00[CEU][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11894672	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11896217	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12464543	0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs12472627	0.82[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap]
rs12618063	0.87[GIH][hapmap]
rs12620077	0.82[GIH][hapmap]
rs12693116	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1523181	1.00[CEU][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs16830418	1.00[CEU][hapmap]
rs1916301	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2030588	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3768658	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs3922996	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3922997	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4233654	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4266011	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4300824	0.89[GIH][hapmap];0.95[JPT][hapmap]
rs4306714	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4316939	0.95[JPT][hapmap]
rs4393745	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4414677	0.82[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.85[ASN][1000 genomes]
rs4450595	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4453694	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]
rs4465763	0.81[CHB][hapmap]
rs4510224	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4536649	0.82[GIH][hapmap]
rs4552188	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4605370	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4664066	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs4664494	0.82[GIH][hapmap]
rs4664498	0.92[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs59444636	0.82[ASN][1000 genomes]
rs6433590	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6433680	1.00[CEU][hapmap]
rs6711382	0.91[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6712443	0.87[GIH][hapmap]
rs6712533	0.87[GIH][hapmap]
rs6715027	0.84[ASN][1000 genomes]
rs6715607	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6716286	0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs6740508	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6741567	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743968	1.00[CEU][hapmap]
rs6749823	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755393	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs6759419	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7424335	0.92[GIH][hapmap];0.85[JPT][hapmap]
rs7426114	0.82[GIH][hapmap]
rs7557801	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7563441	0.82[ASN][1000 genomes]
rs7564024	0.83[GIH][hapmap]
rs7564630	0.85[ASN][1000 genomes]
rs7581532	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7583060	0.85[ASN][1000 genomes]
rs7583148	0.85[ASN][1000 genomes]
rs9287998	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9288006	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap]

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	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	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152575800-152584200	Weak transcription	Aorta	Aorta
2	chr2:152581800-152584200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:152581800-152585400	Weak transcription	Psoas Muscle	Psoas
4	chr2:152582000-152584200	Weak transcription	HSMMtube	muscle
5	chr2:152582800-152586400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:152583000-152584400	Genic enhancers	Fetal Muscle Leg	muscle
7	chr2:152583000-152586400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
8	chr2:152583000-152587400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
9	chr2:152584000-152584800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:152584000-152585200	Flanking Active TSS	A549	lung
11	chr2:152584000-152588400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:152584000-152588600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:152584000-152591000	Enhancers	Fetal Lung	lung

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