Variant report

Variant	rs12466601
Chromosome Location	chr2:63556348-63556349
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10496101	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10496102	1.00[YRI][hapmap]
rs11125949	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs12464471	1.00[YRI][hapmap]
rs12471038	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12473894	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs12475441	1.00[YRI][hapmap]
rs12478442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1517403	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1517408	0.81[CHB][hapmap]
rs17348207	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs17408988	0.82[CHB][hapmap]
rs17474666	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1829526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2421879	0.82[CHB][hapmap]
rs2699394	0.81[CHB][hapmap]
rs2699396	0.81[CHB][hapmap]
rs2901574	0.82[CHB][hapmap]
rs4671458	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs4671459	0.90[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4671461	0.90[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs72813476	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72813478	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72815371	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72815377	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72815379	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv535768	chr2:63413596-63631407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1009191	chr2:63473443-63578508	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1014935	chr2:63545598-63599535	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1012628	chr2:63545598-63604859	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1013613	chr2:63545598-63606689	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63531000-63571400	Weak transcription	Left Ventricle	heart
2	chr2:63551800-63560400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:63552600-63571400	Weak transcription	Ovary	ovary
4	chr2:63552800-63561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:63553000-63573600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:63555200-63571400	Weak transcription	Aorta	Aorta
7	chr2:63555800-63561400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:63555800-63569000	Weak transcription	Adipose Nuclei	Adipose
9	chr2:63556200-63561400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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