Variant report

Variant	rs2464685
Chromosome Location	chr12:60145200-60145201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1000708	0.84[EUR][1000 genomes]
rs10437957	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10783999	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11173156	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12426819	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1693596	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1693609	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1795886	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2132872	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2706285	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2706299	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2706301	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2711657	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2711666	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4405356	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899133	chr12:60135504-60202218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:60124000-60168800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
5	chr12:60132400-60165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:60137400-60161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:60138000-60147000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:60138600-60168400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:60138800-60173200	Weak transcription	Aorta	Aorta
10	chr12:60141800-60161000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:60143400-60157000	Weak transcription	Primary T cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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