Variant report

Variant	rs12476274
Chromosome Location	chr2:212877782-212877783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10169217	0.93[ASN][1000 genomes]
rs12464843	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12466520	0.81[ASN][1000 genomes]
rs12477159	0.93[ASN][1000 genomes]
rs1402716	0.81[ASN][1000 genomes]
rs1473636	0.81[ASN][1000 genomes]
rs1473637	0.81[ASN][1000 genomes]
rs1473638	0.81[ASN][1000 genomes]
rs59081924	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6435684	0.81[ASN][1000 genomes]
rs6715981	0.81[ASN][1000 genomes]
rs7574462	0.81[ASN][1000 genomes]
rs7595560	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875792	chr2:212824999-212896571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875794	chr2:212842777-212885510	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv875797	chr2:212847605-212888988	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv875800	chr2:212856539-212896571	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv875801	chr2:212856539-212929014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv460071	chr2:212860841-212888988	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	nsv584344	chr2:212860841-212888988	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	nsv460072	chr2:212864338-212891401	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv584345	chr2:212864338-212891401	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212877400-212877800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:212877400-212878600	Enhancers	Aorta	Aorta
3	chr2:212877400-212879000	Enhancers	Osteobl	bone
4	chr2:212877600-212877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:212877600-212878000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:212877600-212881200	Enhancers	Fetal Heart	heart

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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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