Variant report

Variant	rs2682748
Chromosome Location	chr12:119179511-119179512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1356952	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1402336	1.00[ASN][1000 genomes]
rs1402337	1.00[ASN][1000 genomes]
rs1542858	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1829563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846597	1.00[ASN][1000 genomes]
rs2649932	1.00[ASN][1000 genomes]
rs2649950	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682779	1.00[ASN][1000 genomes]
rs2682780	1.00[ASN][1000 genomes]
rs2682785	1.00[ASN][1000 genomes]
rs2682787	1.00[ASN][1000 genomes]
rs2730756	1.00[ASN][1000 genomes]
rs2947181	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1039515	chr12:119085196-119218918	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045363	chr12:119091734-119219659	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv519756	chr12:119092357-119227242	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:119176200-119179600	Enhancers	Brain Hippocampus Middle	brain
2	chr12:119177400-119179600	Enhancers	Brain Substantia Nigra	brain
3	chr12:119178800-119179600	Enhancers	Brain Cingulate Gyrus	brain
4	chr12:119179200-119179600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:119179400-119179600	Enhancers	Brain Angular Gyrus	brain
6	chr12:119179400-119179600	Enhancers	Brain Anterior Caudate	brain

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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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