Variant report

Variant	rs1232243
Chromosome Location	chr20:13345437-13345438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3827704	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4813127	0.88[EUR][1000 genomes]
rs6042169	0.86[CHB][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.81[MKK][hapmap]
rs631689	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13310200-13350000	Weak transcription	Pancreas	Pancrea
2	chr20:13325600-13354000	Weak transcription	Dnd41	blood
3	chr20:13336400-13347400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:13344000-13348800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr20:13344400-13348800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:13344600-13352000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr20:13344800-13351600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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