Variant report

Variant	rs6742234
Chromosome Location	chr2:11798481-11798482
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11689037	0.94[ASN][1000 genomes]
rs11689220	0.94[ASN][1000 genomes]
rs4467248	0.83[ASN][1000 genomes]
rs4669766	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6708777	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11780600-11807200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:11783600-11800000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:11792200-11800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:11796800-11798600	Weak transcription	Hela-S3	cervix
5	chr2:11797400-11798800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:11797800-11799200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:11797800-11800000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:11798000-11799400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:11798000-11799400	Enhancers	NHEK	skin
10	chr2:11798200-11798600	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:11798200-11799400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:11798200-11809800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:11798400-11798600	Bivalent Enhancer	K562	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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