Variant report

Variant	rs1992762
Chromosome Location	chr2:113810413-113810414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113808741..113811211-chr2:113813910..113818157,4	K562	blood:

Variant related genes	Relation type
ENSG00000136695	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11123159	0.83[EUR][1000 genomes]
rs11690459	0.85[EUR][1000 genomes]
rs11883847	0.90[EUR][1000 genomes]
rs11887249	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11897709	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11898158	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11899198	0.82[EUR][1000 genomes]
rs17042721	0.90[EUR][1000 genomes]
rs17042750	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042810	0.82[EUR][1000 genomes]
rs17042888	0.82[EUR][1000 genomes]
rs17486819	0.84[EUR][1000 genomes]
rs1992761	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1992763	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2121327	0.82[EUR][1000 genomes]
rs28928270	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34200521	0.90[EUR][1000 genomes]
rs34466405	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34517213	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35391805	0.90[EUR][1000 genomes]
rs3811053	0.81[EUR][1000 genomes]
rs3811054	0.82[EUR][1000 genomes]
rs56060225	0.82[EUR][1000 genomes]
rs58036696	0.82[EUR][1000 genomes]
rs58187820	0.82[EUR][1000 genomes]
rs58922543	0.82[EUR][1000 genomes]
rs59032902	0.82[EUR][1000 genomes]
rs60341065	0.82[EUR][1000 genomes]
rs60562399	0.82[EUR][1000 genomes]
rs60924024	0.82[EUR][1000 genomes]
rs72946783	0.82[EUR][1000 genomes]
rs72946788	0.82[EUR][1000 genomes]
rs72950867	0.82[EUR][1000 genomes]
rs73955148	0.82[EUR][1000 genomes]
rs73955151	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv874889	chr2:113796666-113814670	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113808600-113811600	Enhancers	Fetal Intestine Large	intestine
2	chr2:113809400-113813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113809600-113811200	Enhancers	Fetal Intestine Small	intestine

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