Variant report

Variant	rs13005572
Chromosome Location	chr2:113832981-113832982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13011842	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027999	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13030546	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404928	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34700180	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34720511	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35998927	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55699240	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827886	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827890	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	nsv874894	chr2:113830057-113832981	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv582710	chr2:113831643-113832981	Weak transcription Enhancers Active TSS	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113825400-113833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:113825800-113839600	Enhancers	HMEC	breast
3	chr2:113826200-113833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:113830800-113833800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:113831400-113834000	Weak transcription	Stomach Mucosa	stomach
6	chr2:113831800-113833000	Enhancers	Primary T cells from cord blood	blood
7	chr2:113831800-113833000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:113831800-113833200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:113832000-113833000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:113832000-113833800	Enhancers	Fetal Thymus	thymus
11	chr2:113832200-113833000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:113832200-113833000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:113832400-113833000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:113832400-113833200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:113832400-113833200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:113832400-113834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:113832400-113835600	Enhancers	Fetal Intestine Small	intestine
18	chr2:113832600-113833000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:113832600-113834600	Weak transcription	Gastric	stomach
20	chr2:113832600-113835000	Enhancers	Fetal Intestine Large	intestine
21	chr2:113832600-113835800	Weak transcription	Lung	lung
22	chr2:113832800-113834000	Weak transcription	NHEK	skin
23	chr2:113832800-113835800	Weak transcription	Esophagus	oesophagus

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