Variant report

Variant	rs11686530
Chromosome Location	chr2:113770464-113770465
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1013477	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10200415	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10864909	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11673918	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12468503	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12711746	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12711747	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13030063	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13033574	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1374284	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28947181	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4849139	0.88[EUR][1000 genomes]
rs4849140	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4849142	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6542108	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6542109	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6710007	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6744288	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv874878	chr2:113742734-113776076	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv963895	chr2:113760993-113772508	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv874879	chr2:113764238-113772596	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv874880	chr2:113765780-113772420	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv874881	chr2:113765780-113772596	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv874882	chr2:113765780-113773301	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv874883	chr2:113767207-113773301	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113765600-113773000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:113765600-113797400	Weak transcription	Gastric	stomach
3	chr2:113765800-113773000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:113768200-113773400	Weak transcription	Fetal Thymus	thymus
5	chr2:113768800-113771400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:113769200-113771400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:113770000-113771000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:113770000-113771200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:113770200-113770600	Flanking Active TSS	A549	lung
10	chr2:113770200-113770600	Enhancers	Osteobl	bone
11	chr2:113770200-113771000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:113770200-113771000	Enhancers	Stomach Mucosa	stomach
13	chr2:113770400-113770800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:113770400-113770800	Flanking Active TSS	K562	blood
15	chr2:113770400-113771200	Enhancers	NHEK	skin

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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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