Variant report

Variant	rs2513723
Chromosome Location	chr11:57791499-57791500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11229181	1.00[EUR][1000 genomes]
rs11229182	1.00[EUR][1000 genomes]
rs12273150	1.00[EUR][1000 genomes]
rs12295135	1.00[EUR][1000 genomes]
rs1447176	1.00[EUR][1000 genomes]
rs17152248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152435	1.00[EUR][1000 genomes]
rs17152440	1.00[EUR][1000 genomes]
rs17152444	1.00[EUR][1000 genomes]
rs17152453	1.00[EUR][1000 genomes]
rs17152457	1.00[EUR][1000 genomes]
rs17152464	1.00[EUR][1000 genomes]
rs17152465	1.00[EUR][1000 genomes]
rs17152479	1.00[EUR][1000 genomes]
rs2084298	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2122804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441954	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2441978	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2443451	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2513722	0.85[AFR][1000 genomes]
rs2514185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514198	1.00[EUR][1000 genomes]
rs2514203	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs686459	1.00[CEU][hapmap]
rs896298	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs896299	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs975831	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv2761678	chr11:57768288-57810886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57787800-57794600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57790000-57791600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:57790200-57792600	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr11:57790200-57792800	Enhancers	Fetal Muscle Leg	muscle
5	chr11:57790600-57791600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:57790600-57792000	Enhancers	Colonic Mucosa	Colon
7	chr11:57790800-57792800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:57791000-57792400	Enhancers	Fetal Lung	lung
9	chr11:57791200-57792000	Enhancers	Right Atrium	heart
10	chr11:57791200-57792600	Enhancers	NHLF	lung
11	chr11:57791200-57792800	Enhancers	Spleen	Spleen
12	chr11:57791200-57793200	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:57791200-57798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:57791400-57791800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:57791400-57791800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:57791400-57791800	Enhancers	HSMM	muscle
17	chr11:57791400-57792200	Enhancers	Left Ventricle	heart
18	chr11:57791400-57792200	Enhancers	Pancreas	Pancrea
19	chr11:57791400-57792400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:57791400-57792400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:57791400-57792600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:57791400-57792600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr11:57791400-57792800	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:57791400-57792800	Enhancers	HepG2	liver
25	chr11:57791400-57792800	Enhancers	HUVEC	blood vessel
26	chr11:57791400-57793400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:57791400-57793400	Enhancers	Psoas Muscle	Psoas

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