Variant report

Variant	rs7578911
Chromosome Location	chr2:47026368-47026369
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10495937	1.00[ASN][1000 genomes]
rs1446496	1.00[ASN][1000 genomes]
rs1446497	1.00[ASN][1000 genomes]
rs1446498	1.00[ASN][1000 genomes]
rs17035524	1.00[ASN][1000 genomes]
rs17771098	1.00[ASN][1000 genomes]
rs17771201	1.00[ASN][1000 genomes]
rs17771942	1.00[ASN][1000 genomes]
rs17773016	1.00[ASN][1000 genomes]
rs17823065	1.00[ASN][1000 genomes]
rs17823581	1.00[ASN][1000 genomes]
rs41453849	0.83[ASN][1000 genomes]
rs55928499	1.00[ASN][1000 genomes]
rs56060227	0.83[ASN][1000 genomes]
rs56199036	1.00[ASN][1000 genomes]
rs56800355	1.00[ASN][1000 genomes]
rs57124017	1.00[ASN][1000 genomes]
rs57420323	1.00[ASN][1000 genomes]
rs58200475	1.00[ASN][1000 genomes]
rs58362257	0.83[ASN][1000 genomes]
rs58509367	1.00[ASN][1000 genomes]
rs58903656	1.00[ASN][1000 genomes]
rs59186028	1.00[ASN][1000 genomes]
rs59785662	1.00[ASN][1000 genomes]
rs59882453	0.83[ASN][1000 genomes]
rs60506146	1.00[ASN][1000 genomes]
rs61075718	0.83[ASN][1000 genomes]
rs61654472	0.83[ASN][1000 genomes]
rs72802441	1.00[ASN][1000 genomes]
rs72802445	1.00[ASN][1000 genomes]
rs72802456	1.00[ASN][1000 genomes]
rs72802458	1.00[ASN][1000 genomes]
rs72802462	1.00[ASN][1000 genomes]
rs72802463	1.00[ASN][1000 genomes]
rs72802464	1.00[ASN][1000 genomes]
rs72802465	1.00[ASN][1000 genomes]
rs72802486	1.00[ASN][1000 genomes]
rs72802487	1.00[ASN][1000 genomes]
rs72802492	1.00[ASN][1000 genomes]
rs72802493	1.00[ASN][1000 genomes]
rs72802498	1.00[ASN][1000 genomes]
rs72802499	1.00[ASN][1000 genomes]
rs72802501	1.00[ASN][1000 genomes]
rs72802502	1.00[ASN][1000 genomes]
rs7566275	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv2259348	chr2:47026195-47026598	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv213855	chr2:47026328-47026382	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47019400-47029200	Weak transcription	Aorta	Aorta
2	chr2:47021400-47032600	Weak transcription	Pancreas	Pancrea
3	chr2:47021800-47027400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:47022200-47026400	Enhancers	NHDF-Ad	bronchial
5	chr2:47022200-47031000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:47023400-47027800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:47023800-47028200	Enhancers	NHLF	lung
8	chr2:47024600-47027200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:47024600-47029200	Weak transcription	Lung	lung
10	chr2:47024800-47027200	Weak transcription	Primary T cells from cord blood	blood
11	chr2:47025000-47034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:47025200-47026600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:47025200-47026800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:47025200-47029200	Weak transcription	Right Atrium	heart
15	chr2:47025200-47029400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:47025400-47026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:47025400-47028400	Weak transcription	Spleen	Spleen
18	chr2:47025400-47028600	Weak transcription	HSMM	muscle
19	chr2:47025400-47029000	Weak transcription	Right Ventricle	heart
20	chr2:47025600-47026600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:47025600-47029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:47025800-47028000	Weak transcription	Left Ventricle	heart
23	chr2:47025800-47028400	Flanking Active TSS	Osteobl	bone
24	chr2:47026000-47027600	Weak transcription	HMEC	breast
25	chr2:47026200-47026600	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:47026200-47029000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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