Variant report

Variant	rs58086358
Chromosome Location	chr2:47088199-47088200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47080558..47082163-chr2:47086057..47089027,2	K562	blood:
2	chr2:47087833..47089344-chr2:47097386..47099191,2	MCF-7	breast:
3	chr2:47084849..47086981-chr2:47087555..47090038,3	K562	blood:
4	chr2:47081883..47083635-chr2:47087209..47088853,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226548	Chromatin interaction
ENSG00000239332	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11125098	0.91[EUR][1000 genomes]
rs13415138	0.84[EUR][1000 genomes]
rs13422107	0.91[EUR][1000 genomes]
rs2278712	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34392693	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61507430	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789584	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47081400-47091000	Enhancers	NHDF-Ad	bronchial
3	chr2:47082200-47089000	Weak transcription	Colonic Mucosa	Colon
4	chr2:47083200-47088600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:47084000-47088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:47084000-47088800	Weak transcription	Right Ventricle	heart
7	chr2:47084000-47093200	Weak transcription	Ovary	ovary
8	chr2:47084000-47093600	Weak transcription	Right Atrium	heart
9	chr2:47084200-47088400	Weak transcription	Left Ventricle	heart
10	chr2:47084800-47088200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:47085000-47090400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:47085800-47089400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:47086000-47088600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:47086000-47091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:47086200-47088800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:47086200-47089400	Weak transcription	A549	lung
17	chr2:47086400-47088200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:47086400-47088400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:47086800-47090400	Weak transcription	HSMMtube	muscle
20	chr2:47087000-47088600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:47087200-47088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:47087200-47088800	Weak transcription	Osteobl	bone
23	chr2:47087200-47089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:47087200-47089200	Weak transcription	NHLF	lung
25	chr2:47087600-47088800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:47087600-47088800	Enhancers	Spleen	Spleen
27	chr2:47087600-47091600	Enhancers	Fetal Lung	lung
28	chr2:47087800-47088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:47087800-47097400	Weak transcription	Placenta Amnion	Placenta Amnion

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