Variant report

Variant	rs57283107
Chromosome Location	chr7:116589299-116589300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10230431	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17139184	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17139270	0.89[EUR][1000 genomes]
rs2428289	0.89[EUR][1000 genomes]
rs2429008	0.83[ASN][1000 genomes]
rs2429010	0.83[ASN][1000 genomes]
rs2429032	0.86[EUR][1000 genomes]
rs2429035	0.87[ASN][1000 genomes]
rs35042045	0.95[EUR][1000 genomes]
rs4074503	0.95[EUR][1000 genomes]
rs4489259	0.82[EUR][1000 genomes]
rs61673738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61690499	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466595	0.95[EUR][1000 genomes]
rs6963873	0.81[EUR][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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116570800-116592800	Weak transcription	Right Atrium	heart
2	chr7:116583000-116591600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:116583000-116593000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:116588600-116590400	Flanking Active TSS	Fetal Heart	heart
5	chr7:116588800-116589400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:116588800-116589600	Enhancers	K562	blood
7	chr7:116588800-116590000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:116589000-116589400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:116589000-116589600	Enhancers	Pancreas	Pancrea
10	chr7:116589000-116589600	Enhancers	HepG2	liver
11	chr7:116589000-116590000	Enhancers	Aorta	Aorta
12	chr7:116589000-116590000	Enhancers	Fetal Lung	lung
13	chr7:116589000-116592800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:116589200-116589600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:116589200-116589600	Enhancers	Gastric	stomach
16	chr7:116589200-116589600	Enhancers	Stomach Mucosa	stomach
17	chr7:116589200-116591000	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:116589200-116592200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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