Variant report

Variant	rs2389728
Chromosome Location	chr4:120053113-120053114
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10010982	0.87[EUR][1000 genomes]
rs10011203	0.91[EUR][1000 genomes]
rs10022764	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10033187	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10518310	0.83[AMR][1000 genomes]
rs13125695	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1459059	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1459060	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1459061	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1459062	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1903107	0.99[ASN][1000 genomes]
rs2168987	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2389727	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34183945	0.82[EUR][1000 genomes]
rs4833608	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs4834750	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4834751	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4834752	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6534125	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6534126	0.84[EUR][1000 genomes]
rs6534127	0.84[EUR][1000 genomes]
rs6534128	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68066537	0.82[EUR][1000 genomes]
rs6817570	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs718280	0.82[EUR][1000 genomes]
rs7669449	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898169	0.99[ASN][1000 genomes]
rs9307468	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region 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	chr4:120045200-120059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:120045800-120056200	Weak transcription	HSMMtube	muscle
3	chr4:120051200-120053400	Enhancers	Adipose Nuclei	Adipose
4	chr4:120051400-120054000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:120051400-120054000	Enhancers	Osteobl	bone
6	chr4:120051600-120053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:120051600-120054000	Enhancers	NHDF-Ad	bronchial
8	chr4:120051800-120053800	Enhancers	NHLF	lung
9	chr4:120051800-120054000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:120052000-120053400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:120052000-120057200	Weak transcription	Psoas Muscle	Psoas
12	chr4:120052200-120056400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:120052400-120056400	Weak transcription	HUVEC	blood vessel
14	chr4:120052600-120053200	Enhancers	Fetal Muscle Leg	muscle
15	chr4:120052600-120053200	Enhancers	Left Ventricle	heart
16	chr4:120052600-120053200	Enhancers	Pancreas	Pancrea
17	chr4:120052600-120053800	Enhancers	Aorta	Aorta
18	chr4:120052600-120054000	Enhancers	Fetal Heart	heart
19	chr4:120052600-120055800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:120052800-120053200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:120052800-120053200	Enhancers	Right Atrium	heart
22	chr4:120052800-120053200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:120052800-120053400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:120052800-120057000	Weak transcription	Right Ventricle	heart
25	chr4:120052800-120058800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:120052800-120060000	Weak transcription	Fetal Intestine Large	intestine
27	chr4:120053000-120056400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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