Variant report

Variant	rs1347187
Chromosome Location	chr4:124743279-124743280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10030323	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10518307	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11098723	0.84[EUR][1000 genomes]
rs11945657	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12511921	0.81[EUR][1000 genomes]
rs1368507	0.83[EUR][1000 genomes]
rs16997770	0.84[CEU][hapmap];0.87[CHB][hapmap]
rs1820372	0.87[CHB][hapmap];0.81[GIH][hapmap]
rs1865127	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1897621	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986305	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2060286	0.81[EUR][1000 genomes]
rs2390589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833953	0.82[EUR][1000 genomes]
rs4833956	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62321806	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62321807	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621845	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72621846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7683595	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs963892	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124735200-124753800	Weak transcription	Psoas Muscle	Psoas
2	chr4:124737600-124752200	Weak transcription	Gastric	stomach
3	chr4:124738400-124748000	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:124740200-124744800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:124741000-124745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:124741200-124745200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:124741200-124745200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:124741400-124745000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:124741400-124745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:124741400-124746600	Weak transcription	NHDF-Ad	bronchial
11	chr4:124742200-124743800	Enhancers	Fetal Intestine Large	intestine
12	chr4:124742400-124743600	Enhancers	Fetal Lung	lung
13	chr4:124742800-124743400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:124742800-124743800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:124742800-124744000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:124743000-124743400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:124743000-124743400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:124743000-124743400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:124743000-124743400	Enhancers	HMEC	breast
20	chr4:124743000-124743600	Enhancers	Fetal Intestine Small	intestine
21	chr4:124743000-124743800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:124743000-124744000	Enhancers	HepG2	liver
23	chr4:124743200-124743400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:124743200-124743600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:124743200-124743600	Weak transcription	NHLF	lung
26	chr4:124743200-124759800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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