Variant report

Variant	rs7680945
Chromosome Location	chr4:20289373-20289374
allele	A/G
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:31)

rs_ID	r²[population]
rs10516351	0.82[AMR][1000 genomes]
rs10805216	0.81[AMR][1000 genomes]
rs10938794	0.85[AMR][1000 genomes]
rs12233914	0.92[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12511950	0.81[AMR][1000 genomes]
rs12646142	0.84[AMR][1000 genomes]
rs12648551	0.81[AMR][1000 genomes]
rs13143450	0.84[CHB][hapmap]
rs1344849	0.84[AMR][1000 genomes]
rs16869521	0.81[AMR][1000 genomes]
rs16869526	0.81[AMR][1000 genomes]
rs1853386	0.88[AMR][1000 genomes]
rs2322460	0.83[CHB][hapmap]
rs4358400	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4386603	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4696953	0.81[JPT][hapmap]
rs4697157	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55911061	0.85[AMR][1000 genomes]
rs58086451	0.85[AMR][1000 genomes]
rs61333152	0.81[AMR][1000 genomes]
rs6447953	0.97[EUR][1000 genomes]
rs66478358	0.81[AMR][1000 genomes]
rs66615925	0.85[AMR][1000 genomes]
rs66875143	0.81[AMR][1000 genomes]
rs66960874	0.85[AMR][1000 genomes]
rs66981451	0.81[AMR][1000 genomes]
rs67264035	0.81[AMR][1000 genomes]
rs67506381	0.81[AMR][1000 genomes]
rs6828506	0.97[EUR][1000 genomes]
rs72619155	0.85[AMR][1000 genomes]
rs7692329	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878738	chr4:20255306-20300192	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878739	chr4:20255306-20307922	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv461287	chr4:20261786-20292239	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv593791	chr4:20261786-20292239	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv593792	chr4:20275477-20362716	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv593793	chr4:20282334-20333722	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
2	chr4:20278800-20290400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:20278800-20298000	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:20281800-20294000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:20284600-20290400	Strong transcription	Fetal Lung	lung
6	chr4:20285400-20290400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:20285400-20290600	Enhancers	NHEK	skin
8	chr4:20286200-20292400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:20286600-20291800	Enhancers	HMEC	breast
10	chr4:20286800-20289800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:20286800-20291800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:20287400-20298200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:20288600-20289400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:20288600-20289400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:20288600-20289800	Enhancers	NHDF-Ad	bronchial
16	chr4:20288600-20290400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:20288600-20290600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:20288600-20290800	Enhancers	NH-A	brain
19	chr4:20288600-20290800	Enhancers	NHLF	lung
20	chr4:20288600-20291600	Enhancers	Osteobl	bone
21	chr4:20288800-20289400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:20289000-20290200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:20289200-20290200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:20289200-20290400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:20289200-20291800	Enhancers	HUVEC	blood vessel
26	chr4:20289200-20292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:20289200-20292200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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