Variant report

Variant	rs61392317
Chromosome Location	chr5:167648741-167648742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10516045	1.00[EUR][1000 genomes]
rs12658120	1.00[EUR][1000 genomes]
rs17731147	0.92[ASN][1000 genomes]
rs3756603	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4976540	0.86[ASN][1000 genomes]
rs4976583	1.00[EUR][1000 genomes]
rs57386019	0.92[ASN][1000 genomes]
rs57478688	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60583187	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600255	chr5:167622534-167651603	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 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	chr5:167621400-167657600	Weak transcription	Fetal Brain Female	brain
2	chr5:167639400-167653200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:167643400-167650200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:167645800-167651200	Weak transcription	Left Ventricle	heart
5	chr5:167646000-167651200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:167646000-167653000	Weak transcription	Right Ventricle	heart
7	chr5:167646200-167649800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:167646200-167661200	Weak transcription	HMEC	breast
9	chr5:167646200-167674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:167646600-167664600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167646800-167651200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:167646800-167651400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:167646800-167651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:167646800-167651600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:167646800-167651600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:167646800-167658200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:167646800-167672000	Weak transcription	Brain Anterior Caudate	brain
18	chr5:167646800-167674000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:167646800-167695800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:167647000-167651200	Weak transcription	Right Atrium	heart
21	chr5:167647000-167657000	Weak transcription	Fetal Brain Male	brain
22	chr5:167647000-167661200	Strong transcription	NHEK	skin
23	chr5:167647200-167649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:167647200-167653600	Weak transcription	HSMM	muscle
25	chr5:167647200-167655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:167647200-167673600	Weak transcription	Fetal Lung	lung
27	chr5:167647400-167650800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:167648200-167649200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:167648600-167660600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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