Variant report

Variant	rs6862508
Chromosome Location	chr5:127732364-127732365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10053025	0.81[JPT][hapmap]
rs17164094	0.81[JPT][hapmap]
rs17164113	0.81[JPT][hapmap]
rs17164127	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs331086	0.91[JPT][hapmap]
rs3805635	0.83[CHB][hapmap]
rs3805652	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805657	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3828662	0.89[ASN][1000 genomes]
rs6595831	0.81[JPT][hapmap]
rs6595836	0.81[JPT][hapmap]
rs6595837	0.81[JPT][hapmap]
rs6864057	0.81[JPT][hapmap]
rs6868664	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6881855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7708713	0.81[JPT][hapmap]
rs7713363	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7722917	0.81[JPT][hapmap]
rs9327478	0.81[JPT][hapmap]

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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:127686000-127738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:127686000-127742000	Weak transcription	A549	lung
5	chr5:127695200-127737800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127696800-127738200	Weak transcription	Fetal Lung	lung
7	chr5:127704800-127741800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:127714600-127743000	Weak transcription	HMEC	breast
9	chr5:127716600-127744800	Weak transcription	Fetal Kidney	kidney
10	chr5:127720000-127739000	Weak transcription	NHEK	skin
11	chr5:127724200-127738600	Weak transcription	Fetal Brain Female	brain
12	chr5:127724400-127735200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:127725400-127738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:127725400-127743000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:127725600-127743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:127725800-127738600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:127725800-127739000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:127725800-127743400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:127726000-127745000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:127726200-127739200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:127726800-127732800	Strong transcription	Placenta	Placenta
23	chr5:127727800-127736200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:127727800-127740600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:127728400-127741800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:127728400-127744200	Weak transcription	NH-A	brain
27	chr5:127729000-127742200	Weak transcription	Ovary	ovary
28	chr5:127729200-127740600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:127729600-127736800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:127730200-127732400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:127731200-127733800	Active TSS	Right Ventricle	heart
32	chr5:127731400-127747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:127731800-127736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:127731800-127738400	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:127731800-127740000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:127731800-127740200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:127731800-127740600	Weak transcription	Fetal Stomach	stomach
38	chr5:127732000-127734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:127732200-127732400	Flanking Active TSS	Fetal Heart	heart
40	chr5:127732200-127740000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:127732200-127740000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:127732200-127740000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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