Variant report

Variant	rs3805647
Chromosome Location	chr5:127741163-127741164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10035972	0.83[JPT][hapmap]
rs10040225	0.83[JPT][hapmap]
rs1004965	0.83[JPT][hapmap]
rs10073062	0.83[JPT][hapmap]
rs10463844	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1092414	0.91[ASN][1000 genomes]
rs11241957	0.82[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11241959	0.89[JPT][hapmap]
rs11959823	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12656510	0.83[GIH][hapmap];0.87[MKK][hapmap];0.80[AFR][1000 genomes]
rs1435514	0.83[JPT][hapmap]
rs17677603	0.83[JPT][hapmap]
rs1858079	0.89[JPT][hapmap]
rs2263510	0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs2409539	0.83[JPT][hapmap]
rs331078	0.95[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs331083	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.93[ASN][1000 genomes]
rs331087	0.95[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs3792872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4145849	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468267	0.92[GIH][hapmap];0.92[TSI][hapmap]
rs4835948	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs4836373	0.89[JPT][hapmap]
rs4836378	0.83[JPT][hapmap]
rs6595827	0.83[JPT][hapmap]
rs6595828	0.83[JPT][hapmap]
rs6595829	0.83[JPT][hapmap]
rs6595835	0.83[JPT][hapmap]
rs6859216	0.82[JPT][hapmap]
rs6864831	0.83[JPT][hapmap]
rs6882394	0.83[JPT][hapmap]
rs6892983	0.83[JPT][hapmap]
rs764368	0.83[JPT][hapmap]
rs7713256	0.83[JPT][hapmap]
rs7719223	0.83[JPT][hapmap]
rs7721622	0.83[JPT][hapmap]
rs7726680	0.83[JPT][hapmap]
rs7734008	0.82[JPT][hapmap]
rs813308	0.90[ASN][1000 genomes]
rs892863	0.83[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:46 , 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	chr5:127686000-127742000	Weak transcription	A549	lung
4	chr5:127704800-127741800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:127714600-127743000	Weak transcription	HMEC	breast
6	chr5:127716600-127744800	Weak transcription	Fetal Kidney	kidney
7	chr5:127725400-127743000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:127725600-127743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:127725800-127743400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:127726000-127745000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:127728400-127741800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:127728400-127744200	Weak transcription	NH-A	brain
14	chr5:127729000-127742200	Weak transcription	Ovary	ovary
15	chr5:127731400-127747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:127733200-127744400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:127733800-127744200	Weak transcription	Right Ventricle	heart
18	chr5:127734400-127742600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:127736400-127745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:127737800-127742200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:127739200-127742400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:127739200-127743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:127739200-127744800	Weak transcription	HUVEC	blood vessel
24	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
25	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
26	chr5:127739600-127744200	Weak transcription	Fetal Brain Male	brain
27	chr5:127739800-127741400	Weak transcription	Fetal Heart	heart
28	chr5:127739800-127742600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:127739800-127744600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:127740000-127743800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:127740000-127744400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:127740200-127741200	Strong transcription	Fetal Muscle Leg	muscle
33	chr5:127740200-127744400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:127740200-127744400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:127740400-127744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:127740600-127741200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:127740600-127741200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr5:127740600-127741200	Strong transcription	Fetal Stomach	stomach
39	chr5:127740600-127741400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:127740600-127742400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:127740800-127744400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:127740800-127759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:127741000-127741400	Genic enhancers	NHEK	skin
44	chr5:127741000-127741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:127741000-127744400	Strong transcription	Placenta	Placenta
46	chr5:127741000-127751400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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