Variant report

Variant	rs6868664
Chromosome Location	chr5:127742721-127742722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10053025	0.81[JPT][hapmap]
rs13188839	0.84[ASN][1000 genomes]
rs17164094	0.81[JPT][hapmap]
rs17164113	0.81[JPT][hapmap]
rs17164127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs331086	0.91[JPT][hapmap]
rs35983844	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3805635	0.83[CHB][hapmap]
rs3805652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805657	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3828662	0.95[ASN][1000 genomes]
rs6595831	0.81[JPT][hapmap]
rs6595836	0.81[JPT][hapmap]
rs6595837	0.81[JPT][hapmap]
rs6862508	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6864057	0.81[JPT][hapmap]
rs6881855	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7708713	0.81[JPT][hapmap]
rs7713363	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127714600-127743000	Weak transcription	HMEC	breast
3	chr5:127716600-127744800	Weak transcription	Fetal Kidney	kidney
4	chr5:127725400-127743000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:127725600-127743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:127725800-127743400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:127726000-127745000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:127728400-127744200	Weak transcription	NH-A	brain
10	chr5:127731400-127747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:127733200-127744400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:127733800-127744200	Weak transcription	Right Ventricle	heart
13	chr5:127736400-127745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:127739200-127743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:127739200-127744800	Weak transcription	HUVEC	blood vessel
16	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
17	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
18	chr5:127739600-127744200	Weak transcription	Fetal Brain Male	brain
19	chr5:127739800-127744600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:127740000-127743800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:127740000-127744400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:127740200-127744400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:127740200-127744400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:127740400-127744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:127740800-127744400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:127740800-127759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:127741000-127744400	Strong transcription	Placenta	Placenta
28	chr5:127741000-127751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:127741400-127742800	Genic enhancers	Fetal Heart	heart
30	chr5:127741400-127744600	Weak transcription	NHEK	skin
31	chr5:127741800-127743400	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr5:127741800-127744400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:127742000-127743000	Strong transcription	A549	lung
34	chr5:127742200-127743000	Enhancers	Ovary	ovary
35	chr5:127742200-127743200	Enhancers	Fetal Stomach	stomach
36	chr5:127742200-127744600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:127742200-127744600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:127742200-127744600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:127742400-127742800	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:127742400-127743000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:127742400-127743000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:127742400-127743400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:127742600-127743000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:127742600-127743000	Enhancers	NHLF	lung
45	chr5:127742600-127743400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:127742600-127743800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr5:127742600-127745800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:127742600-127746000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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