Variant report

Variant	rs3805652
Chromosome Location	chr5:127761418-127761419
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:33)

rs_ID	r²[population]
rs10053025	0.90[JPT][hapmap]
rs13188839	0.89[ASN][1000 genomes]
rs17164094	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs17164113	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs17164127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17839642	0.94[CHD][hapmap]
rs331086	0.91[JPT][hapmap]
rs35983844	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805635	0.83[CHB][hapmap]
rs3805657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3828662	1.00[ASN][1000 genomes]
rs6595830	0.81[JPT][hapmap]
rs6595831	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs6595834	0.81[JPT][hapmap]
rs6595836	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs6595837	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs6862508	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6864057	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs6868664	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]
rs6881855	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6886186	0.81[JPT][hapmap]
rs6892484	0.81[JPT][hapmap]
rs6893116	0.81[JPT][hapmap]
rs6893181	0.81[JPT][hapmap]
rs768744	0.81[JPT][hapmap]
rs7708713	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs7713044	0.81[JPT][hapmap]
rs7713363	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722917	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs7722950	0.81[JPT][hapmap]
rs7723500	0.81[JPT][hapmap]
rs7726535	0.81[JPT][hapmap]
rs9327478	0.94[CHD][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv599698	chr5:127744825-127850855	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv1015650	chr5:127745955-127866566	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
3	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:127744400-127762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:127745200-127773800	Weak transcription	Right Ventricle	heart
6	chr5:127746000-127777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:127747400-127772400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:127747600-127784400	Weak transcription	Placenta	Placenta
9	chr5:127748800-127772400	Weak transcription	NH-A	brain
10	chr5:127749800-127763400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:127749800-127772400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:127751200-127772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:127752200-127764000	Weak transcription	Fetal Stomach	stomach
14	chr5:127754400-127762000	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:127754400-127772200	Weak transcription	NHEK	skin
16	chr5:127756800-127772400	Weak transcription	HMEC	breast
17	chr5:127758400-127781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:127759800-127762600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:127759800-127778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:127760000-127761600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:127760000-127762400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:127760000-127763000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:127760000-127771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:127760000-127772400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:127760200-127762000	Weak transcription	Fetal Kidney	kidney
26	chr5:127760200-127767000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:127760200-127772800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:127760600-127764000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:127760600-127764400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:127760600-127764600	Enhancers	Fetal Heart	heart
31	chr5:127760600-127783200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:127760600-127791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:127760800-127762000	Weak transcription	Fetal Lung	lung
34	chr5:127761400-127762000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:127761400-127762600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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