Variant report

Variant	rs813308
Chromosome Location	chr5:127772080-127772081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10463844	0.90[ASN][1000 genomes]
rs1092414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11241957	0.81[ASN][1000 genomes]
rs186685	0.82[AMR][1000 genomes]
rs2263510	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331078	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331083	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792872	0.88[ASN][1000 genomes]
rs3805647	0.90[ASN][1000 genomes]
rs4145849	0.90[ASN][1000 genomes]
rs4835948	0.82[ASN][1000 genomes]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
2	chr5:127745200-127773800	Weak transcription	Right Ventricle	heart
3	chr5:127746000-127777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:127747400-127772400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:127747600-127784400	Weak transcription	Placenta	Placenta
6	chr5:127748800-127772400	Weak transcription	NH-A	brain
7	chr5:127749800-127772400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:127751200-127772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:127754400-127772200	Weak transcription	NHEK	skin
10	chr5:127756800-127772400	Weak transcription	HMEC	breast
11	chr5:127758400-127781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:127759800-127778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:127760000-127772400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:127760200-127772800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:127760600-127783200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:127760600-127791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:127763200-127776600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:127765000-127776200	Weak transcription	Fetal Stomach	stomach
19	chr5:127765000-127776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:127769800-127776200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:127770400-127772400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:127771600-127772600	Enhancers	A549	lung
23	chr5:127771600-127773000	Enhancers	Fetal Heart	heart
24	chr5:127771800-127772800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:127771800-127772800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:127771800-127773000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr5:127771800-127775400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:127772000-127776000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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