Variant report

Variant	rs13188839
Chromosome Location	chr5:127795397-127795398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17164127	0.97[ASN][1000 genomes]
rs191347	0.82[AFR][1000 genomes]
rs35983844	1.00[ASN][1000 genomes]
rs3805652	0.89[ASN][1000 genomes]
rs3805657	0.93[ASN][1000 genomes]
rs3828662	0.89[ASN][1000 genomes]
rs6868664	0.84[ASN][1000 genomes]
rs7713363	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127772600-127807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:127772800-127799800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:127773000-127809400	Weak transcription	HMEC	breast
4	chr5:127773400-127830000	Weak transcription	NHEK	skin
5	chr5:127779400-127807400	Weak transcription	Fetal Kidney	kidney
6	chr5:127780400-127806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:127780800-127805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:127782400-127796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127784000-127826800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:127786000-127797800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:127786400-127799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:127787200-127798200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:127787400-127806200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:127788800-127810600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:127789600-127802800	Weak transcription	Left Ventricle	heart
16	chr5:127790600-127802200	Weak transcription	Fetal Lung	lung
17	chr5:127792200-127798200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:127792200-127807000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:127792200-127808200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:127792400-127798600	Weak transcription	Placenta	Placenta
21	chr5:127792400-127799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:127792400-127799800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:127792400-127812400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:127792600-127797200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:127792600-127799200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:127792800-127797400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:127792800-127805800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:127793200-127802800	Weak transcription	Fetal Stomach	stomach
29	chr5:127793800-127795800	Weak transcription	Fetal Heart	heart
30	chr5:127794200-127797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:127794800-127796400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:127795200-127795800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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