Variant report

Variant	rs73347136
Chromosome Location	chr5:127778751-127778752
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17839640	1.00[AMR][1000 genomes]
rs59592403	1.00[AMR][1000 genomes]
rs6880920	1.00[AMR][1000 genomes]
rs6889565	1.00[AMR][1000 genomes]
rs73345207	1.00[AMR][1000 genomes]
rs73345260	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73345294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346342	1.00[AMR][1000 genomes]
rs73350283	1.00[AMR][1000 genomes]
rs73351860	1.00[AMR][1000 genomes]
rs73351862	1.00[AMR][1000 genomes]
rs73353811	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3509757	chr5:127775553-127779451	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
6	esv3509759	chr5:127776003-127779401	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
7	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
2	chr5:127747600-127784400	Weak transcription	Placenta	Placenta
3	chr5:127758400-127781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:127759800-127778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:127760600-127783200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:127760600-127791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:127772600-127807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:127772800-127781800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:127772800-127782000	Weak transcription	NHDF-Ad	bronchial
10	chr5:127772800-127787200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:127772800-127799800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:127773000-127783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:127773000-127783800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:127773000-127785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:127773000-127788600	Weak transcription	Fetal Heart	heart
16	chr5:127773000-127809400	Weak transcription	HMEC	breast
17	chr5:127773200-127783600	Weak transcription	NH-A	brain
18	chr5:127773200-127785600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:127773400-127830000	Weak transcription	NHEK	skin
20	chr5:127776000-127785600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:127776200-127783600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:127776600-127778800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:127777000-127780200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:127777200-127782000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:127777200-127793000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:127777400-127780200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:127777400-127789000	Weak transcription	Fetal Stomach	stomach
28	chr5:127777800-127779400	Enhancers	Fetal Kidney	kidney
29	chr5:127777800-127780200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:127777800-127782000	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:127778000-127778800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:127778200-127780400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:127778200-127783000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:127778400-127778800	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:127778600-127780600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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