Variant report

Variant	rs73330306
Chromosome Location	chr8:127856648-127856649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10505491	1.00[ASN][1000 genomes]
rs16901753	1.00[ASN][1000 genomes]
rs16901755	1.00[ASN][1000 genomes]
rs1826083	1.00[ASN][1000 genomes]
rs62529847	1.00[ASN][1000 genomes]
rs62529848	1.00[ASN][1000 genomes]
rs62529850	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127846600-127858200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:127846800-127857200	Weak transcription	Fetal Kidney	kidney
3	chr8:127847600-127857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:127847600-127860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:127853600-127857800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:127854400-127858200	Enhancers	Placenta	Placenta
7	chr8:127854400-127858600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:127855000-127856800	Weak transcription	HMEC	breast
9	chr8:127855000-127858200	Weak transcription	Stomach Mucosa	stomach
10	chr8:127855400-127856800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:127855600-127857000	Weak transcription	Esophagus	oesophagus
12	chr8:127855600-127857000	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:127855600-127857000	Weak transcription	HSMMtube	muscle
14	chr8:127855800-127857000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:127855800-127857000	Enhancers	NHEK	skin
16	chr8:127856000-127857800	Active TSS	Fetal Muscle Trunk	muscle
17	chr8:127856200-127857200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:127856400-127857400	Weak transcription	Adipose Nuclei	Adipose
19	chr8:127856600-127857000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:127856600-127857200	Weak transcription	Lung	lung
21	chr8:127856600-127858000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr8:127856600-127858600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:127856600-127858600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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