Variant report

Variant	rs531790811
Chromosome Location	chr8:49192247-49192248
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1808901	chr8:49173411-49201882	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:49186800-49199400	Weak transcription	Right Atrium	heart
3	chr8:49187000-49192400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:49187200-49192400	Weak transcription	NHLF	lung
5	chr8:49187200-49198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:49187800-49194400	Weak transcription	Fetal Stomach	stomach
7	chr8:49189200-49194400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:49190800-49197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:49191000-49192600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:49191000-49195200	Enhancers	NHDF-Ad	bronchial
11	chr8:49191200-49197200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:49191400-49193000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:49192000-49193400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:49192000-49194800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:49192000-49194800	Enhancers	NHEK	skin
16	chr8:49192000-49195000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:49192000-49195200	Enhancers	HMEC	breast
18	chr8:49192000-49195200	Enhancers	HUVEC	blood vessel
19	chr8:49192200-49192800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:49192200-49193000	Enhancers	NH-A	brain
21	chr8:49192200-49193200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:49192200-49193200	Enhancers	Osteobl	bone
23	chr8:49192200-49194400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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