Variant report

Variant	rs553041273
Chromosome Location	chr8:49194732-49194733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3325574	chr8:49194699-49198997	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

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	chr8:49187200-49198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:49190800-49197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:49191000-49195200	Enhancers	NHDF-Ad	bronchial
6	chr8:49191200-49197200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:49192000-49194800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:49192000-49194800	Enhancers	NHEK	skin
9	chr8:49192000-49195000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:49192000-49195200	Enhancers	HMEC	breast
11	chr8:49192000-49195200	Enhancers	HUVEC	blood vessel
12	chr8:49192400-49197000	Enhancers	NHLF	lung
13	chr8:49193200-49196400	Weak transcription	Osteobl	bone
14	chr8:49193400-49194800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:49193400-49196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:49194000-49195000	Enhancers	Fetal Lung	lung
17	chr8:49194000-49195000	Enhancers	NH-A	brain
18	chr8:49194200-49195600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:49194400-49194800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:49194400-49196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:49194400-49197000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:49194600-49194800	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:49194600-49195000	Weak transcription	Fetal Stomach	stomach

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