Variant report

Variant	rs575016133
Chromosome Location	chr8:49086484-49086485
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	nsv611307	chr8:49081709-49093889	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3447347	chr8:49086458-49087079	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49082400-49086600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:49082600-49088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49084400-49090600	Enhancers	Fetal Stomach	stomach
4	chr8:49084600-49086800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:49084800-49088000	Weak transcription	Osteobl	bone
6	chr8:49085200-49087200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:49085200-49087400	Weak transcription	Liver	Liver
8	chr8:49085200-49087600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:49085200-49087800	Weak transcription	Stomach Mucosa	stomach
10	chr8:49085200-49087800	Weak transcription	NHEK	skin
11	chr8:49085200-49088000	Weak transcription	Adipose Nuclei	Adipose
12	chr8:49085200-49088200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:49085200-49088200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:49085200-49088200	Weak transcription	HepG2	liver
15	chr8:49085200-49098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:49085400-49086600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:49085600-49086600	Enhancers	Fetal Brain Male	brain
18	chr8:49085600-49087400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:49085600-49088200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:49085800-49087800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:49086400-49086600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:49086400-49086800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr8:49086400-49086800	Enhancers	Brain Anterior Caudate	brain
24	chr8:49086400-49086800	ZNF genes & repeats	Fetal Kidney	kidney
25	chr8:49086400-49086800	Flanking Active TSS	Fetal Lung	lung
26	chr8:49086400-49088800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:49086400-49089000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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