Variant report

Variant	rs376641349
Chromosome Location	chr8:54856839-54856840
allele	C/T
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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' 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
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS 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
6	esv1833796	chr8:54855680-54866491	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54845000-54857600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:54850000-54857400	Weak transcription	Brain Anterior Caudate	brain
3	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
4	chr8:54852200-54872600	Weak transcription	Fetal Brain Female	brain
5	chr8:54852400-54872600	Weak transcription	Esophagus	oesophagus
6	chr8:54853400-54857600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:54853600-54857600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:54853800-54857800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:54853800-54857800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:54853800-54869000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:54854600-54859200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:54855000-54857200	Enhancers	GM12878-XiMat	blood
13	chr8:54855000-54858000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:54855200-54857400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:54855200-54858400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:54855400-54857800	Enhancers	HMEC	breast
17	chr8:54855600-54857400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:54855600-54857600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:54855600-54857800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:54855600-54857800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:54855800-54857400	Enhancers	NH-A	brain
22	chr8:54855800-54858400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:54856000-54857200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:54856000-54857200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:54856000-54857600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:54856000-54857800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:54856000-54857800	Enhancers	Osteobl	bone
28	chr8:54856200-54857200	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:54856200-54857400	Enhancers	Hela-S3	cervix
30	chr8:54856200-54857800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:54856200-54857800	Enhancers	NHDF-Ad	bronchial
32	chr8:54856200-54857800	Enhancers	NHEK	skin
33	chr8:54856200-54857800	Enhancers	NHLF	lung
34	chr8:54856400-54857200	Enhancers	A549	lung
35	chr8:54856400-54857400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:54856400-54857400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:54856400-54857400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:54856400-54857400	Weak transcription	HSMMtube	muscle
39	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:54856600-54857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:54856600-54857000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:54856600-54857000	Weak transcription	HSMM	muscle
43	chr8:54856600-54857800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:54856800-54857000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:54856800-54857000	Enhancers	Aorta	Aorta
46	chr8:54856800-54857200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:54856800-54857200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:54856800-54857200	Enhancers	K562	blood
49	chr8:54856800-54857400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:54856800-54857400	Enhancers	HUVEC	blood vessel

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