Variant report

Variant	rs534853216
Chromosome Location	chr8:131455755-131455756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131436507..131441847-chr8:131454010..131456873,7	MCF-7	breast:
2	chr20:34541993..34542981-chr8:131454902..131455891,2	Hela-S3	cervix:
3	chr2:38977967..38978621-chr8:131455533..131456172,2	Hela-S3	cervix:
4	chr14:35760689..35762512-chr8:131454589..131456596,2	MCF-7	breast:
5	chr7:151216408..151216997-chr8:131455189..131455851,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000265530	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000171222	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000153317	Chromatin interaction
ENSG00000106615	Chromatin interaction

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3423192	chr8:131454795-131457643	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3408589	chr8:131454820-131456918	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131450200-131456000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:131454000-131456000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
3	chr8:131454000-131456200	Active TSS	Lung	lung
4	chr8:131454000-131456600	Active TSS	Right Atrium	heart
5	chr8:131454200-131456400	Active TSS	NHLF	lung
6	chr8:131454400-131456000	Active TSS	Psoas Muscle	Psoas
7	chr8:131454400-131456200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:131454400-131456200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:131454400-131456200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:131454400-131456200	Active TSS	Brain Angular Gyrus	brain
11	chr8:131454400-131456400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:131454400-131456400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:131454400-131456400	Active TSS	Rectal Smooth Muscle	rectum
14	chr8:131454400-131456600	Active TSS	Fetal Muscle Trunk	muscle
15	chr8:131454400-131456600	Active TSS	Left Ventricle	heart
16	chr8:131454400-131456800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr8:131454600-131455800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:131454600-131456000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:131454600-131456000	Active TSS	Brain Cingulate Gyrus	brain
20	chr8:131454600-131456000	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:131454600-131456200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr8:131454600-131456200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:131454600-131456200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:131454600-131456200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:131454600-131456200	Active TSS	HSMM	muscle
26	chr8:131454600-131456400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr8:131454600-131456400	Active TSS	Ovary	ovary
28	chr8:131454600-131456600	Active TSS	Right Ventricle	heart
29	chr8:131454600-131457200	Bivalent/Poised TSS	Thymus	Thymus
30	chr8:131454800-131456000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:131454800-131456000	Active TSS	Stomach Smooth Muscle	stomach
32	chr8:131454800-131456200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:131454800-131456200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:131454800-131456200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:131454800-131456200	Active TSS	Aorta	Aorta
36	chr8:131454800-131456200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:131454800-131456200	Active TSS	Colon Smooth Muscle	Colon
38	chr8:131454800-131456200	Active TSS	Esophagus	oesophagus
39	chr8:131454800-131456200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr8:131454800-131456200	Active TSS	Gastric	stomach
41	chr8:131454800-131456200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr8:131454800-131456200	Active TSS	Hela-S3	cervix
43	chr8:131454800-131456200	Active TSS	HSMMtube	muscle
44	chr8:131454800-131456200	Active TSS	HUVEC	blood vessel
45	chr8:131454800-131456200	Active TSS	NHDF-Ad	bronchial
46	chr8:131454800-131456400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:131454800-131456600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:131454800-131456600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:131454800-131456600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:131455000-131456000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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