Variant report

Variant	rs534423986
Chromosome Location	chr8:131454927-131454928
allele	G/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	chr14:35760689..35762512-chr8:131454589..131456596,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction
ENSG00000265530	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000171222	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131444000-131455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:131447400-131455000	Weak transcription	Pancreas	Pancrea
3	chr8:131450200-131456000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:131450400-131455000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:131453400-131455000	Transcr. at gene 5' and 3'	A549	lung
6	chr8:131453600-131455000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr8:131453600-131455200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:131453800-131455000	Flanking Active TSS	NHEK	skin
9	chr8:131454000-131455000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:131454000-131455000	Flanking Active TSS	HMEC	breast
11	chr8:131454000-131455000	Flanking Active TSS	Osteobl	bone
12	chr8:131454000-131455200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr8:131454000-131455200	Weak transcription	Spleen	Spleen
14	chr8:131454000-131456000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:131454000-131456200	Active TSS	Lung	lung
16	chr8:131454000-131456600	Active TSS	Right Atrium	heart
17	chr8:131454200-131455000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:131454200-131455000	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr8:131454200-131455000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr8:131454200-131456400	Active TSS	NHLF	lung
21	chr8:131454400-131455000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:131454400-131455000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr8:131454400-131455000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr8:131454400-131455000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr8:131454400-131455000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:131454400-131455000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr8:131454400-131455000	Flanking Active TSS	Fetal Brain Female	brain
28	chr8:131454400-131455000	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr8:131454400-131455000	Bivalent Enhancer	Small Intestine	intestine
30	chr8:131454400-131455000	Flanking Active TSS	HepG2	liver
31	chr8:131454400-131455200	Flanking Active TSS	Liver	Liver
32	chr8:131454400-131455200	Active TSS	Fetal Kidney	kidney
33	chr8:131454400-131456000	Active TSS	Psoas Muscle	Psoas
34	chr8:131454400-131456200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr8:131454400-131456200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:131454400-131456200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:131454400-131456200	Active TSS	Brain Angular Gyrus	brain
38	chr8:131454400-131456400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:131454400-131456400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:131454400-131456400	Active TSS	Rectal Smooth Muscle	rectum
41	chr8:131454400-131456600	Active TSS	Fetal Muscle Trunk	muscle
42	chr8:131454400-131456600	Active TSS	Left Ventricle	heart
43	chr8:131454400-131456800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr8:131454600-131455000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr8:131454600-131455000	Flanking Active TSS	Fetal Stomach	stomach
46	chr8:131454600-131455200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr8:131454600-131455200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:131454600-131455200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:131454600-131455200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr8:131454600-131455200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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