Variant report

Variant	rs193180599
Chromosome Location	chr8:131439586-131439587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131436507..131441847-chr8:131454010..131456873,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	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	esv3321933	chr8:131438670-131443068	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3324025	chr8:131439370-131443168	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
2	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
4	chr8:131429200-131444800	Weak transcription	HSMMtube	muscle
5	chr8:131429400-131440200	Weak transcription	Pancreas	Pancrea
6	chr8:131429400-131442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:131429400-131447200	Weak transcription	Gastric	stomach
8	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:131431600-131442600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:131432000-131445000	Weak transcription	Psoas Muscle	Psoas
12	chr8:131432200-131439800	Weak transcription	NHDF-Ad	bronchial
13	chr8:131432200-131449400	Weak transcription	Ovary	ovary
14	chr8:131432400-131441600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:131432400-131441600	Weak transcription	Osteobl	bone
16	chr8:131432400-131442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:131433800-131440800	Weak transcription	Right Ventricle	heart
18	chr8:131434000-131443000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:131434200-131443000	Weak transcription	Brain Substantia Nigra	brain
20	chr8:131434600-131441600	Weak transcription	Hela-S3	cervix
21	chr8:131434600-131447000	Weak transcription	HSMM	muscle
22	chr8:131434600-131447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:131434800-131442000	Weak transcription	Fetal Stomach	stomach
24	chr8:131434800-131442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:131434800-131453000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:131435000-131441400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:131435000-131446600	Weak transcription	NH-A	brain
28	chr8:131435200-131440800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:131435200-131441400	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:131435200-131442000	Weak transcription	HUVEC	blood vessel
31	chr8:131435200-131442200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:131435200-131442200	Weak transcription	Left Ventricle	heart
33	chr8:131435200-131443400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:131435800-131439800	Weak transcription	HMEC	breast
35	chr8:131435800-131441000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:131435800-131441600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:131435800-131443200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:131437000-131440000	Weak transcription	Lung	lung
39	chr8:131437000-131440600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:131437000-131441200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:131437000-131442600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:131437000-131449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:131437000-131449800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:131437800-131443400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:131438000-131440800	Genic enhancers	A549	lung
46	chr8:131438000-131441800	Strong transcription	NHEK	skin
47	chr8:131438200-131440400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:131438200-131443600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:131438200-131451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:131438400-131442000	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links