Variant report

Variant	rs139091013
Chromosome Location	chr8:125575585-125575586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
2	chr8:125572673..125575871-chr8:125577015..125582400,6	K562	blood:
3	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
4	chr8:125573757..125577202-chr8:125578987..125583404,3	MCF-7	breast:
5	chr8:125575430..125576994-chr8:125827635..125829466,2	K562	blood:
6	chr8:125569223..125571926-chr8:125574045..125576529,2	K562	blood:
7	chr8:125486165..125488789-chr8:125574025..125577553,3	MCF-7	breast:
8	chr8:125572972..125577628-chr8:125578200..125582090,6	MCF-7	breast:
9	chr8:125574370..125578079-chr8:125630160..125632086,3	MCF-7	breast:
10	chr8:125567601..125570100-chr8:125573465..125576752,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv465801	chr8:125565328-125576681	Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv612145	chr8:125565328-125576681	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv465802	chr8:125570144-125576681	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv612146	chr8:125570144-125576681	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv971700	chr8:125575569-125576444	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
2	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
4	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
5	chr8:125556800-125576800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:125558000-125575600	Weak transcription	Stomach Mucosa	stomach
7	chr8:125561400-125575600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:125563600-125575600	Strong transcription	Fetal Stomach	stomach
9	chr8:125564000-125575600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:125564400-125576800	Strong transcription	Fetal Intestine Small	intestine
11	chr8:125566000-125576400	Weak transcription	GM12878-XiMat	blood
12	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
13	chr8:125566200-125575800	Weak transcription	NHDF-Ad	bronchial
14	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:125566400-125575800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:125566400-125575800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:125566400-125577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:125566400-125577800	Weak transcription	Small Intestine	intestine
19	chr8:125566400-125600600	Weak transcription	NHEK	skin
20	chr8:125566600-125576400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:125566600-125577200	Weak transcription	Osteobl	bone
22	chr8:125566800-125581400	Weak transcription	HSMM	muscle
23	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
24	chr8:125567200-125576200	Weak transcription	Fetal Heart	heart
25	chr8:125568200-125575600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:125568200-125577000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:125568400-125575800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:125568600-125576400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:125568800-125575600	Weak transcription	Ovary	ovary
30	chr8:125568800-125576400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:125570000-125584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:125570800-125575600	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:125571400-125575600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:125571800-125581200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:125572000-125577000	Weak transcription	NHLF	lung
37	chr8:125572400-125575800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:125572400-125575800	Weak transcription	Brain Substantia Nigra	brain
39	chr8:125572400-125576400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:125573400-125575800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:125573800-125575600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:125573800-125575800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:125574000-125575600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr8:125574000-125575600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:125574000-125575600	Strong transcription	Brain Anterior Caudate	brain
46	chr8:125574200-125575600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:125574200-125575600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:125574200-125575600	Genic enhancers	Fetal Kidney	kidney
49	chr8:125574200-125576000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:125574200-125576000	Weak transcription	Colonic Mucosa	Colon

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