Variant report

Variant	nsv25193
Chromosome Location	chr10:482622-482681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:482621-482626	MCF-7	breast:	n/a	n/a
2	CTCF	chr10:482480-482630	MCF-7	breast:	n/a	n/a
3	EGR1	chr10:482133-482775	HCT-116	colon:	n/a	n/a
4	ESR1	chr10:481955-482655	T-47D	breast:	n/a	chr10:482295-482312
5	GATA3	chr10:481946-482627	MCF-7	breast:	n/a	n/a
6	MAX	chr10:481761-482725	MCF-7	breast:	n/a	n/a
7	MAX	chr10:481947-482755	MCF-7	breast:	n/a	n/a
8	MYC	chr10:482001-483576	MCF-7	breast:	n/a	n/a
9	MYC	chr10:482010-482795	MCF-7	breast:	n/a	n/a
10	POLR2A	chr10:482040-482741	MCF-7	breast:	n/a	n/a
11	POLR2A	chr10:482072-482643	MCF-7	breast:	n/a	n/a
12	POLR2A	chr10:481971-483066	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:407263..407805-chr10:482123..482764,2	MCF-7	breast:
2	chr10:481834..483377-chr10:502527..504789,2	MCF-7	breast:
3	chr10:474030..477219-chr10:480752..483760,5	MCF-7	breast:
4	chr10:461634..462240-chr10:481924..482823,2	MCF-7	breast:
5	chr10:450799..453680-chr10:480575..483479,3	MCF-7	breast:
6	chr10:417156..419779-chr10:480813..483517,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233021	TF binding region
ENSG00000239822	chromatin interactions
ENSG00000151240	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7899984	chr10:482630-482631	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs575052426	chr10:482632-482633	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs537763526	chr10:482636-482637	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs554820060	chr10:482643-482644	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574377654	chr10:482647-482648	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs117640911	chr10:482656-482657	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560031006	chr10:482664-482665	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs577009551	chr10:482671-482672	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs7903876	chr10:482678-482679	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549265749	chr10:482681-482682	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:395800-489400	Weak transcription	Stomach Mucosa	stomach
2	chr10:436600-521200	Weak transcription	HepG2	liver
3	chr10:443400-497000	Weak transcription	Psoas Muscle	Psoas
4	chr10:445800-498400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:453400-485600	Weak transcription	Fetal Kidney	kidney
6	chr10:456000-496600	Weak transcription	Fetal Heart	heart
7	chr10:456200-483200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:463600-489600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:465200-483200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:465400-490200	Weak transcription	Brain Substantia Nigra	brain
11	chr10:466200-484600	Weak transcription	Liver	Liver
12	chr10:466200-486000	Weak transcription	Brain Angular Gyrus	brain
13	chr10:466200-500000	Weak transcription	NHDF-Ad	bronchial
14	chr10:466400-497200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:467000-485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:467600-486200	Weak transcription	Osteobl	bone
17	chr10:467600-496600	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:468800-485000	Weak transcription	Brain Anterior Caudate	brain
19	chr10:468800-485200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:468800-490000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:468800-496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:469000-483200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:469000-484600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr10:469000-484800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr10:469200-483000	Weak transcription	Pancreas	Pancrea
26	chr10:469600-483600	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:469600-496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:469800-484800	Weak transcription	Left Ventricle	heart
29	chr10:469800-496600	Weak transcription	Adipose Nuclei	Adipose
30	chr10:470800-485000	Weak transcription	Aorta	Aorta
31	chr10:471600-485200	Weak transcription	NH-A	brain
32	chr10:472200-483000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:474800-495000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:476400-487200	Weak transcription	Gastric	stomach
35	chr10:476800-500000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:478200-483000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:478400-483000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:478400-487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr10:479200-485800	Strong transcription	Fetal Stomach	stomach
40	chr10:479200-486000	Strong transcription	Fetal Intestine Small	intestine
41	chr10:479800-503600	Weak transcription	NHLF	lung
42	chr10:480000-484600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr10:480000-485800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:480200-484000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr10:480200-484800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr10:480200-484800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr10:480200-485000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr10:480200-485000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr10:480200-485400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:480400-484800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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