Variant report

Variant	esv3424380
Chromosome Location	chr10:6410946-6417844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6409518..6411373-chr10:6428852..6430851,2	MCF-7	breast:
2	chr10:6244747..6246248-chr10:6416212..6418956,2	MCF-7	breast:
3	chr10:6409324..6412633-chr10:6424291..6427904,3	MCF-7	breast:
4	chr10:6359485..6361355-chr10:6417386..6419861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170525	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532347920	chr10:6410980-6410981	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112649491	chr10:6410991-6410992	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184690605	chr10:6411008-6411009	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189605145	chr10:6411018-6411019	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568787955	chr10:6411043-6411044	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10906351	chr10:6411071-6411072	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537122159	chr10:6411081-6411082	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10796061	chr10:6411109-6411110	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537774343	chr10:6411121-6411122	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534280759	chr10:6411201-6411202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553631179	chr10:6411205-6411206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116332510	chr10:6411215-6411216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78805750	chr10:6411243-6411244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77521284	chr10:6411246-6411247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575359684	chr10:6411270-6411271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143198356	chr10:6411303-6411304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4750347	chr10:6411327-6411328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373443167	chr10:6411430-6411431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535225603	chr10:6411441-6411442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553907436	chr10:6411472-6411473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12259024	chr10:6411528-6411529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147497708	chr10:6411530-6411531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548432396	chr10:6411567-6411568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139371101	chr10:6411569-6411570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61841883	chr10:6411681-6411682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61841884	chr10:6411766-6411767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552584103	chr10:6411884-6411885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61841886	chr10:6411994-6411995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140687366	chr10:6412028-6412029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143334220	chr10:6412131-6412132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147526399	chr10:6412242-6412243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200755130	chr10:6412317-6412318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35069249	chr10:6412543-6412544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200753625	chr10:6413376-6413377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367689651	chr10:6414516-6414517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371932714	chr10:6414517-6414518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375206671	chr10:6414639-6414640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201048188	chr10:6414823-6414824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371833775	chr10:6415670-6415671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11258356	chr10:6415944-6415945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11258357	chr10:6415971-6415972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375217934	chr10:6415992-6415993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369701724	chr10:6416097-6416098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373472541	chr10:6416141-6416142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376839117	chr10:6416142-6416143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11258365	chr10:6416152-6416153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368924741	chr10:6416221-6416222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373159258	chr10:6416223-6416224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376382995	chr10:6416239-6416240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370724508	chr10:6416336-6416337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6407400-6422000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:6409200-6411600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:6410200-6411000	Enhancers	Right Atrium	heart
4	chr10:6410600-6411000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:6410600-6411000	Active TSS	Stomach Smooth Muscle	stomach
6	chr10:6410600-6411200	Active TSS	Muscle Satellite Cultured Cells	--
7	chr10:6410600-6421000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr10:6410800-6411000	Enhancers	Aorta	Aorta
9	chr10:6410800-6411200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:6411000-6423800	Weak transcription	Aorta	Aorta
11	chr10:6417400-6421400	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:6417800-6418000	Bivalent Enhancer	Primary B cells from cord blood	blood

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