Variant report

Variant	nsv522191
Chromosome Location	chr10:28329684-28337278
allele	n/a
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:28332388..28334708-chr10:28335974..28338490,2	K562	blood:
2	chr10:28332388..28334708-chr10:28335974..28338490,2	K562	blood:
3	chr10:28329005..28330814-chr10:28337139..28340091,2	K562	blood:
4	chr10:28329005..28330814-chr10:28337139..28340091,2	K562	blood:
5	chr10:28310448..28312369-chr10:28329135..28331454,2	K562	blood:
6	chr10:28317069..28320040-chr10:28334616..28337378,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB18-2	chr10:28332853-28332885	ENSG00000233472.1

No data

Extended variants
information (count: 285 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117562221	chr10:28330004-28330005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75392606	chr10:28330040-28330041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141601511	chr10:28330041-28330042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150906012	chr10:28330044-28330045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370803664	chr10:28330045-28330046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567584733	chr10:28330085-28330086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538136213	chr10:28330086-28330087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550336564	chr10:28330092-28330093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568834357	chr10:28330126-28330127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35249041	chr10:28330136-28330137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35466243	chr10:28330176-28330177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188774648	chr10:28330227-28330228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557784803	chr10:28330245-28330246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546329972	chr10:28330310-28330311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138304592	chr10:28330332-28330333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193197687	chr10:28330352-28330353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535663246	chr10:28330382-28330383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559826926	chr10:28330403-28330404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549564523	chr10:28330422-28330423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577926385	chr10:28330429-28330430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545176175	chr10:28330433-28330434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142974276	chr10:28330472-28330473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561230067	chr10:28330521-28330522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528998145	chr10:28330522-28330523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548568317	chr10:28330541-28330542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368431179	chr10:28330551-28330552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199598672	chr10:28330586-28330587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2243402	chr10:28330642-28330643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185110336	chr10:28330670-28330671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531930580	chr10:28330709-28330710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568543260	chr10:28330774-28330775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189959594	chr10:28330824-28330825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568761456	chr10:28330862-28330863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532911572	chr10:28330864-28330865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192751484	chr10:28330879-28330880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183861332	chr10:28330919-28330920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533849952	chr10:28330927-28330928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555647068	chr10:28330933-28330934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146114997	chr10:28330934-28330935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537758875	chr10:28330953-28330954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369958561	chr10:28330983-28330984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577977712	chr10:28331026-28331027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188163350	chr10:28331050-28331051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553865195	chr10:28331065-28331066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572238118	chr10:28331102-28331103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2368289	chr10:28331147-28331148	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561188514	chr10:28331166-28331167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11598518	chr10:28331182-28331183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556961248	chr10:28331245-28331246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139236790	chr10:28331302-28331303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28330000-28345000	Weak transcription	Pancreas	Pancrea
2	chr10:28330800-28331200	Enhancers	Aorta	Aorta
3	chr10:28330800-28331200	Enhancers	Fetal Muscle Leg	muscle
4	chr10:28331200-28331400	Enhancers	HSMMtube	muscle
5	chr10:28331200-28345000	Weak transcription	Aorta	Aorta
6	chr10:28331400-28335400	Weak transcription	HSMMtube	muscle
7	chr10:28331800-28332800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr10:28333800-28334000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr10:28333800-28334200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr10:28334000-28334800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr10:28334000-28335400	Weak transcription	Fetal Stomach	stomach
12	chr10:28334200-28341200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr10:28334800-28335400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:28334800-28341800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:28335000-28345800	Weak transcription	Brain Angular Gyrus	brain
16	chr10:28335400-28335600	Enhancers	Fetal Stomach	stomach
17	chr10:28335400-28335600	Enhancers	HSMMtube	muscle
18	chr10:28335400-28336400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:28335400-28336600	Enhancers	Osteobl	bone
20	chr10:28335600-28336200	Weak transcription	HSMMtube	muscle
21	chr10:28335600-28345000	Weak transcription	Fetal Stomach	stomach
22	chr10:28335800-28336400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr10:28336200-28336400	Enhancers	HSMMtube	muscle
24	chr10:28336200-28349400	Weak transcription	Gastric	stomach
25	chr10:28336400-28336600	Weak transcription	HSMMtube	muscle
26	chr10:28336400-28337000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:28336400-28346000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr10:28336600-28345600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:28336800-28346600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr10:28337000-28339400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr10:28337200-28339400	Weak transcription	Primary T cells from cord blood	blood

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