Variant report

Variant	nsv5999
Chromosome Location	chr10:19163832-19199133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:19174898..19176889-chr10:19178609..19181209,2	K562	blood:
2	chr10:19154214..19156674-chr10:19169386..19171597,2	MCF-7	breast:
3	chr10:19174898..19176889-chr10:19178609..19181209,2	K562	blood:

Extended variants
information (count: 373 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150161137	chr10:19163898-19163899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567781295	chr10:19163910-19163911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73609462	chr10:19163942-19163943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553648255	chr10:19163943-19163944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138665300	chr10:19163973-19163974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539192919	chr10:19164000-19164001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76687974	chr10:19164005-19164006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113305463	chr10:19164032-19164033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575818119	chr10:19164109-19164110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542632103	chr10:19164190-19164191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560715603	chr10:19164191-19164192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376767519	chr10:19164214-19164215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189786483	chr10:19164219-19164220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182144187	chr10:19164236-19164237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564599601	chr10:19164316-19164317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532192973	chr10:19164317-19164318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187977307	chr10:19164351-19164352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371148881	chr10:19164376-19164377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190843264	chr10:19164434-19164435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529931300	chr10:19164447-19164448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183708665	chr10:19164467-19164468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567548256	chr10:19164492-19164493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534968634	chr10:19164517-19164518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188333889	chr10:19164528-19164529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149340714	chr10:19164554-19164555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193001684	chr10:19164559-19164560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184650287	chr10:19164651-19164652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557564705	chr10:19164728-19164729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144689222	chr10:19164775-19164776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547829162	chr10:19164784-19164785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536544266	chr10:19164813-19164814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374455485	chr10:19164833-19164834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572761428	chr10:19164843-19164844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539809289	chr10:19164887-19164888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187991683	chr10:19164973-19164974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79464759	chr10:19164978-19164979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191380683	chr10:19164980-19164981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562333200	chr10:19164993-19164994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530050846	chr10:19165014-19165015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113790076	chr10:19165024-19165025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560353007	chr10:19165033-19165034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559496046	chr10:19165090-19165091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138346872	chr10:19165104-19165105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183473276	chr10:19165110-19165111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189369970	chr10:19165131-19165132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143920095	chr10:19165139-19165140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551246620	chr10:19165156-19165157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11007446	chr10:19165190-19165191	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145078922	chr10:19165213-19165214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573720736	chr10:19165295-19165296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19163600-19165200	Enhancers	Hela-S3	cervix
2	chr10:19164200-19165000	Enhancers	Small Intestine	intestine
3	chr10:19164200-19169400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:19167200-19168800	Enhancers	Fetal Intestine Large	intestine
5	chr10:19168000-19168800	Enhancers	Fetal Intestine Small	intestine
6	chr10:19168000-19169000	Enhancers	Duodenum Mucosa	Duodenum
7	chr10:19169000-19170200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:19169200-19170200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr10:19169200-19170200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:19169200-19170200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:19169400-19169800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:19169400-19170000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr10:19169400-19170000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:19169400-19170000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:19169400-19170000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr10:19169400-19170000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:19169400-19170200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr10:19169400-19170200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr10:19169600-19170000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr10:19169800-19170200	Active TSS	A549	lung
21	chr10:19174600-19175800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:19174800-19175200	Enhancers	Fetal Intestine Small	intestine
23	chr10:19174800-19175200	Enhancers	Hela-S3	cervix
24	chr10:19174800-19175600	Enhancers	NH-A	brain
25	chr10:19174800-19175800	Enhancers	Duodenum Mucosa	Duodenum
26	chr10:19181000-19181800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:19195200-19196200	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links