Variant report

Variant	nsv947595
Chromosome Location	chr10:19699215-19705161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:19701065..19702056-chr10:20076746..20077511,2	MCF-7	breast:
2	chr10:19704403..19706854-chr10:20104452..20106050,2	MCF-7	breast:
3	chr10:18978169..18978867-chr10:19699824..19700403,3	MCF-7	breast:
4	chr10:19701583..19703629-chr10:19722720..19725656,2	MCF-7	breast:
5	chr10:19702800..19704977-chr10:19710060..19711569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120594	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:252 , 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	rs577310336	chr10:19699240-19699241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544894895	chr10:19699245-19699246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140822994	chr10:19699248-19699249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146709897	chr10:19699294-19699295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190881467	chr10:19699296-19699297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574990864	chr10:19699311-19699312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372416564	chr10:19699322-19699323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139261021	chr10:19699333-19699334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560712538	chr10:19699349-19699350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527418058	chr10:19699357-19699358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370152192	chr10:19699382-19699383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545484235	chr10:19699406-19699407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10827375	chr10:19699448-19699449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79593821	chr10:19699465-19699466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144104411	chr10:19699506-19699507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376694844	chr10:19699513-19699514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558498591	chr10:19699525-19699526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556868262	chr10:19699561-19699562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71497275	chr10:19699576-19699577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146509357	chr10:19699587-19699588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58147034	chr10:19699608-19699609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372103944	chr10:19699623-19699624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10827376	chr10:19699666-19699667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561807666	chr10:19699676-19699677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529166527	chr10:19699696-19699697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549314295	chr10:19699703-19699704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141091332	chr10:19699711-19699712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542381421	chr10:19699721-19699722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565874527	chr10:19699759-19699760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531084517	chr10:19699838-19699839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368907209	chr10:19699860-19699861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4573593	chr10:19699871-19699872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183074400	chr10:19699900-19699901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187421308	chr10:19699904-19699905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549984421	chr10:19699939-19699940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528520009	chr10:19699953-19699954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7068616	chr10:19699977-19699978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375998621	chr10:19699985-19699986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143201922	chr10:19700070-19700071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528458269	chr10:19700121-19700122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536128582	chr10:19700125-19700126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192840174	chr10:19700216-19700217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553984420	chr10:19700241-19700242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572300637	chr10:19700296-19700297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546679514	chr10:19700317-19700318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183365852	chr10:19700322-19700323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151244855	chr10:19700371-19700372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200798440	chr10:19700430-19700431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576010821	chr10:19700436-19700437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201802486	chr10:19700468-19700469	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
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19681000-19728200	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19695400-19739200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19696200-19705200	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19703400-19703600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr10:19703600-19704800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr10:19703600-19705400	Enhancers	Liver	Liver
7	chr10:19704000-19705000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr10:19704600-19705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:19704800-19705200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr10:19704800-19705200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:19704800-19705200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr10:19704800-19706200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:19704800-19706800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr10:19704800-19707000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:19705000-19705200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr10:19705000-19705600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links