Variant report

Variant	nsv519601
Chromosome Location	chr7:13819968-13857235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57922547..57924821-chr7:13833856..13835517,2	MCF-7	breast:

Extended variants
information (count: 1328 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1328 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17676205	chr7:13819968-13819969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540449924	chr7:13819980-13819981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564579433	chr7:13819986-13819987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140951304	chr7:13820000-13820001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561076705	chr7:13820020-13820021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573295493	chr7:13820051-13820052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545161661	chr7:13820073-13820074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530870640	chr7:13820088-13820089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565327724	chr7:13820107-13820108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530788657	chr7:13820118-13820119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551288698	chr7:13820125-13820126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2190316	chr7:13820128-13820129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530299913	chr7:13820192-13820193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189977147	chr7:13820199-13820200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143105708	chr7:13820238-13820239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151197334	chr7:13820246-13820247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551985393	chr7:13820324-13820325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568865178	chr7:13820337-13820338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540325089	chr7:13820376-13820377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554571292	chr7:13820407-13820408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574806734	chr7:13820409-13820410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543698804	chr7:13820436-13820437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34230966	chr7:13820490-13820491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534033806	chr7:13820491-13820492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35666838	chr7:13820496-13820497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576958520	chr7:13820571-13820572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73679186	chr7:13820574-13820575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558766277	chr7:13820591-13820592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547867112	chr7:13820633-13820634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182275886	chr7:13820659-13820660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544218846	chr7:13820676-13820677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560900496	chr7:13820703-13820704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561367566	chr7:13820746-13820747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17167514	chr7:13820854-13820855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547676050	chr7:13820875-13820876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71859867	chr7:13820876-13820877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540517878	chr7:13820881-13820882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61331460	chr7:13820884-13820885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7803703	chr7:13820899-13820900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560787597	chr7:13820919-13820920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7803718	chr7:13820920-13820921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35625452	chr7:13820921-13820922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397767546	chr7:13820923-13820924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10586533	chr7:13820926-13820927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539716668	chr7:13820952-13820953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140367989	chr7:13820974-13820975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2108153	chr7:13820978-13820979	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568875692	chr7:13821067-13821068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186471211	chr7:13821075-13821076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193263347	chr7:13821078-13821079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13808400-13820200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:13813200-13824200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:13818800-13824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:13819000-13820600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:13820000-13821800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:13820200-13820400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:13820200-13820600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:13820400-13820800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:13820800-13822000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:13821200-13822000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:13821400-13821800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:13821400-13821800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:13821800-13840400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:13822000-13824200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:13824200-13824400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:13824200-13824800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:13824600-13824800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:13830400-13830800	Enhancers	Osteobl	bone
19	chr7:13830800-13833600	Weak transcription	Osteobl	bone
20	chr7:13833600-13834000	Enhancers	Osteobl	bone
21	chr7:13833600-13836800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:13835800-13836000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:13835800-13836000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:13836000-13836800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:13836000-13837000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:13836800-13837200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:13836800-13837600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:13836800-13837600	Enhancers	HUVEC	blood vessel
29	chr7:13836800-13837800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:13836800-13838000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:13837000-13837400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:13837000-13837800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:13837000-13837800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:13837000-13837800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:13837000-13837800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:13837000-13837800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:13837000-13838000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:13837200-13837600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr7:13837200-13837800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:13837400-13840600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:13837600-13840400	Weak transcription	HUVEC	blood vessel
42	chr7:13837600-13845000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:13837800-13840400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:13837800-13840600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:13837800-13840600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:13837800-13840600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:13837800-13840600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:13837800-13840800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:13838000-13839600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:13838000-13840200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links