Variant report

Variant	nsv980048
Chromosome Location	chr3:16995372-17016178
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	chr3:16999677..17001737-chr3:17018977..17021137,2	K562	blood:
2	chr3:16989510..16991310-chr3:16993095..16995691,2	K562	blood:

Extended variants
information (count: 815 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73146993	chr3:16995411-16995412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114353008	chr3:16995438-16995439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183043316	chr3:16995450-16995451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149062091	chr3:16995451-16995452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536297851	chr3:16995459-16995460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75957926	chr3:16995475-16995476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572472766	chr3:16995496-16995497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374134409	chr3:16995502-16995503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544590001	chr3:16995505-16995506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573300110	chr3:16995508-16995509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376678271	chr3:16995551-16995552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542237703	chr3:16995566-16995567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4685406	chr3:16995594-16995595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148206281	chr3:16995639-16995640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575490919	chr3:16995654-16995655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186301788	chr3:16995666-16995667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561099425	chr3:16995672-16995673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529373579	chr3:16995677-16995678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189794449	chr3:16995708-16995709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559868381	chr3:16995739-16995740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4685407	chr3:16995758-16995759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551794066	chr3:16995764-16995765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571884948	chr3:16995778-16995779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531194341	chr3:16995787-16995788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145143749	chr3:16995819-16995820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567818133	chr3:16995833-16995834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535958847	chr3:16995839-16995840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57099038	chr3:16995845-16995846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566208569	chr3:16995859-16995860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35452450	chr3:16995875-16995876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538294112	chr3:16995907-16995908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376865942	chr3:16995917-16995918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369100005	chr3:16995931-16995932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575460782	chr3:16995966-16995967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530983065	chr3:16995968-16995969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544450105	chr3:16995981-16995982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374188514	chr3:16995997-16995998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554491983	chr3:16996012-16996013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574608154	chr3:16996031-16996032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4685408	chr3:16996035-16996036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559930443	chr3:16996058-16996059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528584065	chr3:16996064-16996065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545429183	chr3:16996080-16996081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369702771	chr3:16996089-16996090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565236424	chr3:16996142-16996143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531131214	chr3:16996154-16996155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551219430	chr3:16996179-16996180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567849230	chr3:16996201-16996202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373540775	chr3:16996246-16996247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186603308	chr3:16996273-16996274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:16984200-17003400	Weak transcription	Spleen	Spleen
2	chr3:16985000-17003400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:16985600-17000400	Weak transcription	Primary T cells from cord blood	blood
4	chr3:16986600-17000400	Weak transcription	Left Ventricle	heart
5	chr3:16986800-17003000	Weak transcription	Ovary	ovary
6	chr3:16987400-17005000	Weak transcription	Primary B cells from cord blood	blood
7	chr3:16987400-17015600	Weak transcription	Aorta	Aorta
8	chr3:16993400-16999600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:16993400-17003400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:16993400-17005200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:16993600-16999600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:16993800-17000200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:16993800-17002200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:16999400-17003000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:16999600-17000000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr3:16999600-17001200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr3:17000000-17002800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:17000200-17000600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr3:17000200-17000800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr3:17000400-17000600	Enhancers	Pancreas	Pancrea
21	chr3:17000400-17000600	Enhancers	Psoas Muscle	Psoas
22	chr3:17000400-17000600	Enhancers	Right Atrium	heart
23	chr3:17000400-17000800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr3:17000400-17001200	Enhancers	Fetal Heart	heart
25	chr3:17000400-17001400	Strong transcription	Primary T cells from cord blood	blood
26	chr3:17000400-17002000	Enhancers	Left Ventricle	heart
27	chr3:17000600-17000800	Enhancers	Right Ventricle	heart
28	chr3:17000600-17002200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:17000600-17003000	Weak transcription	Pancreas	Pancrea
30	chr3:17000600-17003000	Weak transcription	Psoas Muscle	Psoas
31	chr3:17000600-17003000	Weak transcription	Right Atrium	heart
32	chr3:17000600-17008400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:17000800-17002800	Weak transcription	Right Ventricle	heart
34	chr3:17000800-17003000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:17001200-17001600	Weak transcription	Fetal Heart	heart
36	chr3:17001200-17002800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:17001400-17008400	Weak transcription	Primary T cells from cord blood	blood
38	chr3:17001600-17003600	Enhancers	Fetal Heart	heart
39	chr3:17001800-17002000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:17001800-17002200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:17001800-17002200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr3:17001800-17002200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr3:17001800-17002200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:17001800-17003800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr3:17002000-17003000	Weak transcription	Left Ventricle	heart
46	chr3:17002200-17002600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:17002200-17002600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:17002200-17002600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:17002200-17002600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:17002200-17003200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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