Variant report

Variant	nsv1003301
Chromosome Location	chr2:179934190-179963263
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	chr2:179962282..179964737-chr2:179968470..179970797,2	MCF-7	breast:

Extended variants
information (count: 864 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534978758	chr2:179934267-179934268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558185662	chr2:179934269-179934270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7579263	chr2:179934274-179934275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34443218	chr2:179934286-179934287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537277642	chr2:179934366-179934367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78807548	chr2:179934414-179934415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377066924	chr2:179934494-179934495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs137943125	chr2:179934515-179934516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11893153	chr2:179934543-179934544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200889924	chr2:179934558-179934559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11903793	chr2:179934583-179934584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187162387	chr2:179934608-179934609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11883598	chr2:179934609-179934610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564245129	chr2:179934611-179934612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11883599	chr2:179934613-179934614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372940870	chr2:179934614-179934615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543674218	chr2:179934635-179934636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563460760	chr2:179934636-179934637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190600526	chr2:179934644-179934645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6732629	chr2:179934663-179934664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs181367106	chr2:179934702-179934703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61396516	chr2:179934703-179934704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551733617	chr2:179934711-179934712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552381039	chr2:179934720-179934721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113423400	chr2:179934745-179934746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537741406	chr2:179934753-179934754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557179114	chr2:179934757-179934758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112240802	chr2:179934765-179934766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs340350	chr2:179934792-179934793	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79991179	chr2:179934808-179934809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534152303	chr2:179934819-179934820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114475348	chr2:179934827-179934828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572077353	chr2:179934888-179934889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540697867	chr2:179934916-179934917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185590886	chr2:179934933-179934934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577897145	chr2:179934949-179934950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543734615	chr2:179934979-179934980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189906541	chr2:179935012-179935013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529107496	chr2:179935040-179935041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182118934	chr2:179935061-179935062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559622932	chr2:179935067-179935068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115554242	chr2:179935071-179935072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201362554	chr2:179935084-179935085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551525441	chr2:179935096-179935097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10497531	chr2:179935124-179935125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376165742	chr2:179935128-179935129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10497532	chr2:179935156-179935157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150541817	chr2:179935162-179935163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111632872	chr2:179935174-179935175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188780760	chr2:179935195-179935196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179932000-179937000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:179933400-179934200	Enhancers	Fetal Heart	heart
3	chr2:179933800-179934600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:179933800-179934600	Enhancers	Gastric	stomach
5	chr2:179933800-179934600	Enhancers	HepG2	liver
6	chr2:179933800-179934800	Enhancers	Left Ventricle	heart
7	chr2:179934800-179942800	Weak transcription	Left Ventricle	heart
8	chr2:179935400-179936800	Weak transcription	Small Intestine	intestine
9	chr2:179935600-179936000	Enhancers	Fetal Muscle Leg	muscle
10	chr2:179935600-179937800	Enhancers	Dnd41	blood
11	chr2:179935600-179938200	Enhancers	Fetal Thymus	thymus
12	chr2:179936600-179937000	Enhancers	Primary T cells from cord blood	blood
13	chr2:179936600-179937200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:179936600-179938600	Enhancers	Thymus	Thymus
15	chr2:179936800-179937000	Enhancers	Small Intestine	intestine
16	chr2:179936800-179937200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:179937000-179937200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:179937200-179947600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:179937800-179938800	ZNF genes & repeats	Dnd41	blood
20	chr2:179939200-179939400	Enhancers	Thymus	Thymus
21	chr2:179947000-179948000	Enhancers	HepG2	liver
22	chr2:179947200-179947400	Enhancers	Pancreas	Pancrea
23	chr2:179947600-179947800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:179947800-179948000	Enhancers	Fetal Heart	heart
25	chr2:179950000-179950800	Enhancers	Fetal Heart	heart
26	chr2:179959800-179963000	Enhancers	Primary B cells from cord blood	blood
27	chr2:179960000-179962000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:179960000-179962800	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:179960200-179961400	Enhancers	Thymus	Thymus
30	chr2:179960200-179961800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:179960400-179960600	Enhancers	GM12878-XiMat	blood
32	chr2:179960400-179961600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:179960400-179961600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:179960400-179961600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:179960400-179961800	Enhancers	Primary T cells from cord blood	blood
36	chr2:179960400-179961800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:179960400-179962000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:179960600-179960800	Enhancers	HMEC	breast
39	chr2:179960600-179961200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr2:179960600-179961200	Enhancers	Dnd41	blood
41	chr2:179960600-179961200	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:179960600-179961400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:179960600-179961600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:179960600-179961600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr2:179960600-179961600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:179960600-179961800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:179960600-179962000	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:179960600-179962000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:179960600-179962000	Enhancers	Fetal Thymus	thymus
50	chr2:179960800-179961000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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