Variant report

Variant	nsv529044
Chromosome Location	chr12:119530488-119532430
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	chr12:119519961..119522229-chr12:119531990..119534794,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11064657	chr12:119530488-119530489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575890589	chr12:119530512-119530513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544322210	chr12:119530543-119530544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150302423	chr12:119530575-119530576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564023618	chr12:119530586-119530587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532982006	chr12:119530587-119530588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539803770	chr12:119530601-119530602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186374317	chr12:119530627-119530628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191231633	chr12:119530635-119530636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181251632	chr12:119530695-119530696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7306264	chr12:119530721-119530722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376388410	chr12:119530748-119530749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541398875	chr12:119530768-119530769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146845492	chr12:119530794-119530795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7302987	chr12:119530815-119530816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373702766	chr12:119530827-119530828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367570116	chr12:119530839-119530840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551103784	chr12:119530893-119530894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76537411	chr12:119530935-119530936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539830985	chr12:119530944-119530945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143332817	chr12:119530958-119530959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11064658	chr12:119530990-119530991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185456392	chr12:119531002-119531003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536187139	chr12:119531006-119531007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556073540	chr12:119531008-119531009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189770072	chr12:119531014-119531015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538046512	chr12:119531023-119531024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372752637	chr12:119531030-119531031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183479365	chr12:119531041-119531042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531453522	chr12:119531082-119531083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529973832	chr12:119531087-119531088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76947890	chr12:119531097-119531098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541921452	chr12:119531115-119531116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374691137	chr12:119531175-119531176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367674726	chr12:119531293-119531294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372366132	chr12:119531295-119531296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188918882	chr12:119531296-119531297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373877134	chr12:119531314-119531315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527335606	chr12:119531320-119531321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151053684	chr12:119531341-119531342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11064659	chr12:119531346-119531347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191621546	chr12:119531359-119531360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533632023	chr12:119531368-119531369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531574578	chr12:119531369-119531370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549978344	chr12:119531405-119531406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551247371	chr12:119531429-119531430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146837356	chr12:119531499-119531500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141002283	chr12:119531513-119531514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74922014	chr12:119531613-119531614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569885757	chr12:119531633-119531634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119521000-119535600	Weak transcription	Fetal Brain Female	brain
2	chr12:119521200-119537400	Weak transcription	Brain Germinal Matrix	brain
3	chr12:119528600-119532000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:119528600-119534400	Weak transcription	Right Atrium	heart
5	chr12:119528800-119531600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:119528800-119534200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:119528800-119534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:119529000-119531400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:119529000-119531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:119529000-119531800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:119529200-119534400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:119529600-119532000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:119529600-119534400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:119529800-119531400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:119530400-119531400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:119531400-119532000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:119531400-119533400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:119531400-119535800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:119531600-119532000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:119531600-119533600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:119531800-119533000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:119532000-119532400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:119532000-119532600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:119532000-119532600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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