Variant report

Variant	nsv976754
Chromosome Location	chr12:87499593-87510046
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	chr12:87507574..87509719-chr12:87517143..87519195,2	MCF-7	breast:

Extended variants
information (count: 352 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191519723	chr12:87499642-87499643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550155405	chr12:87499650-87499651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555750802	chr12:87499656-87499657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56757042	chr12:87499666-87499667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575754240	chr12:87499667-87499668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7316038	chr12:87499698-87499699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564603837	chr12:87499699-87499700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376836678	chr12:87499704-87499705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139538389	chr12:87499724-87499725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555588831	chr12:87499744-87499745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560751014	chr12:87499752-87499753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370723651	chr12:87499757-87499758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529519957	chr12:87499811-87499812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184597750	chr12:87499840-87499841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12425011	chr12:87499887-87499888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530467334	chr12:87499895-87499896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116733067	chr12:87499913-87499914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566853564	chr12:87499997-87499998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12425030	chr12:87500017-87500018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187564509	chr12:87500040-87500041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12814454	chr12:87500047-87500048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535743308	chr12:87500072-87500073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193298510	chr12:87500113-87500114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534697137	chr12:87500161-87500162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185378722	chr12:87500190-87500191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538270866	chr12:87500194-87500195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575224386	chr12:87500202-87500203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577096700	chr12:87500233-87500234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558202867	chr12:87500234-87500235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12813510	chr12:87500266-87500267	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556325928	chr12:87500342-87500343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540728738	chr12:87500357-87500358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554025451	chr12:87500402-87500403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188973214	chr12:87500422-87500423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144159335	chr12:87500440-87500441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201469189	chr12:87500445-87500446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10858555	chr12:87500566-87500567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530403686	chr12:87500643-87500644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543777721	chr12:87500688-87500689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564125991	chr12:87500735-87500736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532848492	chr12:87500769-87500770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147772317	chr12:87500809-87500810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566538196	chr12:87500828-87500829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529136180	chr12:87500832-87500833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577279209	chr12:87500891-87500892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549276979	chr12:87500893-87500894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569143333	chr12:87500984-87500985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181409106	chr12:87501003-87501004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557824079	chr12:87501030-87501031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184059746	chr12:87501034-87501035	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87499200-87501400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:87499600-87500600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:87500600-87501600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:87500600-87502600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:87500600-87502800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:87500800-87502400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:87501000-87501200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:87501000-87501400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:87501000-87502600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:87501000-87502800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:87501200-87501600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:87501200-87502800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:87501400-87501800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:87501400-87502400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:87501400-87502600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:87501600-87502400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:87501600-87502800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr12:87501800-87503000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:87502400-87502600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:87502400-87502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:87502600-87502800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:87502600-87510600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:87503000-87506800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:87505800-87507000	Enhancers	Fetal Brain Male	brain
25	chr12:87506000-87506200	Enhancers	Fetal Brain Female	brain
26	chr12:87506200-87509400	Weak transcription	Fetal Brain Female	brain
27	chr12:87506600-87507000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:87506800-87507000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:87506800-87507400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:87507000-87509800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:87507000-87514400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:87509400-87509600	Enhancers	Fetal Brain Female	brain
33	chr12:87509600-87510000	Weak transcription	Fetal Brain Female	brain
34	chr12:87510000-87510200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:87510000-87510400	Enhancers	Fetal Brain Female	brain

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