Variant report

Variant	nsv470312
Chromosome Location	chr12:87248804-87319908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 540 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544983318	chr12:87263076-87263077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140033002	chr12:87263148-87263149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371423719	chr12:87263173-87263174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377440922	chr12:87263182-87263183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2451072	chr12:87263207-87263208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529907998	chr12:87263221-87263222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181779420	chr12:87263245-87263246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569929899	chr12:87263266-87263267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145565414	chr12:87263355-87263356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149247618	chr12:87286406-87286407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555824156	chr12:87286499-87286500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180765594	chr12:87286500-87286501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186449050	chr12:87286510-87286511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537972940	chr12:87286523-87286524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144464201	chr12:87286525-87286526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578114344	chr12:87286526-87286527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529128247	chr12:87286555-87286556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554036689	chr12:87286593-87286594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574030084	chr12:87286736-87286737	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs148481332	chr12:87286737-87286738	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369662992	chr12:87286755-87286756	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374235259	chr12:87286756-87286757	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552901538	chr12:87297039-87297040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142993867	chr12:87297062-87297063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527265797	chr12:87297070-87297071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187407180	chr12:87297083-87297084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75857173	chr12:87297102-87297103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567328142	chr12:87297164-87297165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201538237	chr12:87297166-87297167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151219874	chr12:87297167-87297168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151081224	chr12:87297255-87297256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529644829	chr12:87297332-87297333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549516120	chr12:87297375-87297376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145761402	chr12:87299616-87299617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542978769	chr12:87299636-87299637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549352439	chr12:87299642-87299643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562953764	chr12:87299686-87299687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574187223	chr12:87299715-87299716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189183766	chr12:87299724-87299725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75970966	chr12:87299745-87299746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545492403	chr12:87299759-87299760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559698925	chr12:87299800-87299801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192095367	chr12:87299801-87299802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113139058	chr12:87299862-87299863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561809624	chr12:87299879-87299880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10858519	chr12:87299908-87299909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550955945	chr12:87299911-87299912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570853578	chr12:87299982-87299983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12318901	chr12:87299989-87299990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147778495	chr12:87300004-87300005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87263000-87263400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:87286400-87286600	Enhancers	Gastric	stomach
3	chr12:87286600-87286800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:87286600-87286800	ZNF genes & repeats	Gastric	stomach
5	chr12:87297000-87297400	Enhancers	Fetal Brain Female	brain
6	chr12:87299600-87305800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:87305400-87307200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr12:87305800-87306200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:87305800-87306400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:87306000-87306400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:87306200-87307600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr12:87306400-87306600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:87306600-87307200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr12:87306600-87309000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:87307200-87310800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:87307600-87311000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:87308600-87309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:87309000-87309200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:87310800-87311400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:87311000-87311200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:87311000-87311200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:87318600-87319200	Enhancers	Fetal Heart	heart
23	chr12:87318800-87319800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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