Variant report

Variant	nsv983249
Chromosome Location	chr12:72872229-72874519
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	chr12:72870843..72872636-chr12:72873336..72875663,2	K562	blood:
2	chr12:72870843..72872636-chr12:72873336..72875663,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545800122	chr12:72872244-72872245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190780445	chr12:72872245-72872246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139309551	chr12:72872246-72872247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577617374	chr12:72872257-72872258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571007407	chr12:72872290-72872291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79403735	chr12:72872298-72872299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398044495	chr12:72872300-72872301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544968389	chr12:72872311-72872312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77704970	chr12:72872321-72872322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141765861	chr12:72872340-72872341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368489550	chr12:72872357-72872358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530344752	chr12:72872381-72872382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7138667	chr12:72872438-72872439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150599759	chr12:72872459-72872460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542380087	chr12:72872473-72872474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549381791	chr12:72872477-72872478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560651122	chr12:72872514-72872515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527643769	chr12:72872535-72872536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562057887	chr12:72872546-72872547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372299174	chr12:72872627-72872628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541792925	chr12:72872692-72872693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146322623	chr12:72872701-72872702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200935245	chr12:72872702-72872703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552541416	chr12:72872717-72872718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75919794	chr12:72872720-72872721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549773392	chr12:72872721-72872722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58810029	chr12:72872722-72872723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570557320	chr12:72872736-72872737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531491329	chr12:72872755-72872756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375097223	chr12:72872770-72872771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569644985	chr12:72872812-72872813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74103375	chr12:72872824-72872825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183437859	chr12:72872895-72872896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535664725	chr12:72872897-72872898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553555349	chr12:72872904-72872905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146568432	chr12:72872907-72872908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188006303	chr12:72872921-72872922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539016669	chr12:72873017-72873018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557785458	chr12:72873060-72873061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191230079	chr12:72873111-72873112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576148352	chr12:72873160-72873161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183103590	chr12:72873241-72873242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556916441	chr12:72873242-72873243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574900619	chr12:72873263-72873264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116428727	chr12:72873298-72873299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560335777	chr12:72873312-72873313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527779623	chr12:72873362-72873363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555534552	chr12:72873397-72873398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5799077	chr12:72873427-72873428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398020105	chr12:72873436-72873437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Neurodevelopmental disorder	22521361	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72857800-72878800	Weak transcription	Adipose Nuclei	Adipose
2	chr12:72860200-72878800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:72860800-72878800	Weak transcription	Pancreas	Pancrea
4	chr12:72861400-72878600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:72865800-72878800	Weak transcription	Ovary	ovary
6	chr12:72869400-72878600	Weak transcription	Fetal Intestine Large	intestine
7	chr12:72870800-72878800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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