Variant report

Variant	nsv1054448
Chromosome Location	chr12:84870138-84893729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:84892820..84894512-chr12:84900141..84901736,2	K562	blood:
2	chr12:84219601..84220107-chr12:84891353..84892072,2	MCF-7	breast:
3	chr12:83856124..83856792-chr12:84890820..84891796,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34508355	chr12:84881815-84881816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373850786	chr12:84881816-84881817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139436236	chr12:84881888-84881889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150059813	chr12:84881964-84881965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561532621	chr12:84881966-84881967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7311282	chr12:84882022-84882023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541278142	chr12:84882028-84882029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527819734	chr12:84882045-84882046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549513094	chr12:84882051-84882052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567635008	chr12:84882113-84882114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145466753	chr12:84882175-84882176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550406770	chr12:84882186-84882187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571885020	chr12:84882187-84882188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539204552	chr12:84882194-84882195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115355269	chr12:84882376-84882377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183870781	chr12:84891269-84891270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538222279	chr12:84891286-84891287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535690722	chr12:84891377-84891378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554747006	chr12:84891399-84891400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146485809	chr12:84891415-84891416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543570310	chr12:84891430-84891431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372063587	chr12:84891452-84891453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564908718	chr12:84891480-84891481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141159195	chr12:84891518-84891519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541287873	chr12:84891524-84891525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559662784	chr12:84891637-84891638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530227683	chr12:84891644-84891645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11116427	chr12:84891650-84891651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12827116	chr12:84891735-84891736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144843177	chr12:84891756-84891757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2611292	chr12:84891790-84891791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11116428	chr12:84891803-84891804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375833200	chr12:84891819-84891820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116221306	chr12:84891946-84891947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534608811	chr12:84891974-84891975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113634217	chr12:84892002-84892003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189088445	chr12:84892059-84892060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368248742	chr12:84892061-84892062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148922058	chr12:84892077-84892078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143718605	chr12:84892083-84892084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192833170	chr12:84892094-84892095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558636765	chr12:84892114-84892115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148122760	chr12:84892131-84892132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541075303	chr12:84892137-84892138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185369856	chr12:84892152-84892153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187475135	chr12:84892159-84892160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140978627	chr12:84892162-84892163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150255599	chr12:84892203-84892204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531012286	chr12:84892210-84892211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367892222	chr12:84892244-84892245	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
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
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
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84881800-84882400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr12:84891200-84893000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:84891600-84892000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:84893000-84896400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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