Variant report

Variant	nsv983439
Chromosome Location	chr12:72935110-72938198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372315509	chr12:72935147-72935148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547969664	chr12:72935208-72935209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535382963	chr12:72935235-72935236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34509981	chr12:72935286-72935287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566266785	chr12:72935343-72935344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555078327	chr12:72935460-72935461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183743013	chr12:72935465-72935466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187468830	chr12:72935514-72935515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548524922	chr12:72935532-72935533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146128587	chr12:72935584-72935585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537415758	chr12:72935620-72935621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79230462	chr12:72935645-72935646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369439913	chr12:72935690-72935691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573833790	chr12:72935745-72935746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531365868	chr12:72935809-72935810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192608023	chr12:72935873-72935874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552892257	chr12:72935896-72935897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537776053	chr12:72935898-72935899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577415680	chr12:72935910-72935911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140168570	chr12:72935927-72935928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs723867	chr12:72935947-72935948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530536915	chr12:72935953-72935954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183362927	chr12:72935961-72935962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186951950	chr12:72935981-72935982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191437051	chr12:72936004-72936005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs664965	chr12:72936017-72936018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369481054	chr12:72936021-72936022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373996203	chr12:72936024-72936025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560117573	chr12:72936025-72936026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372434474	chr12:72936063-72936064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375787823	chr12:72936079-72936080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200944180	chr12:72936128-72936129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202083774	chr12:72936154-72936155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376395789	chr12:72936160-72936161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567656011	chr12:72936161-72936162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116241510	chr12:72936253-72936254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552017261	chr12:72936295-72936296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115481048	chr12:72936303-72936304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537150063	chr12:72936332-72936333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549321205	chr12:72936474-72936475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116102649	chr12:72936492-72936493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552826444	chr12:72936535-72936536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184192354	chr12:72936536-72936537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375906883	chr12:72936622-72936623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367888937	chr12:72936624-72936625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566839104	chr12:72936625-72936626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577381905	chr12:72936684-72936685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538412683	chr12:72936723-72936724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556900462	chr12:72936745-72936746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189905328	chr12:72936759-72936760	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
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72934400-72935400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:72935000-72941000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:72935400-72935600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:72935600-72939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:72937800-72938200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:72937800-72938600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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