Variant report

Variant	esv3516295
Chromosome Location	chr12:73736967-73737964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373999594	chr12:73737001-73737002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530228188	chr12:73737002-73737003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529517790	chr12:73737056-73737057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146147408	chr12:73737070-73737071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2363056	chr12:73737111-73737112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191204690	chr12:73737142-73737143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376931513	chr12:73737177-73737178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550206868	chr12:73737216-73737217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34078490	chr12:73737283-73737284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140993051	chr12:73737284-73737285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373406913	chr12:73737303-73737304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368072434	chr12:73737314-73737315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547416485	chr12:73737321-73737322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570431026	chr12:73737343-73737344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184495727	chr12:73737349-73737350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374127601	chr12:73737368-73737369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140026000	chr12:73737378-73737379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535707688	chr12:73737384-73737385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35499069	chr12:73737393-73737394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548996545	chr12:73737413-73737414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34585184	chr12:73737416-73737417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566009178	chr12:73737417-73737418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200718816	chr12:73737526-73737527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199518500	chr12:73737533-73737534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558165644	chr12:73737534-73737535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397793863	chr12:73737541-73737542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190506867	chr12:73737548-73737549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555933349	chr12:73737612-73737613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77652900	chr12:73737635-73737636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182213459	chr12:73737636-73737637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149769928	chr12:73737697-73737698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386764235	chr12:73737815-73737816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115102688	chr12:73737829-73737830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199898155	chr12:73737858-73737859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561498506	chr12:73737864-73737865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540655054	chr12:73737920-73737921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11831248	chr12:73737941-73737942	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
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
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73736000-73737000	Enhancers	Liver	Liver
2	chr12:73737000-73742000	Weak transcription	Liver	Liver

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