Variant report

Variant	nsv519683
Chromosome Location	chr12:40967369-40987568
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	chr12:40974030..40975876-chr12:40978694..40980782,2	K562	blood:
2	chr12:40974030..40975876-chr12:40978694..40980782,2	K562	blood:

Extended variants
information (count: 391 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7134929	chr12:40967369-40967370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561877925	chr12:40967373-40967374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573849623	chr12:40967409-40967410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541542992	chr12:40967457-40967458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559550377	chr12:40967458-40967459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142835814	chr12:40967525-40967526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7308996	chr12:40967530-40967531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150231677	chr12:40967580-40967581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78334550	chr12:40967583-40967584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549232470	chr12:40967596-40967597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567543012	chr12:40967649-40967650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182709414	chr12:40967679-40967680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185968512	chr12:40967686-40967687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138887011	chr12:40967793-40967794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182997451	chr12:40974205-40974206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565546626	chr12:40974227-40974228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs539477470	chr12:40974233-40974234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs551393826	chr12:40974263-40974264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76239734	chr12:40974269-40974270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537326246	chr12:40974324-40974325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555286893	chr12:40974327-40974328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573753696	chr12:40974346-40974347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs534812818	chr12:40974359-40974360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs12422396	chr12:40974398-40974399	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544107890	chr12:40977234-40977235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562681179	chr12:40977250-40977251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189192579	chr12:40977258-40977259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10878851	chr12:40977290-40977291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4768294	chr12:40977296-40977297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527805138	chr12:40977332-40977333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541900470	chr12:40977357-40977358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546294594	chr12:40977372-40977373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10878852	chr12:40977398-40977399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4768295	chr12:40977417-40977418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550143986	chr12:40977439-40977440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192835051	chr12:40977467-40977468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552618787	chr12:40977476-40977477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547686689	chr12:40977477-40977478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565907164	chr12:40977486-40977487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145436595	chr12:40977514-40977515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4768296	chr12:40977525-40977526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570202350	chr12:40977531-40977532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7310318	chr12:40977535-40977536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556103916	chr12:40977536-40977537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7295536	chr12:40977540-40977541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542074215	chr12:40977551-40977552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553709623	chr12:40977580-40977581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185367837	chr12:40977606-40977607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147694914	chr12:40977649-40977650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565235839	chr12:40977656-40977657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40947400-40967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40974200-40974400	ZNF genes & repeats	Pancreas	Pancrea
3	chr12:40977200-40977400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:40977400-40978000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:40978000-40979600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:40979600-40981200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:40980200-40980600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:40981200-40981800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:40982200-40984800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:40983600-40984200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:40984000-40984800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:40985400-40985600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:40985600-40986000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:40985600-40986400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:40986000-40986400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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