Variant report

Variant	esv3373991
Chromosome Location	chr12:75237685-75240783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75239042..75240714-chr12:75242382..75243969,2	K562	blood:
2	chr12:75236955..75238898-chr12:75240406..75242003,2	MCF-7	breast:
3	chr12:75234590..75237406-chr12:75238194..75240127,2	K562	blood:
4	chr12:75236955..75238898-chr12:75240406..75242003,2	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532737579	chr12:75238481-75238482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76258377	chr12:75238492-75238493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183693423	chr12:75238500-75238501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552819839	chr12:75238507-75238508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12312600	chr12:75238540-75238541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189131976	chr12:75238601-75238602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565147246	chr12:75238655-75238656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530631513	chr12:75238669-75238670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150686354	chr12:75238696-75238697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140731067	chr12:75238780-75238781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530205403	chr12:75238803-75238804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546633289	chr12:75238830-75238831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538761314	chr12:75238835-75238836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538603486	chr12:75238900-75238901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56654790	chr12:75238905-75238906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs377234911	chr12:75238923-75238924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569500640	chr12:75238924-75238925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538090822	chr12:75238929-75238930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369727441	chr12:75238984-75238985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184566303	chr12:75239059-75239060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529860426	chr12:75239073-75239074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142958957	chr12:75239098-75239099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553056895	chr12:75239202-75239203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187122612	chr12:75239203-75239204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544986397	chr12:75239207-75239208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191934262	chr12:75239224-75239225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372935325	chr12:75239288-75239289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147483676	chr12:75239319-75239320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544121996	chr12:75239322-75239323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561125363	chr12:75239335-75239336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139972736	chr12:75239390-75239391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535342877	chr12:75239401-75239402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113448870	chr12:75239427-75239428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532388864	chr12:75239487-75239488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149941038	chr12:75239488-75239489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576082772	chr12:75239525-75239526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569478754	chr12:75239548-75239549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145206287	chr12:75239550-75239551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376309352	chr12:75239554-75239555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144991267	chr12:75239596-75239597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548541474	chr12:75239722-75239723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568641204	chr12:75239730-75239731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76362607	chr12:75239731-75239732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553119934	chr12:75239734-75239735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75615623	chr12:75239782-75239783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538663469	chr12:75239796-75239797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148697951	chr12:75239799-75239800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575487777	chr12:75239823-75239824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142231835	chr12:75239900-75239901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554522826	chr12:75239910-75239911	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	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
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75238400-75238600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:75238600-75239600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:75239600-75241200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:75239800-75240200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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