Variant report

Variant	esv20512
Chromosome Location	chr12:44394412-44399214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44385802..44388469-chr12:44397794..44400628,2	MCF-7	breast:
2	chr12:44396911..44397707-chr12:45324896..45325406,2	MCF-7	breast:
3	chr12:44393907..44394577-chr12:45342454..45343052,2	MCF-7	breast:
4	chr12:44393933..44394766-chr12:45324489..45325458,2	MCF-7	breast:
5	chr12:44397809..44398404-chrX:134418432..134418932,2	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140447985	chr12:44394419-44394420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149982868	chr12:44394430-44394431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12320155	chr12:44394433-44394434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565087527	chr12:44394434-44394435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577512894	chr12:44394437-44394438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562902910	chr12:44394451-44394452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544914894	chr12:44394465-44394466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181621134	chr12:44394488-44394489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530296947	chr12:44394489-44394490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542415700	chr12:44394505-44394506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146589682	chr12:44394525-44394526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141286008	chr12:44394584-44394585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369380045	chr12:44394604-44394605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570347362	chr12:44394653-44394654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531541043	chr12:44394699-44394700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376425843	chr12:44394703-44394704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549648880	chr12:44394786-44394787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11182369	chr12:44394840-44394841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535287283	chr12:44394842-44394843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553511659	chr12:44394853-44394854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566960966	chr12:44394862-44394863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551931469	chr12:44394883-44394884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11182370	chr12:44394889-44394890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374304724	chr12:44394890-44394891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577156108	chr12:44394913-44394914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11182371	chr12:44394939-44394940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556920482	chr12:44394956-44394957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74084793	chr12:44394974-44394975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377747230	chr12:44394992-44394993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539844549	chr12:44395015-44395016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527751399	chr12:44395049-44395050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560432173	chr12:44395146-44395147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186625246	chr12:44395159-44395160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11182372	chr12:44395170-44395171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545571471	chr12:44395175-44395176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564142456	chr12:44395201-44395202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549562489	chr12:44395208-44395209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567707551	chr12:44395244-44395245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116092432	chr12:44395262-44395263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549336672	chr12:44395264-44395265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568025424	chr12:44395343-44395344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138971669	chr12:44395356-44395357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547617622	chr12:44395362-44395363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148970466	chr12:44395451-44395452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11182373	chr12:44395480-44395481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558763894	chr12:44395481-44395482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73087623	chr12:44395528-44395529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538260637	chr12:44395584-44395585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148165414	chr12:44395608-44395609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528275679	chr12:44395653-44395654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
3	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44387400-44399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44387600-44399400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
7	chr12:44394000-44394600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:44394400-44394600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:44394400-44394800	Enhancers	HepG2	liver
10	chr12:44394400-44394800	Enhancers	HMEC	breast
11	chr12:44394400-44394800	Enhancers	NHEK	skin
12	chr12:44394600-44400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:44394600-44403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:44394800-44399000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:44394800-44401800	Weak transcription	HMEC	breast
16	chr12:44395000-44401400	Weak transcription	Fetal Intestine Large	intestine
17	chr12:44397000-44399400	Weak transcription	Ovary	ovary
18	chr12:44397200-44398000	Enhancers	NHDF-Ad	bronchial
19	chr12:44397200-44398400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:44397400-44398200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:44397600-44397800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:44397600-44398200	Enhancers	Osteobl	bone
23	chr12:44397800-44398000	Enhancers	HSMM	muscle
24	chr12:44398000-44402400	Weak transcription	HSMM	muscle
25	chr12:44399200-44400200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:44399200-44401800	Weak transcription	Duodenum Mucosa	Duodenum

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