Variant report

Variant	esv3502007
Chromosome Location	chr12:44480230-44487575
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	chr12:43184139..43186103-chr12:44487352..44490285,2	K562	blood:

Extended variants
information (count: 267 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537938421	chr12:44480240-44480241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556187046	chr12:44480283-44480284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574721990	chr12:44480288-44480289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542543701	chr12:44480303-44480304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560637673	chr12:44480314-44480315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572674465	chr12:44480363-44480364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556237782	chr12:44480392-44480393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370603339	chr12:44480411-44480412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34571464	chr12:44480442-44480443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141023806	chr12:44480456-44480457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367671003	chr12:44480507-44480508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564632298	chr12:44480525-44480526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372441717	chr12:44480558-44480559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79820024	chr12:44480564-44480565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549877935	chr12:44480581-44480582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561755024	chr12:44480583-44480584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553982104	chr12:44480744-44480745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12311420	chr12:44480756-44480757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565839004	chr12:44480757-44480758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145859630	chr12:44480774-44480775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548245999	chr12:44480783-44480784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551201431	chr12:44480784-44480785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191655654	chr12:44480786-44480787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537977890	chr12:44480800-44480801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77700008	chr12:44480877-44480878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71455472	chr12:44480940-44480941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552476996	chr12:44480991-44480992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183490569	chr12:44481049-44481050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535505943	chr12:44481050-44481051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554092421	chr12:44481112-44481113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554850276	chr12:44481121-44481122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572787257	chr12:44481179-44481180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111549574	chr12:44481199-44481200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553827361	chr12:44481211-44481212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576609533	chr12:44481235-44481236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60335561	chr12:44481238-44481239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564695362	chr12:44481241-44481242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531071897	chr12:44481272-44481273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397973037	chr12:44481278-44481279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73288004	chr12:44481303-44481304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141993589	chr12:44481328-44481329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576904765	chr12:44481339-44481340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528934776	chr12:44481371-44481372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60939199	chr12:44481380-44481381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185704900	chr12:44481390-44481391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59128814	chr12:44481423-44481424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533103124	chr12:44481424-44481425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551240414	chr12:44481506-44481507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190223288	chr12:44481519-44481520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530634169	chr12:44481520-44481521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44458400-44482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44467600-44482600	Weak transcription	Left Ventricle	heart
3	chr12:44469400-44495600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44471200-44482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:44471400-44482400	Weak transcription	Aorta	Aorta
6	chr12:44482200-44482600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:44482200-44483000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:44482400-44482600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:44482400-44482600	Enhancers	Aorta	Aorta
10	chr12:44482400-44482800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:44482400-44482800	Enhancers	Psoas Muscle	Psoas
12	chr12:44482400-44482800	Enhancers	NHEK	skin
13	chr12:44482400-44483000	Enhancers	Fetal Heart	heart
14	chr12:44482400-44483000	Enhancers	HMEC	breast
15	chr12:44482600-44482800	Enhancers	Left Ventricle	heart
16	chr12:44482800-44501000	Weak transcription	Left Ventricle	heart
17	chr12:44483000-44485800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:44484600-44488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:44485400-44486200	Enhancers	Fetal Stomach	stomach
20	chr12:44485800-44486400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:44486200-44486800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:44486400-44486800	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:44486400-44491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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