Variant report

Variant	esv1793941
Chromosome Location	chr12:119006818-119022988
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	chr12:119019620..119021400-chr12:119023440..119025159,2	K562	blood:

Extended variants
information (count: 410 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368805184	chr12:119007610-119007611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs150064493	chr12:119007616-119007617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145298472	chr12:119007661-119007662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77856634	chr12:119007663-119007664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs79976951	chr12:119007715-119007716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184385996	chr12:119007728-119007729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189095784	chr12:119007730-119007731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs1520770	chr12:119007773-119007774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs111428601	chr12:119007779-119007780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553526783	chr12:119007783-119007784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147912572	chr12:119007792-119007793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542585590	chr12:119007828-119007829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374464334	chr12:119007834-119007835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562677858	chr12:119007854-119007855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs531554364	chr12:119007865-119007866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368661828	chr12:119007926-119007927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs141522414	chr12:119007932-119007933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533513952	chr12:119007955-119007956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572646311	chr12:119008004-119008005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs147028255	chr12:119008027-119008028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs566788228	chr12:119008049-119008050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138308720	chr12:119008071-119008072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs549427118	chr12:119008138-119008139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs569067440	chr12:119008281-119008282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181162614	chr12:119008321-119008322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561147555	chr12:119008326-119008327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140860808	chr12:119008339-119008340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186621726	chr12:119008398-119008399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574750268	chr12:119008420-119008421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573580191	chr12:119008435-119008436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542876949	chr12:119008467-119008468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs74980746	chr12:119008486-119008487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7313117	chr12:119008506-119008507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1520769	chr12:119008565-119008566	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545222533	chr12:119008572-119008573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532935461	chr12:119008574-119008575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs578038069	chr12:119008591-119008592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs138584509	chr12:119008615-119008616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76492091	chr12:119008650-119008651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs542128485	chr12:119008705-119008706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs5801279	chr12:119008750-119008751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs7296879	chr12:119008788-119008789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114643463	chr12:119008790-119008791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs562839126	chr12:119008811-119008812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530886004	chr12:119008828-119008829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs149307269	chr12:119008832-119008833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146207103	chr12:119008878-119008879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs137922995	chr12:119008879-119008880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs189117021	chr12:119008904-119008905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs547194409	chr12:119008915-119008916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119007600-119009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:119009200-119010400	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:119009400-119009800	Enhancers	Colon Smooth Muscle	Colon
4	chr12:119013400-119013800	Enhancers	Spleen	Spleen
5	chr12:119013600-119013800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:119013600-119014000	ZNF genes & repeats	Fetal Kidney	kidney
7	chr12:119013600-119014200	Active TSS	NHDF-Ad	bronchial
8	chr12:119015400-119021000	Enhancers	Fetal Brain Male	brain
9	chr12:119016200-119016400	Enhancers	Fetal Brain Female	brain
10	chr12:119016400-119017400	Weak transcription	Fetal Brain Female	brain
11	chr12:119017400-119020000	Enhancers	Fetal Brain Female	brain
12	chr12:119018800-119020400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:119019000-119020000	Enhancers	Brain Angular Gyrus	brain
14	chr12:119019000-119021000	Enhancers	Brain Germinal Matrix	brain
15	chr12:119019200-119019600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:119019200-119019600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:119019200-119019600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:119019200-119019800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:119019200-119020000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:119019200-119020000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:119019400-119019800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:119019400-119020800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:119019400-119021000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:119019600-119019800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:119019600-119020000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr12:119020000-119021400	Enhancers	Placenta	Placenta
27	chr12:119020400-119020600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:119021000-119021400	Weak transcription	Fetal Brain Male	brain
29	chr12:119021400-119022000	Enhancers	Fetal Brain Male	brain
30	chr12:119021400-119022600	Weak transcription	Placenta	Placenta
31	chr12:119021600-119022200	Enhancers	NHDF-Ad	bronchial
32	chr12:119022000-119026200	Weak transcription	Fetal Brain Male	brain
33	chr12:119022800-119023000	Enhancers	Placenta	Placenta

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