Variant report

Variant	esv3498252
Chromosome Location	chr12:103838998-103847126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:103842159-103842359	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:103845253-103845269	A549	lung:	n/a	n/a
3	POLR2A	chr12:103840717-103840823	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:103845237-103845251	A549	lung:	n/a	n/a
5	STAT3	chr12:103839750-103839888	MCF10A-Er-Src	breast:	n/a	n/a
6	WRNIP1	chr12:103845539-103845552	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:103845899..103849186-chr12:103851469..103854474,4	K562	blood:

Variant related genes	Relation type
C12orf42	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140669620	chr12:103839027-103839028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149668886	chr12:103839044-103839045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10745969	chr12:103839066-103839067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577922133	chr12:103839067-103839068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370580627	chr12:103839235-103839236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11609563	chr12:103839281-103839282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537071070	chr12:103839335-103839336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563624469	chr12:103839342-103839343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115936087	chr12:103839349-103839350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575908704	chr12:103839352-103839353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541767298	chr12:103839354-103839355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561536673	chr12:103839356-103839357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112411264	chr12:103839457-103839458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182503047	chr12:103839511-103839512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186196941	chr12:103839532-103839533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189885813	chr12:103839552-103839553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12825357	chr12:103839577-103839578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549785701	chr12:103839582-103839583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563302853	chr12:103839622-103839623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529611883	chr12:103839623-103839624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542611171	chr12:103839627-103839628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182202458	chr12:103839701-103839702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59271764	chr12:103839712-103839713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566225930	chr12:103839759-103839760	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs372552685	chr12:103839767-103839768	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs187034620	chr12:103839906-103839907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115958581	chr12:103839959-103839960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373910364	chr12:103839960-103839961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10861016	chr12:103840005-103840006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140312099	chr12:103840010-103840011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191269583	chr12:103840055-103840056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567363553	chr12:103840101-103840102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535324522	chr12:103840150-103840151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561797560	chr12:103840172-103840173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187589609	chr12:103840210-103840211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565108380	chr12:103840212-103840213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532170346	chr12:103840240-103840241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555374327	chr12:103840281-103840282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183522702	chr12:103840304-103840305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540882599	chr12:103840313-103840314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188760576	chr12:103840314-103840315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577792496	chr12:103840357-103840358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371396582	chr12:103840393-103840394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552893504	chr12:103840397-103840398	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103837600-103839000	Weak transcription	Primary B cells from cord blood	blood
2	chr12:103838200-103840000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:103838400-103840000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:103838400-103840400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:103838800-103839200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr12:103838800-103839400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:103838800-103839600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:103838800-103839600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:103838800-103839800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:103838800-103840200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:103839000-103839200	Enhancers	Primary B cells from cord blood	blood
12	chr12:103839000-103839400	Enhancers	H1 Cell Line	embryonic stem cell

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