Variant report

Variant	esv3490330
Chromosome Location	chr12:85272486-85273696
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	CEBPB	chr12:85273318-85273635	A549	lung:	n/a	chr12:85273466-85273477 chr12:85273465-85273478
2	CEBPB	chr12:85273326-85273578	Hela-S3	cervix:	n/a	chr12:85273466-85273477 chr12:85273465-85273478
3	CEBPB	chr12:85273382-85273621	IMR90	lung:	n/a	chr12:85273466-85273477 chr12:85273465-85273478
4	CEBPB	chr12:85273336-85273604	HepG2	liver:	n/a	chr12:85273466-85273477 chr12:85273465-85273478
5	MAFF	chr12:85273007-85273230	HepG2	liver:	n/a	chr12:85273084-85273098 chr12:85273078-85273096
6	MAFK	chr12:85272925-85273164	HepG2	liver:	n/a	chr12:85273080-85273095 chr12:85273083-85273099
7	MAFK	chr12:85273036-85273126	HepG2	liver:	n/a	chr12:85273080-85273095 chr12:85273083-85273099
8	POLR2A	chr12:85272608-85273594	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr12:85273245-85273448	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:85272731-85273048	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:85272443-85273158	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr12:85272459-85273521	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:85273594-85273663	Hela-S3	cervix:	n/a	n/a
14	SPI1	chr12:85272455-85272691	GM12878	blood:	n/a	n/a
15	SPI1	chr12:85272473-85272682	GM12891	blood:	n/a	n/a
16	SPI1	chr12:85272445-85272699	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:85270876..85273150-chr12:85276094..85278154,2	MCF-7	breast:

Variant related genes	Relation type
SLC6A15	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117301191	chr12:85272503-85272504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs117021216	chr12:85272514-85272515	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs7967042	chr12:85272526-85272527	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs74489465	chr12:85272573-85272574	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs137874190	chr12:85272631-85272632	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs556815959	chr12:85272646-85272647	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561821661	chr12:85272687-85272688	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561753328	chr12:85272690-85272691	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs193287806	chr12:85272704-85272705	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs80016313	chr12:85272707-85272708	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs185086976	chr12:85272779-85272780	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs149495049	chr12:85272830-85272831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7955752	chr12:85272869-85272870	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112626172	chr12:85272875-85272876	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs115311187	chr12:85272884-85272885	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533342537	chr12:85272930-85272931	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375803770	chr12:85272938-85272939	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs17787827	chr12:85272943-85272944	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570553056	chr12:85272956-85272957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565224205	chr12:85273016-85273017	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs532290561	chr12:85273025-85273026	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547596675	chr12:85273038-85273039	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs143951296	chr12:85273045-85273046	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529802443	chr12:85273050-85273051	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs148665850	chr12:85273051-85273052	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113420241	chr12:85273108-85273109	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs11338196	chr12:85273113-85273114	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs62808361	chr12:85273121-85273122	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs61929974	chr12:85273123-85273124	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs537893367	chr12:85273144-85273145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs568070568	chr12:85273156-85273157	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs141237859	chr12:85273160-85273161	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs535712060	chr12:85273181-85273182	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs571945756	chr12:85273187-85273188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs538943182	chr12:85273214-85273215	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs147435375	chr12:85273264-85273265	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs572695823	chr12:85273265-85273266	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112510185	chr12:85273269-85273270	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs61929975	chr12:85273280-85273281	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372315963	chr12:85273305-85273306	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs554708838	chr12:85273311-85273312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115539245	chr12:85273330-85273331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139738100	chr12:85273331-85273332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539237552	chr12:85273347-85273348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145285266	chr12:85273352-85273353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147676731	chr12:85273357-85273358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375378713	chr12:85273361-85273362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2404236	chr12:85273385-85273386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139689880	chr12:85273422-85273423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149799079	chr12:85273430-85273431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85251000-85303000	Weak transcription	NHEK	skin
2	chr12:85251800-85285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:85254000-85276800	Weak transcription	Fetal Brain Male	brain
4	chr12:85254000-85289800	Weak transcription	Brain Angular Gyrus	brain
5	chr12:85255400-85284200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:85267200-85273800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:85267200-85274400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:85268200-85274000	Weak transcription	HMEC	breast
9	chr12:85268200-85274800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:85268600-85273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:85269200-85289800	Weak transcription	Hela-S3	cervix
12	chr12:85269400-85285800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:85271400-85280800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:85273600-85280000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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