Variant report

Variant	esv3420165
Chromosome Location	chr12:85269171-85270119
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	CTCF	chr12:85269120-85269270	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr12:85269200-85269350	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr12:85269260-85269410	HRPEpiC	eye:	n/a	n/a
4	MAFK	chr12:85269011-85269315	HepG2	liver:	n/a	chr12:85269151-85269162 chr12:85269150-85269164 chr12:85269147-85269163 chr12:85269152-85269163 chr12:85269152-85269163 chr12:85269151-85269162
5	MAFK	chr12:85269099-85269299	IMR90	lung:	n/a	chr12:85269151-85269162 chr12:85269150-85269164 chr12:85269147-85269163 chr12:85269152-85269163 chr12:85269152-85269163 chr12:85269151-85269162
6	MAFK	chr12:85269125-85269179	Hela-S3	cervix:	n/a	chr12:85269151-85269162 chr12:85269150-85269164 chr12:85269147-85269163 chr12:85269152-85269163 chr12:85269152-85269163 chr12:85269151-85269162
7	SMC3	chr12:85268346-85269349	Hela-S3	cervix:	n/a	chr12:85268516-85268530
8	USF2	chr12:85269218-85269227	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:85269198..85269791-chr12:85451134..85451813,2	MCF-7	breast:
2	chr12:85268551..85271336-chr12:85421363..85424699,4	MCF-7	breast:

Variant related genes	Relation type
SLC6A15	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552763337	chr12:85269224-85269225	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs59543252	chr12:85269252-85269253	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558490554	chr12:85269318-85269319	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552804904	chr12:85269332-85269333	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs539395971	chr12:85269339-85269340	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs138881635	chr12:85269345-85269346	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs149441606	chr12:85269360-85269361	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs147301191	chr12:85269426-85269427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200711032	chr12:85269475-85269476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141271407	chr12:85269477-85269478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571617816	chr12:85269478-85269479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62858161	chr12:85269479-85269480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368804804	chr12:85269492-85269493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71437101	chr12:85269495-85269496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71437102	chr12:85269497-85269498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2949793	chr12:85269507-85269508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9668049	chr12:85269519-85269520	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2949794	chr12:85269531-85269532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2949795	chr12:85269560-85269561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538110730	chr12:85269564-85269565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71432138	chr12:85269566-85269567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2949796	chr12:85269567-85269568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376559917	chr12:85269600-85269601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563649593	chr12:85269686-85269687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34033442	chr12:85269734-85269735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2949797	chr12:85269763-85269764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139167297	chr12:85269784-85269785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571087748	chr12:85269794-85269795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373430780	chr12:85269868-85269869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145046220	chr12:85269880-85269881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76000779	chr12:85269882-85269883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56031839	chr12:85269883-85269884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10779144	chr12:85269886-85269887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567856588	chr12:85269899-85269900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181716490	chr12:85269901-85269902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2949798	chr12:85269910-85269911	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142550971	chr12:85269919-85269920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377329932	chr12:85269937-85269938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2924139	chr12:85269944-85269945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187138002	chr12:85269962-85269963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2949799	chr12:85269965-85269966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573089305	chr12:85270007-85270008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78530546	chr12:85270010-85270011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76916705	chr12:85270011-85270012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76677637	chr12:85270013-85270014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189508613	chr12:85270037-85270038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555521689	chr12:85270094-85270095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78828475	chr12:85270102-85270103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542362572	chr12:85270116-85270117	Weak transcription Enhancers	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85250000-85271400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:85251000-85303000	Weak transcription	NHEK	skin
3	chr12:85251800-85285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:85253800-85271200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:85254000-85276800	Weak transcription	Fetal Brain Male	brain
6	chr12:85254000-85289800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:85254600-85270600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:85254800-85271200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:85255400-85284200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:85262000-85269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:85267200-85273800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:85267200-85274400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:85268200-85274000	Weak transcription	HMEC	breast
14	chr12:85268200-85274800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:85268600-85269400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:85268600-85273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:85268800-85269400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:85269000-85269200	Enhancers	Hela-S3	cervix
19	chr12:85269200-85271400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:85269200-85289800	Weak transcription	Hela-S3	cervix
21	chr12:85269400-85270600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:85269400-85285800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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