Variant report

Variant	esv3351404
Chromosome Location	chr12:83628571-83631319
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	chr12:83621899..83623681-chr12:83628874..83631467,2	MCF-7	breast:

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	rs147992306	chr12:83628571-83628572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142362190	chr12:83628599-83628600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532351563	chr12:83628624-83628625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185326125	chr12:83628684-83628685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560006318	chr12:83628715-83628716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527506375	chr12:83628721-83628722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373736403	chr12:83628729-83628730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145955434	chr12:83628750-83628751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117073240	chr12:83628794-83628795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531403294	chr12:83628803-83628804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549878042	chr12:83628826-83628827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12425182	chr12:83628828-83628829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538626658	chr12:83628836-83628837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554514196	chr12:83628874-83628875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532332292	chr12:83628930-83628931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536466687	chr12:83628932-83628933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552157379	chr12:83628957-83628958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189087162	chr12:83628958-83628959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74106359	chr12:83630405-83630406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6539713	chr12:83630418-83630419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs527411916	chr12:83630458-83630459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183273368	chr12:83630524-83630525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576882112	chr12:83630606-83630607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61931884	chr12:83630618-83630619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552916726	chr12:83630633-83630634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574728242	chr12:83630663-83630664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542952808	chr12:83630680-83630681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561013260	chr12:83630700-83630701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570665291	chr12:83630725-83630726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576192283	chr12:83630743-83630744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149969006	chr12:83630754-83630755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185271688	chr12:83630767-83630768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190530463	chr12:83630777-83630778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376219850	chr12:83630789-83630790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547498298	chr12:83630793-83630794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369631499	chr12:83630799-83630800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144227562	chr12:83630802-83630803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529656412	chr12:83630841-83630842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531362819	chr12:83630876-83630877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2203747	chr12:83630890-83630891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117918490	chr12:83630901-83630902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535863109	chr12:83630904-83630905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568957760	chr12:83630907-83630908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182752158	chr12:83630984-83630985	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
Neurodevelopmental disorder	22521361	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
Breast cancer	21785460	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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83628400-83628800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:83628400-83629000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:83628600-83628800	Enhancers	Colon Smooth Muscle	Colon
4	chr12:83630400-83631000	Enhancers	Pancreatic Islets	Pancreatic Islet

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