Variant report

Variant	esv2543561
Chromosome Location	chr12:86014722-86016009
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	chr12:86014804..86017595-chr12:86018520..86021053,2	MCF-7	breast:
2	chr12:86008021..86010789-chr12:86012957..86015625,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528050934	chr12:86014742-86014743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538886143	chr12:86014770-86014771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531996785	chr12:86014823-86014824	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554339779	chr12:86014845-86014846	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183291407	chr12:86014848-86014849	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546621593	chr12:86014912-86014913	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs12304956	chr12:86014952-86014953	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536935686	chr12:86014959-86014960	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139105380	chr12:86015012-86015013	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs576474019	chr12:86015016-86015017	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs537543775	chr12:86015026-86015027	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559051623	chr12:86015107-86015108	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542030494	chr12:86015262-86015263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540898891	chr12:86015266-86015267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559487490	chr12:86015314-86015315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149892766	chr12:86015386-86015387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7308482	chr12:86015447-86015448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs2199513	chr12:86015469-86015470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs530385994	chr12:86015474-86015475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144048471	chr12:86015577-86015578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563884870	chr12:86015606-86015607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369050759	chr12:86015643-86015644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12578708	chr12:86015652-86015653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs111685665	chr12:86015655-86015656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547708835	chr12:86015679-86015680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566229789	chr12:86015748-86015749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536562401	chr12:86015770-86015771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78161260	chr12:86015784-86015785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75502186	chr12:86015785-86015786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537491361	chr12:86015850-86015851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558972226	chr12:86015873-86015874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117918690	chr12:86015918-86015919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192110753	chr12:86015922-86015923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182878920	chr12:86015945-86015946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552914989	chr12:86015966-86015967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115321536	chr12:86016001-86016002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139914443	chr12:86016009-86016010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Bipolar disorder	19114987	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86011800-86014800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:86014600-86014800	Enhancers	NHEK	skin
3	chr12:86014600-86015200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:86014600-86015400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:86014600-86015600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:86014600-86015600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:86014800-86015200	Flanking Active TSS	NHEK	skin
8	chr12:86014800-86015400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:86014800-86015600	Enhancers	HMEC	breast
10	chr12:86015200-86015600	Enhancers	NHEK	skin
11	chr12:86015200-86020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:86015400-86017000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:86015400-86017200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:86015600-86019600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:86015600-86019600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:86015600-86019600	Weak transcription	HMEC	breast
17	chr12:86015600-86019800	Weak transcription	NHEK	skin

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