Variant report

Variant	nsv975426
Chromosome Location	chr12:84754482-84759178
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	chr12:84754965..84757723-chr12:84759689..84762304,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369958801	chr12:84755805-84755806	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs552559051	chr12:84755826-84755827	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs540881345	chr12:84755833-84755834	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs559245139	chr12:84755853-84755854	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs188859828	chr12:84755891-84755892	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs114748088	chr12:84755901-84755902	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs563369144	chr12:84755919-84755920	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs373420016	chr12:84755929-84755930	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs116670069	chr12:84755952-84755953	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs193105654	chr12:84755965-84755966	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs570856807	chr12:84755982-84755983	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs571625026	chr12:84756007-84756008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35677529	chr12:84756032-84756033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539035677	chr12:84756034-84756035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548078864	chr12:84756045-84756046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566391190	chr12:84756075-84756076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560797724	chr12:84756157-84756158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11116338	chr12:84756163-84756164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536576551	chr12:84756200-84756201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184244514	chr12:84756208-84756209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576605371	chr12:84756238-84756239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537109182	chr12:84756303-84756304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11116339	chr12:84756323-84756324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556881538	chr12:84756347-84756348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576402543	chr12:84756361-84756362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188863079	chr12:84756376-84756377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545643731	chr12:84756407-84756408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372231363	chr12:84756457-84756458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147332197	chr12:84756462-84756463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370672704	chr12:84756484-84756485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574655807	chr12:84756496-84756497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374830505	chr12:84756502-84756503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139952994	chr12:84756556-84756557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376415059	chr12:84756589-84756590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563492179	chr12:84756603-84756604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530625224	chr12:84756611-84756612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181659097	chr12:84756640-84756641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149847792	chr12:84756647-84756648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532513704	chr12:84756665-84756666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547795933	chr12:84756672-84756673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113599344	chr12:84756692-84756693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183953454	chr12:84756695-84756696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370678525	chr12:84756707-84756708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530417468	chr12:84756719-84756720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548610829	chr12:84756743-84756744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143889093	chr12:84756755-84756756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537269678	chr12:84756756-84756757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558197375	chr12:84756779-84756780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116430365	chr12:84756833-84756834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115895807	chr12:84756836-84756837	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
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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84755800-84756000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:84755800-84756200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:84756200-84757000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:84757200-84757400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:84757400-84757600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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