Variant report

Variant	nsv1049612
Chromosome Location	chr12:87369654-87430209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:87386481..87388359-chr12:87403399..87406210,2	MCF-7	breast:
2	chr12:87376736..87379148-chr12:87408006..87409813,2	K562	blood:
3	chr12:87376736..87379148-chr12:87408006..87409813,2	K562	blood:
4	chr12:87386481..87388359-chr12:87403399..87406210,2	MCF-7	breast:

Extended variants
information (count: 1250 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528798066	chr12:87377439-87377440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561184649	chr12:87377444-87377445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187007810	chr12:87377463-87377464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55675470	chr12:87377595-87377596	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529743140	chr12:87377602-87377603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549608723	chr12:87377734-87377735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374839670	chr12:87377738-87377739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569773895	chr12:87377746-87377747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201163755	chr12:87377791-87377792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552354683	chr12:87377819-87377820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73411193	chr12:87377939-87377940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12422318	chr12:87377991-87377992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34098787	chr12:87379003-87379004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188538163	chr12:87379019-87379020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192147147	chr12:87379068-87379069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532503276	chr12:87379072-87379073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575594077	chr12:87379089-87379090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532042481	chr12:87379132-87379133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545468804	chr12:87379162-87379163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551013879	chr12:87379166-87379167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184196680	chr12:87379178-87379179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547989290	chr12:87379232-87379233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569315282	chr12:87379397-87379398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567966343	chr12:87379415-87379416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535780051	chr12:87379431-87379432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201975413	chr12:87379513-87379514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369359840	chr12:87379518-87379519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188525240	chr12:87379545-87379546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180937340	chr12:87379563-87379564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146472103	chr12:87379576-87379577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79288658	chr12:87379580-87379581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564777735	chr12:87385237-87385238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147655797	chr12:87385260-87385261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552041351	chr12:87385268-87385269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34204075	chr12:87385278-87385279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367768188	chr12:87385280-87385281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534655364	chr12:87385298-87385299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs67823383	chr12:87385405-87385406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568428837	chr12:87385429-87385430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549976650	chr12:87385465-87385466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537539349	chr12:87385516-87385517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112744722	chr12:87385544-87385545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370856269	chr12:87385557-87385558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577512201	chr12:87385579-87385580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs36077301	chr12:87392312-87392313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs529849721	chr12:87392346-87392347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs67748606	chr12:87392382-87392383	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112566390	chr12:87392387-87392388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112604036	chr12:87392399-87392400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200887338	chr12:87392408-87392409	ZNF genes & repeats	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
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
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
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87377400-87378000	Enhancers	Fetal Heart	heart
2	chr12:87379000-87379600	Enhancers	Liver	Liver
3	chr12:87385200-87385600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:87392200-87395200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr12:87392400-87393600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr12:87394800-87395000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:87394800-87395200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
8	chr12:87395000-87401400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:87398800-87424000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:87402400-87403000	Enhancers	Liver	Liver
11	chr12:87414400-87414600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:87414800-87415200	Weak transcription	H9 Cell Line	embryonic stem cell

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