Variant report

Variant	nsv899412
Chromosome Location	chr12:87346094-87506910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 2997 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2997 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1873154	chr12:87346094-87346095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1873153	chr12:87346109-87346110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187013557	chr12:87346128-87346129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576526384	chr12:87346142-87346143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529484176	chr12:87346231-87346232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545472721	chr12:87346245-87346246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535131699	chr12:87346339-87346340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34175796	chr12:87346364-87346365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565389602	chr12:87346398-87346399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572488966	chr12:87346438-87346439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541611202	chr12:87346440-87346441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561353962	chr12:87346472-87346473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139963344	chr12:87346488-87346489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550079999	chr12:87346493-87346494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562118667	chr12:87346520-87346521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559952020	chr12:87346536-87346537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143498352	chr12:87346598-87346599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547433247	chr12:87346618-87346619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116126750	chr12:87346629-87346630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34676430	chr12:87346682-87346683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536378032	chr12:87346713-87346714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34374175	chr12:87346739-87346740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571314646	chr12:87346775-87346776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192722224	chr12:87346787-87346788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35735723	chr12:87346814-87346815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562849885	chr12:87346815-87346816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547554775	chr12:87346817-87346818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567364179	chr12:87346818-87346819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558341214	chr12:87346848-87346849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71307602	chr12:87346849-87346850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556501904	chr12:87346853-87346854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189117950	chr12:87346863-87346864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145550123	chr12:87346864-87346865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559040363	chr12:87346877-87346878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148455501	chr12:87346888-87346889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541204029	chr12:87346919-87346920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558045865	chr12:87346972-87346973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571591717	chr12:87346976-87346977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368713407	chr12:87346978-87346979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12297884	chr12:87347042-87347043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569791114	chr12:87347046-87347047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61951461	chr12:87347060-87347061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73192749	chr12:87347157-87347158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs193046877	chr12:87347198-87347199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543666538	chr12:87347211-87347212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563628359	chr12:87347232-87347233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116135729	chr12:87347287-87347288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73192750	chr12:87347308-87347309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564762290	chr12:87347317-87347318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184830990	chr12:87347328-87347329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87343000-87353600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:87343400-87350200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:87344600-87353600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:87350200-87358000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:87350800-87351200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
6	chr12:87351200-87358800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:87353600-87354200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:87353600-87354400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:87353600-87355200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:87354400-87363000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:87355200-87355800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:87355800-87356400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:87356400-87358600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:87358000-87358600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:87358600-87359400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr12:87358600-87359400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:87359400-87360000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:87359400-87360800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:87360000-87362400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:87360800-87362000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr12:87362400-87363200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:87363000-87364800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr12:87363200-87364400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr12:87363200-87365200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr12:87364400-87364800	Active TSS	Gastric	stomach
26	chr12:87364400-87365000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:87377400-87378000	Enhancers	Fetal Heart	heart
28	chr12:87379000-87379600	Enhancers	Liver	Liver
29	chr12:87385200-87385600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:87392200-87395200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr12:87392400-87393600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr12:87394800-87395000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:87394800-87395200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
34	chr12:87395000-87401400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:87398800-87424000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:87402400-87403000	Enhancers	Liver	Liver
37	chr12:87414400-87414600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:87414800-87415200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:87435000-87435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:87435200-87436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:87441800-87442000	Enhancers	Fetal Brain Male	brain
42	chr12:87442000-87448400	Weak transcription	Fetal Brain Male	brain
43	chr12:87445000-87445800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:87445200-87446200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:87445400-87445800	Enhancers	A549	lung
46	chr12:87446200-87448000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:87447800-87448600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:87448000-87448600	Enhancers	Fetal Brain Female	brain
49	chr12:87448000-87448800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:87448400-87449200	Enhancers	Fetal Brain Male	brain

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