Variant report

Variant	nsv470311
Chromosome Location	chr12:86484366-86550783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:86511451..86513760-chr12:86516670..86519004,2	K562	blood:
2	chr12:86543597..86545688-chr12:86546239..86548183,2	K562	blood:
3	chr12:86543597..86545688-chr12:86546239..86548183,2	K562	blood:
4	chr12:86511451..86513760-chr12:86516670..86519004,2	K562	blood:

Extended variants
information (count: 1306 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1306 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12425751	chr12:86484443-86484444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375005249	chr12:86484447-86484448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531921891	chr12:86484518-86484519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527613196	chr12:86484541-86484542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542372324	chr12:86484606-86484607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35539100	chr12:86484659-86484660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147005399	chr12:86484661-86484662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571769191	chr12:86484681-86484682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547238048	chr12:86484731-86484732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532616368	chr12:86484817-86484818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10506927	chr12:86484821-86484822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572508817	chr12:86484918-86484919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79987601	chr12:86484981-86484982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536643278	chr12:86485001-86485002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548332434	chr12:86485072-86485073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569888279	chr12:86485114-86485115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556745791	chr12:86485155-86485156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78398809	chr12:86485225-86485226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112742382	chr12:86485314-86485315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12302272	chr12:86485352-86485353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115661512	chr12:86485386-86485387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141838006	chr12:86485434-86485435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376219817	chr12:86485488-86485489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574234641	chr12:86485559-86485560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180886592	chr12:86485561-86485562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563141288	chr12:86485565-86485566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576647302	chr12:86485615-86485616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543774209	chr12:86485618-86485619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1354258	chr12:86485647-86485648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs146805044	chr12:86485649-86485650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377467605	chr12:86485650-86485651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201370493	chr12:86485653-86485654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200863240	chr12:86485654-86485655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189131186	chr12:86485659-86485660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114103449	chr12:86485679-86485680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116910766	chr12:86485680-86485681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530144052	chr12:86485714-86485715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116438257	chr12:86485732-86485733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569969729	chr12:86485742-86485743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537490146	chr12:86485809-86485810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529866483	chr12:86485873-86485874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548406451	chr12:86485893-86485894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573541326	chr12:86485938-86485939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73379406	chr12:86486006-86486007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75747742	chr12:86486009-86486010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552759012	chr12:86486027-86486028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574148009	chr12:86486081-86486082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560679865	chr12:86486086-86486087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79275304	chr12:86486115-86486116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556881237	chr12:86486126-86486127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86484400-86486000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:86485000-86486000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:86485200-86485800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:86485200-86486000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:86486000-86487800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:86487800-86488000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:86488000-86488400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:86488400-86488600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:86488400-86489400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:86488600-86489400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:86488600-86489800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:86489400-86490400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:86489400-86490400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:86489800-86491400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:86490400-86491000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:86490400-86491400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:86490400-86491600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:86490600-86491200	Enhancers	Fetal Lung	lung
19	chr12:86491400-86491600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:86493200-86493600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:86493600-86495600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:86495600-86495800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:86495800-86497400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:86497400-86497600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:86497800-86498200	Enhancers	NHEK	skin
26	chr12:86501800-86502800	Enhancers	Brain Germinal Matrix	brain
27	chr12:86502200-86502800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:86502400-86502800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:86506800-86507800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:86510800-86511800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:86516800-86517200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:86520600-86521000	Enhancers	Fetal Heart	heart
33	chr12:86522600-86523400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:86523400-86528200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:86524800-86525600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:86525600-86527400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:86525800-86526000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:86525800-86526200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:86526200-86528200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:86526200-86531200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:86526800-86529800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr12:86527000-86527200	Enhancers	Brain Germinal Matrix	brain
43	chr12:86527000-86527400	Enhancers	Fetal Heart	heart
44	chr12:86527000-86528400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:86527000-86528800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr12:86527200-86528200	Weak transcription	Brain Germinal Matrix	brain
47	chr12:86527400-86527600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:86527400-86529800	Weak transcription	Fetal Heart	heart
49	chr12:86527600-86528000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:86528000-86528200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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