Variant report

Variant	nsv1041126
Chromosome Location	chr12:86736601-86774957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 470 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539598984	chr12:86736608-86736609	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs75263675	chr12:86736654-86736655	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs566819264	chr12:86736656-86736657	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534338505	chr12:86736698-86736699	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs367751502	chr12:86736701-86736702	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190440400	chr12:86736745-86736746	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567084420	chr12:86737402-86737403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527778501	chr12:86737420-86737421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143396831	chr12:86737466-86737467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148366262	chr12:86737470-86737471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554555664	chr12:86737471-86737472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538193520	chr12:86737502-86737503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76512826	chr12:86737534-86737535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199807590	chr12:86737625-86737626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73387277	chr12:86737661-86737662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538968134	chr12:86737663-86737664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553663002	chr12:86737670-86737671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572244962	chr12:86737692-86737693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140724067	chr12:86737699-86737700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554603590	chr12:86737701-86737702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377730079	chr12:86737705-86737706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544002873	chr12:86743028-86743029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187267672	chr12:86743045-86743046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562252374	chr12:86743087-86743088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569481147	chr12:86743146-86743147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17367374	chr12:86743167-86743168	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551809509	chr12:86743190-86743191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367623773	chr12:86743224-86743225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566853239	chr12:86743286-86743287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80064446	chr12:86743311-86743312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555810299	chr12:86743315-86743316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567553937	chr12:86743358-86743359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115542015	chr12:86743385-86743386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556391679	chr12:86743405-86743406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17289052	chr12:86743439-86743440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192706934	chr12:86743457-86743458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184711703	chr12:86743474-86743475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553784543	chr12:86743477-86743478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572068864	chr12:86743520-86743521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150555923	chr12:86743545-86743546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12582690	chr12:86743596-86743597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187936631	chr12:86743597-86743598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183743089	chr12:86749803-86749804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs7954833	chr12:86749835-86749836	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs577647832	chr12:86749848-86749849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528108283	chr12:86749877-86749878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs149375910	chr12:86749946-86749947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs117186956	chr12:86750000-86750001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554239804	chr12:86750020-86750021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571667520	chr12:86750023-86750024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86736600-86736800	Flanking Active TSS	Hela-S3	cervix
2	chr12:86737400-86737800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:86743000-86743600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:86749800-86750600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr12:86750200-86750600	ZNF genes & repeats	Pancreas	Pancrea
6	chr12:86760000-86761400	Enhancers	Fetal Heart	heart
7	chr12:86760800-86761000	Enhancers	Duodenum Mucosa	Duodenum
8	chr12:86761000-86761400	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr12:86761000-86761400	Enhancers	Right Ventricle	heart
10	chr12:86761400-86769600	Weak transcription	Fetal Heart	heart
11	chr12:86763600-86764000	Enhancers	HUVEC	blood vessel
12	chr12:86764000-86764800	Flanking Active TSS	HUVEC	blood vessel
13	chr12:86764800-86765200	Enhancers	HUVEC	blood vessel
14	chr12:86768600-86769200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:86769200-86769800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:86769600-86770000	Enhancers	Fetal Heart	heart
17	chr12:86769800-86770000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:86773200-86774400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:86773800-86774200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:86773800-86774400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:86773800-86774600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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