Variant report

Variant	nsv557983
Chromosome Location	chr12:30233450-30243473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 271 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7973806	chr12:30233450-30233451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7959104	chr12:30233467-30233468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549380607	chr12:30233491-30233492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546839465	chr12:30233501-30233502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531715049	chr12:30233533-30233534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531062309	chr12:30233534-30233535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73084800	chr12:30233556-30233557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538449203	chr12:30233557-30233558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538817788	chr12:30233658-30233659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151072542	chr12:30233690-30233691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199917893	chr12:30233701-30233702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140979515	chr12:30233706-30233707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373313985	chr12:30233708-30233709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150205751	chr12:30233720-30233721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7138636	chr12:30233732-30233733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7959152	chr12:30233736-30233737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537049869	chr12:30233760-30233761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547273590	chr12:30233765-30233766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565008406	chr12:30233813-30233814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576974615	chr12:30233838-30233839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73084801	chr12:30233867-30233868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116295267	chr12:30233871-30233872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572579372	chr12:30233872-30233873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10771627	chr12:30233898-30233899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10771628	chr12:30234000-30234001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs74080203	chr12:30234014-30234015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573401064	chr12:30234043-30234044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10771629	chr12:30234044-30234045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78171964	chr12:30234115-30234116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577777399	chr12:30234131-30234132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58614462	chr12:30234143-30234144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547210237	chr12:30234170-30234171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565565817	chr12:30234195-30234196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11050637	chr12:30234196-30234197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374223753	chr12:30237246-30237247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539830664	chr12:30237260-30237261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558327972	chr12:30237289-30237290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566804531	chr12:30237327-30237328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534008704	chr12:30237337-30237338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12578582	chr12:30237344-30237345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs727580	chr12:30237351-30237352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184786328	chr12:30237374-30237375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139613762	chr12:30237377-30237378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577266328	chr12:30237390-30237391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149727133	chr12:30237403-30237404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372250822	chr12:30237469-30237470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16935366	chr12:30237497-30237498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79321682	chr12:30237498-30237499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562171700	chr12:30237519-30237520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200608219	chr12:30237528-30237529	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30223000-30234200	Weak transcription	Aorta	Aorta
2	chr12:30237200-30237800	Enhancers	Stomach Smooth Muscle	stomach
3	chr12:30237800-30241400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:30239400-30242200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:30239600-30240000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30240000-30240400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:30240400-30240600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:30240600-30241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:30241400-30241800	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:30241400-30241800	Active TSS	Stomach Smooth Muscle	stomach
11	chr12:30241400-30242200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:30241600-30242000	Enhancers	HSMM	muscle
13	chr12:30241800-30243400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:30242200-30243400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:30243400-30243600	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:30243400-30243800	Enhancers	Muscle Satellite Cultured Cells	--

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