Variant report

Variant	esv32665
Chromosome Location	chr12:30541494-30549192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 325 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565123636	chr12:30541505-30541506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79523130	chr12:30541510-30541511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555164460	chr12:30541529-30541530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570017720	chr12:30541554-30541555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537535217	chr12:30541573-30541574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559142648	chr12:30541590-30541591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4930922	chr12:30541623-30541624	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79067998	chr12:30541663-30541664	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111471815	chr12:30541689-30541690	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182163473	chr12:30541724-30541725	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541626334	chr12:30541725-30541726	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373136937	chr12:30541727-30541728	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547538052	chr12:30541738-30541739	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563484074	chr12:30541739-30541740	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559388141	chr12:30541743-30541744	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78240888	chr12:30541759-30541760	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186697710	chr12:30541766-30541767	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545490310	chr12:30541769-30541770	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563878748	chr12:30541773-30541774	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528038043	chr12:30541786-30541787	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115098767	chr12:30541787-30541788	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529959594	chr12:30541809-30541810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530436363	chr12:30541810-30541811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs354107	chr12:30541816-30541817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138335840	chr12:30541868-30541869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188793566	chr12:30541872-30541873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56800276	chr12:30541883-30541884	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs57484381	chr12:30541892-30541893	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570963410	chr12:30541898-30541899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78170558	chr12:30541956-30541957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367770524	chr12:30541961-30541962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111576551	chr12:30542004-30542005	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181169193	chr12:30542005-30542006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143239429	chr12:30542084-30542085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575385531	chr12:30542098-30542099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545602692	chr12:30542104-30542105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10771705	chr12:30542136-30542137	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs572622116	chr12:30542179-30542180	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148311088	chr12:30542185-30542186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561706183	chr12:30542229-30542230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534908807	chr12:30542249-30542250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528908737	chr12:30542285-30542286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1429633	chr12:30542300-30542301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1366942	chr12:30542324-30542325	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs531083130	chr12:30542337-30542338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552829717	chr12:30542380-30542381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375577592	chr12:30542444-30542445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1366943	chr12:30542449-30542450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372833042	chr12:30542506-30542507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535107674	chr12:30542519-30542520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30539400-30541600	Weak transcription	Liver	Liver
2	chr12:30541600-30541800	Enhancers	Liver	Liver
3	chr12:30541600-30542400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:30541800-30542600	Weak transcription	Liver	Liver
5	chr12:30542600-30543400	Enhancers	Liver	Liver
6	chr12:30543400-30546200	Weak transcription	Liver	Liver
7	chr12:30546200-30546600	Enhancers	Liver	Liver
8	chr12:30546200-30550800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:30546600-30555000	Weak transcription	Liver	Liver
10	chr12:30547800-30549400	Enhancers	K562	blood
11	chr12:30548400-30551200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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