Variant report

Variant	nsv983306
Chromosome Location	chr12:31943940-31944440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	H3F3C	hsa-miR-1	chr12:31944121-31944142

Extended variants
information (count: 18 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373375430	chr12:31943944-31943945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117595192	chr12:31943955-31943956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541579444	chr12:31943986-31943987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561783829	chr12:31944013-31944014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377724975	chr12:31944104-31944105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530659713	chr12:31944111-31944112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550362047	chr12:31944170-31944171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564070029	chr12:31944217-31944218	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs34845138	chr12:31944218-31944219	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs398076550	chr12:31944228-31944229	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs397851048	chr12:31944229-31944230	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533042890	chr12:31944260-31944261	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189860374	chr12:31944321-31944322	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566775619	chr12:31944325-31944326	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573769421	chr12:31944330-31944331	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs36058687	chr12:31944332-31944333	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549218527	chr12:31944403-31944404	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142261223	chr12:31944431-31944432	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31939200-31947600	Weak transcription	Fetal Kidney	kidney
2	chr12:31941800-31944600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:31942000-31944600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:31942200-31944400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:31942200-31944800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:31942600-31944600	Enhancers	Primary T cells from cord blood	blood
7	chr12:31942600-31944600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:31942600-31944600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:31942600-31944600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:31942800-31944200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:31942800-31944400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr12:31942800-31944400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:31942800-31956600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:31943800-31944600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:31943800-31944600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:31944200-31945000	Active TSS	HUVEC	blood vessel
17	chr12:31944200-31949600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:31944400-31949200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:31944400-31949400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:31944400-31949400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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