Variant report

Variant	nsv558139
Chromosome Location	chr12:31952514-31953240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377439496	chr12:31952542-31952543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548111168	chr12:31952588-31952589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57050611	chr12:31952599-31952600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148082746	chr12:31952633-31952634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184247076	chr12:31952779-31952780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568480443	chr12:31952787-31952788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188726356	chr12:31952823-31952824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557519392	chr12:31952844-31952845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577775507	chr12:31952862-31952863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533735108	chr12:31952869-31952870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56093220	chr12:31952923-31952924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79448998	chr12:31952928-31952929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543078466	chr12:31952977-31952978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192009997	chr12:31953013-31953014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573833243	chr12:31953021-31953022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539708095	chr12:31953079-31953080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115176924	chr12:31953084-31953085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370136072	chr12:31953092-31953093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565226720	chr12:31953156-31953157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527932580	chr12:31953183-31953184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541244546	chr12:31953214-31953215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561663460	chr12:31953232-31953233	Weak transcription	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31942800-31956600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:31950200-31954400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:31950600-31956600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:31950600-31956600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:31950800-31954200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:31950800-31956200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:31950800-31956800	Weak transcription	Dnd41	blood
8	chr12:31951000-31953600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:31951000-31954200	Weak transcription	Primary T cells from cord blood	blood
10	chr12:31951000-31954400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:31951000-31954600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:31951000-31955000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:31951200-31954800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:31951200-31955000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:31951200-31955000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:31951400-31956800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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