Variant report

Variant	esv3329401
Chromosome Location	chr12:31943372-31943943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31935950..31938716-chr12:31941172..31943567,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570407345	chr12:31943396-31943397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539497932	chr12:31943406-31943407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12306276	chr12:31943430-31943431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566988836	chr12:31943472-31943473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116125350	chr12:31943495-31943496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200075964	chr12:31943535-31943536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142182297	chr12:31943536-31943537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77748113	chr12:31943537-31943538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60698409	chr12:31943548-31943549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555804247	chr12:31943570-31943571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534700359	chr12:31943585-31943586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547009475	chr12:31943610-31943611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568639959	chr12:31943645-31943646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562022602	chr12:31943694-31943695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1797738	chr12:31943705-31943706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547788960	chr12:31943714-31943715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140509106	chr12:31943720-31943721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558529396	chr12:31943797-31943798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185380127	chr12:31943853-31943854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545840028	chr12:31943873-31943874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537144850	chr12:31943914-31943915	Weak transcription Enhancers	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:18 , 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	chr12:31942200-31943800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:31942200-31944400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:31942200-31944800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:31942600-31943800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:31942600-31944600	Enhancers	Primary T cells from cord blood	blood
9	chr12:31942600-31944600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:31942600-31944600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:31942600-31944600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:31942800-31944200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:31942800-31944400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:31942800-31944400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:31942800-31956600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:31943000-31943400	Enhancers	Fetal Thymus	thymus
17	chr12:31943800-31944600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:31943800-31944600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links