Variant report

Variant	nsv973043
Chromosome Location	chr12:31206179-31207406
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	chr12:9620209..9621328-chr12:31206996..31207808,4	MCF-7	breast:
2	chr12:9620489..9621323-chr12:31206721..31207493,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373974439	chr12:31206189-31206190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191270747	chr12:31206213-31206214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565578018	chr12:31206241-31206242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183131591	chr12:31206261-31206262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201348601	chr12:31206267-31206268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75928383	chr12:31206292-31206293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563797883	chr12:31206294-31206295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371644850	chr12:31206316-31206317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149350129	chr12:31206344-31206345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185402147	chr12:31206370-31206371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530946765	chr12:31206377-31206378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189819300	chr12:31206486-31206487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182179455	chr12:31206549-31206550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570104381	chr12:31206569-31206570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71444373	chr12:31206586-31206587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368117273	chr12:31206587-31206588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539293988	chr12:31206588-31206589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201068386	chr12:31206603-31206604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201285513	chr12:31206611-31206612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537449438	chr12:31206676-31206677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552242546	chr12:31206747-31206748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371660888	chr12:31206748-31206749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35020	chr12:31206764-31206765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs200069279	chr12:31206796-31206797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372085631	chr12:31206797-31206798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534578232	chr12:31206812-31206813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187798226	chr12:31206813-31206814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552769304	chr12:31206815-31206816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574279447	chr12:31206859-31206860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149112616	chr12:31206887-31206888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140417780	chr12:31206901-31206902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575203481	chr12:31206935-31206936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140874858	chr12:31207000-31207001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369594145	chr12:31207034-31207035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183528874	chr12:31207123-31207124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373497672	chr12:31207124-31207125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35019	chr12:31207178-31207179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147445862	chr12:31207206-31207207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371846034	chr12:31207222-31207223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111667299	chr12:31207260-31207261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560021988	chr12:31207272-31207273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530305590	chr12:31207273-31207274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542387021	chr12:31207287-31207288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370592400	chr12:31207288-31207289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373554301	chr12:31207289-31207290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563772434	chr12:31207290-31207291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530868313	chr12:31207327-31207328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552557304	chr12:31207353-31207354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149187130	chr12:31207358-31207359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188536908	chr12:31207364-31207365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31189800-31225400	Weak transcription	Fetal Stomach	stomach
2	chr12:31195000-31206200	Weak transcription	Left Ventricle	heart
3	chr12:31202200-31219400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:31203200-31207600	Enhancers	Fetal Thymus	thymus
5	chr12:31204200-31206800	Enhancers	Thymus	Thymus
6	chr12:31205000-31206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:31205000-31206200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:31205000-31206400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:31205000-31210400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:31205400-31207000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:31205400-31207000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:31205600-31206200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:31205800-31206200	Weak transcription	HSMMtube	muscle
14	chr12:31206000-31206200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:31206000-31206600	Enhancers	NH-A	brain
16	chr12:31206000-31206800	Enhancers	HepG2	liver
17	chr12:31206000-31207000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:31206200-31206400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:31206200-31206400	Enhancers	Left Ventricle	heart
20	chr12:31206200-31206600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:31206200-31206600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:31206200-31206600	Enhancers	Fetal Intestine Large	intestine
23	chr12:31206200-31206800	Enhancers	HSMMtube	muscle
24	chr12:31206200-31207000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:31206200-31207000	Enhancers	HSMM	muscle
26	chr12:31206400-31206600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:31206400-31207800	Enhancers	Fetal Heart	heart
28	chr12:31206600-31206800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:31206600-31210400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:31206600-31210800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:31206600-31211200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:31206800-31211600	Weak transcription	Thymus	Thymus

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