Variant report

Variant	nsv8903
Chromosome Location	chr12:9375688-9381273
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	chr12:9378550..9380275-chr12:9397056..9399605,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PZP-1	chr12:9381129-9381294	ENSG00000256359

Variant related genes	Relation type
ENSG00000256427	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146334127	chr12:9375702-9375703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139578793	chr12:9375714-9375715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547323305	chr12:9375743-9375744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144211457	chr12:9375766-9375767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191713557	chr12:9375818-9375819	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146051748	chr12:9375843-9375844	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148711153	chr12:9375844-9375845	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142475373	chr12:9375877-9375878	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185031175	chr12:9375925-9375926	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151323586	chr12:9375984-9375985	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140574671	chr12:9376045-9376046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74060664	chr12:9376103-9376104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7298108	chr12:9376168-9376169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs145501749	chr12:9376198-9376199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77229653	chr12:9376242-9376243	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187573695	chr12:9376258-9376259	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377626900	chr12:9376269-9376270	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74060666	chr12:9376311-9376312	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4459362	chr12:9376351-9376352	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs113897774	chr12:9376388-9376389	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145801967	chr12:9376400-9376401	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11393143	chr12:9376407-9376408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4883222	chr12:9376415-9376416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4883223	chr12:9376580-9376581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2889719	chr12:9376595-9376596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77600844	chr12:9376633-9376634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2217228	chr12:9376649-9376650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs147799916	chr12:9376702-9376703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539496482	chr12:9376738-9376739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371616286	chr12:9376759-9376760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28728001	chr12:9376760-9376761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2195210	chr12:9376788-9376789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575647919	chr12:9376790-9376791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192812295	chr12:9376800-9376801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184353786	chr12:9376821-9376822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137944295	chr12:9376836-9376837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149031544	chr12:9376839-9376840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555243245	chr12:9376920-9376921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572299988	chr12:9376921-9376922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2195211	chr12:9377006-9377007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2195212	chr12:9377049-9377050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577736674	chr12:9377054-9377055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189162031	chr12:9377225-9377226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7978537	chr12:9377322-9377323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs371034572	chr12:9377332-9377333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6487680	chr12:9377351-9377352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7978746	chr12:9377437-9377438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs549395941	chr12:9377450-9377451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142881046	chr12:9377453-9377454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150636583	chr12:9377499-9377500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9357400-9384800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:9374400-9375800	Weak transcription	HepG2	liver
3	chr12:9374400-9392600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:9374600-9380200	Weak transcription	Fetal Lung	lung
5	chr12:9374800-9375800	Weak transcription	Liver	Liver
6	chr12:9375800-9376000	Flanking Active TSS	Liver	Liver
7	chr12:9375800-9376600	Enhancers	HepG2	liver
8	chr12:9376000-9376200	Enhancers	Liver	Liver
9	chr12:9376200-9376400	Flanking Active TSS	Liver	Liver
10	chr12:9376200-9392600	Weak transcription	Primary T cells from cord blood	blood
11	chr12:9379000-9379200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:9379200-9385800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:9380200-9381200	Enhancers	Fetal Lung	lung
14	chr12:9380200-9386000	Weak transcription	Spleen	Spleen
15	chr12:9380400-9381400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:9380600-9381000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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