Variant report

Variant	nsv973994
Chromosome Location	chr12:9385012-9387552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr12:9387213-9387241	GM12878	blood:	n/a	n/a
2	GATA3	chr12:9387549-9387809	SH-SY5Y	brain:	n/a	chr12:9387628-9387638
3	MYC	chr12:9384966-9385024	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:9386168-9386224	Gliobla	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PZP-1	chr12:9384958-9385176	ENSG00000256359
2	lnc-PZP-1	chr12:9386731-9386803	ENSG00000256359
3	lnc-PZP-1	chr12:9385982-9386288	ENSG00000256359

Variant related genes	Relation type
A2MP1	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139450400	chr12:9385057-9385058	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs543515870	chr12:9385149-9385150	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs149753957	chr12:9385153-9385154	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs544791141	chr12:9385154-9385155	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs186593820	chr12:9385181-9385182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377747877	chr12:9385244-9385245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376394503	chr12:9385251-9385252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145623673	chr12:9385291-9385292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11049697	chr12:9385339-9385340	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs34362	chr12:9385425-9385426	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191054589	chr12:9385442-9385443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550592564	chr12:9385511-9385512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561203909	chr12:9385521-9385522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11611670	chr12:9385535-9385536	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs546799519	chr12:9385608-9385609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371018369	chr12:9385609-9385610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76736054	chr12:9385611-9385612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73251329	chr12:9385612-9385613	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538787612	chr12:9385615-9385616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552259385	chr12:9385699-9385700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116641602	chr12:9385756-9385757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569008907	chr12:9385893-9385894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183489125	chr12:9385968-9385969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116046537	chr12:9386124-9386125	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs7315222	chr12:9386210-9386211	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186807146	chr12:9386353-9386354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191300651	chr12:9386354-9386355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79617020	chr12:9386367-9386368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567679154	chr12:9386387-9386388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537889453	chr12:9386444-9386445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112489268	chr12:9386498-9386499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536772532	chr12:9386516-9386517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183115700	chr12:9386567-9386568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554531309	chr12:9386596-9386597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148878121	chr12:9386597-9386598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76105552	chr12:9386645-9386646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145196096	chr12:9386657-9386658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370751323	chr12:9386669-9386670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117114294	chr12:9386770-9386771	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs57660999	chr12:9386795-9386796	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147698392	chr12:9386895-9386896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534248149	chr12:9386906-9386907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142402998	chr12:9386922-9386923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146505580	chr12:9386968-9386969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577373308	chr12:9387033-9387034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150443204	chr12:9387137-9387138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186607013	chr12:9387159-9387160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546232072	chr12:9387271-9387272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191436337	chr12:9387308-9387309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538646272	chr12:9387365-9387366	Weak transcription Strong 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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9374400-9392600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:9376200-9392600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:9379200-9385800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:9380200-9386000	Weak transcription	Spleen	Spleen
5	chr12:9383400-9392600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:9383800-9392600	Weak transcription	Left Ventricle	heart
7	chr12:9384800-9388400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:9385800-9387000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr12:9386000-9386200	Enhancers	Spleen	Spleen
10	chr12:9387000-9392600	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links