Variant report

Variant	nsv525883
Chromosome Location	chr12:73669855-73694683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 279 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1400062	chr12:73669855-73669856	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539004650	chr12:73669874-73669875	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565794177	chr12:73669900-73669901	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559006823	chr12:73669913-73669914	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113675611	chr12:73669919-73669920	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575652482	chr12:73669921-73669922	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543150585	chr12:73669930-73669931	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142502390	chr12:73669941-73669942	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs555091257	chr12:73670008-73670009	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531291713	chr12:73670105-73670106	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574919099	chr12:73670120-73670121	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35357488	chr12:73670161-73670162	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs534907586	chr12:73670169-73670170	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113286733	chr12:73670232-73670233	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs560387897	chr12:73670244-73670245	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532683487	chr12:73670266-73670267	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs10748217	chr12:73670298-73670299	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371616023	chr12:73670301-73670302	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564730835	chr12:73670336-73670337	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs34233267	chr12:73670391-73670392	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189758758	chr12:73670402-73670403	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550397852	chr12:73670418-73670419	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147573460	chr12:73670424-73670425	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376097166	chr12:73670482-73670483	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs563145950	chr12:73670515-73670516	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142060956	chr12:73670521-73670522	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs566738155	chr12:73670522-73670523	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs10735973	chr12:73670532-73670533	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558865644	chr12:73670656-73670657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17112178	chr12:73670706-73670707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573461940	chr12:73670731-73670732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554744930	chr12:73670757-73670758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574899541	chr12:73670794-73670795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115812253	chr12:73670800-73670801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542534717	chr12:73670805-73670806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556667050	chr12:73670857-73670858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7139006	chr12:73670945-73670946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546088216	chr12:73670949-73670950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181350689	chr12:73671026-73671027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112140828	chr12:73671029-73671030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559250988	chr12:73671030-73671031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147801669	chr12:73671047-73671048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185944610	chr12:73671059-73671060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1356201	chr12:73671066-73671067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142508767	chr12:73671112-73671113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546776435	chr12:73671149-73671150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566674478	chr12:73671160-73671161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532395310	chr12:73671166-73671167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562094842	chr12:73671207-73671208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150252373	chr12:73671257-73671258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73669000-73678200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:73669600-73670600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:73670400-73670600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:73671200-73672600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr12:73671600-73672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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