Variant report

Variant	nsv559207
Chromosome Location	chr12:66992868-66995266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1493481	chr12:66992868-66992869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539547778	chr12:66992891-66992892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557651810	chr12:66992893-66992894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535271805	chr12:66992939-66992940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555181695	chr12:66992940-66992941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575010113	chr12:66992944-66992945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562015880	chr12:66992956-66992957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12231318	chr12:66992962-66992963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541040732	chr12:66992996-66992997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559394386	chr12:66993084-66993085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371594189	chr12:66993101-66993102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2029692	chr12:66993162-66993163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs551887699	chr12:66993165-66993166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563721035	chr12:66993183-66993184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190168064	chr12:66993186-66993187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74100511	chr12:66993197-66993198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182715738	chr12:66993203-66993204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10506488	chr12:66993205-66993206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545876038	chr12:66993243-66993244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187940948	chr12:66993276-66993277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547394170	chr12:66993284-66993285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113560832	chr12:66993298-66993299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565712389	chr12:66993301-66993302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11176308	chr12:66993306-66993307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10506489	chr12:66993321-66993322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147569827	chr12:66993389-66993390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552218094	chr12:66993399-66993400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375591611	chr12:66993416-66993417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540854715	chr12:66993422-66993423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552789015	chr12:66993451-66993452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1353104	chr12:66993456-66993457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372613250	chr12:66993458-66993459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531349845	chr12:66993468-66993469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75508153	chr12:66993510-66993511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540956950	chr12:66993525-66993526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192220669	chr12:66993530-66993531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117902861	chr12:66993603-66993604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115237014	chr12:66993613-66993614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563808534	chr12:66993706-66993707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530973956	chr12:66993722-66993723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543223559	chr12:66993727-66993728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561492114	chr12:66993770-66993771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528777619	chr12:66993783-66993784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533699595	chr12:66993800-66993801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73325117	chr12:66993805-66993806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549805805	chr12:66993821-66993822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374486002	chr12:66993855-66993856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563139156	chr12:66993862-66993863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376567487	chr12:66993873-66993874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532944375	chr12:66993887-66993888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Renal cell carcinoma	18194544	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
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66981200-66993000	Weak transcription	Fetal Brain Female	brain
2	chr12:66983400-66994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:66984600-66994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:66984800-66993800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:66990400-66994600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:66991400-66994800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:66991400-66994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:66991400-66995000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:66991600-66994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:66991600-66994800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:66991600-66995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:66992000-66994800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:66992600-66993200	Enhancers	Fetal Brain Male	brain
14	chr12:66992600-66994000	Enhancers	Fetal Kidney	kidney
15	chr12:66992600-66994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:66992600-66995600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:66992800-66993000	Enhancers	Colon Smooth Muscle	Colon
18	chr12:66993000-66993200	Enhancers	Fetal Brain Female	brain
19	chr12:66993200-66993600	Weak transcription	Fetal Brain Female	brain
20	chr12:66993200-66994600	Weak transcription	Fetal Brain Male	brain
21	chr12:66993200-66994800	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:66993600-66993800	Enhancers	Brain Germinal Matrix	brain
23	chr12:66993600-66996600	Enhancers	Fetal Brain Female	brain
24	chr12:66993800-66994200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr12:66993800-66994400	Weak transcription	Brain Germinal Matrix	brain
26	chr12:66994000-66996400	Weak transcription	Fetal Kidney	kidney
27	chr12:66994400-66997000	Enhancers	Brain Germinal Matrix	brain
28	chr12:66994600-66995000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:66994600-66995000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:66994600-66995200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:66994600-66995200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:66994600-66995400	Enhancers	Fetal Brain Male	brain
33	chr12:66994600-66995600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:66994800-66995600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:66994800-66995600	Enhancers	Colon Smooth Muscle	Colon
36	chr12:66994800-66996200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:66994800-66996600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:66994800-66996600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:66994800-66997000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:66994800-66997200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr12:66994800-66997400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:66994800-66997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:66994800-66998000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:66995000-66995400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:66995000-66998000	Enhancers	H1 Cell Line	embryonic stem cell

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