Variant report

Variant	nsv964355
Chromosome Location	chr20:1533047-1535398
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	POLR2A	chr20:1534534-1534714	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SIRPD	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141196442	chr20:1533062-1533063	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532155282	chr20:1533063-1533064	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569001460	chr20:1533066-1533067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539708391	chr20:1533079-1533080	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73078712	chr20:1533092-1533093	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs566814413	chr20:1533095-1533096	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190993007	chr20:1533118-1533119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146195429	chr20:1533128-1533129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17794026	chr20:1533141-1533142	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs73569180	chr20:1533154-1533155	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556336311	chr20:1533176-1533177	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2249431	chr20:1533205-1533206	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs369129722	chr20:1533220-1533221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377083310	chr20:1533266-1533267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545636415	chr20:1533320-1533321	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560641735	chr20:1533335-1533336	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6079570	chr20:1533365-1533366	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572762111	chr20:1533366-1533367	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540215878	chr20:1533370-1533371	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561693140	chr20:1533416-1533417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528991772	chr20:1533452-1533453	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113200157	chr20:1533478-1533479	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6079572	chr20:1533482-1533483	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533959091	chr20:1533493-1533494	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562665437	chr20:1533531-1533532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137883330	chr20:1533623-1533624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551626197	chr20:1533641-1533642	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566671286	chr20:1533642-1533643	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183341350	chr20:1533675-1533676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570570055	chr20:1533695-1533696	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548946076	chr20:1533697-1533698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73569183	chr20:1533702-1533703	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529493130	chr20:1533708-1533709	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537940328	chr20:1533717-1533718	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539448306	chr20:1533752-1533753	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556384929	chr20:1533764-1533765	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187243212	chr20:1533765-1533766	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576016312	chr20:1533786-1533787	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146156203	chr20:1533787-1533788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8121406	chr20:1533818-1533819	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6042937	chr20:1533825-1533826	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs543387718	chr20:1533880-1533881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374771470	chr20:1533893-1533894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139950965	chr20:1533896-1533897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573686717	chr20:1533913-1533914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192915470	chr20:1534002-1534003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184883358	chr20:1534026-1534027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572568896	chr20:1534043-1534044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112267351	chr20:1534061-1534062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559994790	chr20:1534071-1534072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Prostate cancer	21551127	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1529600-1533800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr20:1529800-1533800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr20:1529800-1536400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr20:1532800-1545400	Weak transcription	Spleen	Spleen
5	chr20:1533800-1535800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr20:1533800-1536400	Weak transcription	Primary monocytes fromperipheralblood	blood

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