Variant report

Variant	nsv979405
Chromosome Location	chr20:24671733-24673470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:24671407..24673133-chr20:24673157..24675510,2	K562	blood:
2	chr20:24671696..24673797-chr20:24673883..24676356,3	MCF-7	breast:
3	chr20:24671407..24673133-chr20:24673157..24675510,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193051119	chr20:24671817-24671818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369970860	chr20:24671828-24671829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150221011	chr20:24671868-24671869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536449323	chr20:24671871-24671872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56067039	chr20:24671877-24671878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185089588	chr20:24671878-24671879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148992809	chr20:24671880-24671881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189985825	chr20:24671888-24671889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564932944	chr20:24671889-24671890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559127892	chr20:24671928-24671929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192680903	chr20:24671943-24671944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183794468	chr20:24671946-24671947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35006396	chr20:24672001-24672002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533338365	chr20:24672002-24672003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550222220	chr20:24672138-24672139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11698910	chr20:24672147-24672148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112853196	chr20:24672148-24672149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187975679	chr20:24672149-24672150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181909274	chr20:24672202-24672203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534940599	chr20:24672255-24672256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116413287	chr20:24672261-24672262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577683461	chr20:24672270-24672271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145145660	chr20:24672290-24672291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548457698	chr20:24672332-24672333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569986849	chr20:24672364-24672365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8122021	chr20:24672388-24672389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117841855	chr20:24672390-24672391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73106747	chr20:24672404-24672405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76606137	chr20:24672408-24672409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186131895	chr20:24672525-24672526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35116461	chr20:24672533-24672534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564576717	chr20:24672592-24672593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533283907	chr20:24672597-24672598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550159051	chr20:24672598-24672599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189029887	chr20:24672623-24672624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs36102356	chr20:24672642-24672643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549682658	chr20:24672653-24672654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369600658	chr20:24672660-24672661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34639647	chr20:24672684-24672685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551695119	chr20:24672705-24672706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117294097	chr20:24672726-24672727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560887203	chr20:24672768-24672769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34455208	chr20:24672769-24672770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11907336	chr20:24672785-24672786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11699014	chr20:24672796-24672797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141604624	chr20:24672802-24672803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35788799	chr20:24672812-24672813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535881049	chr20:24672815-24672816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553210746	chr20:24672836-24672837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182112231	chr20:24672897-24672898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24661400-24676000	Weak transcription	Fetal Kidney	kidney
2	chr20:24666600-24684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:24666800-24672200	Weak transcription	Thymus	Thymus
4	chr20:24672200-24673800	Enhancers	Thymus	Thymus
5	chr20:24672400-24677200	Enhancers	Fetal Thymus	thymus
6	chr20:24672800-24674400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr20:24673000-24674400	Enhancers	Primary hematopoietic stem cells	blood
8	chr20:24673200-24673400	Enhancers	Spleen	Spleen
9	chr20:24673200-24674200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr20:24673200-24674600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr20:24673400-24674600	Weak transcription	Spleen	Spleen
12	chr20:24673400-24674800	Enhancers	Left Ventricle	heart

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