Variant report

Variant	nsv585213
Chromosome Location	chr20:1389863-1391436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1388186..1390453-chr20:1399929..1402694,2	K562	blood:
2	chr20:1374791..1377395-chr20:1388884..1390483,2	K562	blood:
3	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
4	chr20:1389651..1392477-chr20:1392965..1396440,4	K562	blood:
5	chr20:1391237..1393735-chr20:1396844..1398411,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6109845	chr20:1389863-1389864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7271023	chr20:1389881-1389882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7271027	chr20:1389896-1389897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561722538	chr20:1389935-1389936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146248537	chr20:1389936-1389937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7272681	chr20:1389952-1389953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541805560	chr20:1389974-1389975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7261672	chr20:1390023-1390024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183676898	chr20:1390027-1390028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527444601	chr20:1390040-1390041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6514392	chr20:1390247-1390248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7261873	chr20:1390349-1390350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548344955	chr20:1390414-1390415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8116350	chr20:1390430-1390431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138652453	chr20:1390504-1390505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs8121136	chr20:1390579-1390580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6079033	chr20:1390683-1390684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539280554	chr20:1390695-1390696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149312407	chr20:1390747-1390748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576101825	chr20:1390785-1390786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201780169	chr20:1390810-1390811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374152820	chr20:1390812-1390813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377615327	chr20:1390813-1390814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370788726	chr20:1390814-1390815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535540421	chr20:1390834-1390835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555131410	chr20:1390872-1390873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572025551	chr20:1390877-1390878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541002258	chr20:1391167-1391168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188189213	chr20:1391169-1391170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373376377	chr20:1391182-1391183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180989668	chr20:1391189-1391190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115327434	chr20:1391207-1391208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116362316	chr20:1391211-1391212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386811608	chr20:1391262-1391263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115362632	chr20:1391264-1391265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113941828	chr20:1391327-1391328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6079040	chr20:1391334-1391335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76518121	chr20:1391342-1391343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34099696	chr20:1391385-1391386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6074603	chr20:1391391-1391392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6042065	chr20:1391436-1391437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:65)

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
Ovarian clear cell carcinoma	21343371	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
Lung cancer	18438408	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1383800-1396000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr20:1384400-1395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:1384400-1396000	Weak transcription	HMEC	breast
4	chr20:1389000-1396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr20:1389200-1396400	Weak transcription	Placenta	Placenta
6	chr20:1390200-1390600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:1390600-1396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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