Variant report

Variant	nsv980040
Chromosome Location	chr3:144049507-144054115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:144047302..144050208-chr3:144050986..144053451,2	K562	blood:
2	chr3:144047302..144050208-chr3:144050986..144053451,2	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	rs552274935	chr3:144051642-144051643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182896111	chr3:144051650-144051651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186727119	chr3:144051716-144051717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549744306	chr3:144051724-144051725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553667362	chr3:144051725-144051726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs197826	chr3:144051770-144051771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539698253	chr3:144051778-144051779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148577204	chr3:144051791-144051792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142967697	chr3:144051822-144051823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76708550	chr3:144051826-144051827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12634939	chr3:144051833-144051834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552956499	chr3:144051904-144051905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577256908	chr3:144051966-144051967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116642075	chr3:144051993-144051994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114036054	chr3:144052015-144052016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574920674	chr3:144052048-144052049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140090068	chr3:144052126-144052127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560790718	chr3:144052145-144052146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527842329	chr3:144052151-144052152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576375718	chr3:144052171-144052172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149915260	chr3:144052193-144052194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557928104	chr3:144052403-144052404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576185499	chr3:144052421-144052422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538321526	chr3:144052507-144052508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556397372	chr3:144052526-144052527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs197827	chr3:144052546-144052547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574305113	chr3:144052612-144052613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373291401	chr3:144052618-144052619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182904081	chr3:144052639-144052640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572768861	chr3:144052675-144052676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546227945	chr3:144052679-144052680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375602004	chr3:144052687-144052688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531824780	chr3:144052713-144052714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570344926	chr3:144052780-144052781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549817957	chr3:144052786-144052787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561448500	chr3:144052800-144052801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188319282	chr3:144052808-144052809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115708958	chr3:144052833-144052834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139675701	chr3:144052838-144052839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533233486	chr3:144052855-144052856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531957034	chr3:144052863-144052864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559968994	chr3:144052949-144052950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533481619	chr3:144052983-144052984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72999962	chr3:144053030-144053031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs57176920	chr3:144053112-144053113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191159136	chr3:144053174-144053175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182205171	chr3:144053235-144053236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556648711	chr3:144053237-144053238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141013014	chr3:144053247-144053248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144744943	chr3:144053340-144053341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144051600-144052200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:144051600-144052200	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:144052400-144052600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:144052600-144053600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:144053600-144054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:144054000-144055200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links