Variant report

Variant	nsv819857
Chromosome Location	chr5:146619761-146623148
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	chr5:146617599..146619376-chr5:146621089..146623393,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371160889	chr5:146619776-146619777	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144030127	chr5:146619792-146619793	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529204452	chr5:146619798-146619799	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76809942	chr5:146619801-146619802	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569151783	chr5:146619802-146619803	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139897441	chr5:146619824-146619825	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143379597	chr5:146619832-146619833	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548447737	chr5:146619841-146619842	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78716622	chr5:146619866-146619867	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533604878	chr5:146619873-146619874	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553749828	chr5:146619876-146619877	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561963272	chr5:146619889-146619890	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75372291	chr5:146619915-146619916	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34787967	chr5:146619919-146619920	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555689093	chr5:146619925-146619926	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575525159	chr5:146619926-146619927	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544413217	chr5:146619958-146619959	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564478135	chr5:146619975-146619976	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72822028	chr5:146619978-146619979	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537060280	chr5:146619986-146619987	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58059255	chr5:146620051-146620052	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs891898	chr5:146620082-146620083	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs368003936	chr5:146620110-146620111	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533421242	chr5:146620155-146620156	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529334297	chr5:146620228-146620229	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146686748	chr5:146620255-146620256	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112802747	chr5:146620258-146620259	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531595145	chr5:146620303-146620304	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547018104	chr5:146620322-146620323	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142501996	chr5:146620323-146620324	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57799250	chr5:146620328-146620329	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566844366	chr5:146620386-146620387	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547207316	chr5:146620396-146620397	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567330070	chr5:146620401-146620402	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535887279	chr5:146620443-146620444	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557378356	chr5:146620468-146620469	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555703128	chr5:146620514-146620515	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150938453	chr5:146620540-146620541	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538123749	chr5:146620612-146620613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73326965	chr5:146620674-146620675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs578135992	chr5:146620688-146620689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112126005	chr5:146620694-146620695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371497432	chr5:146620734-146620735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6874352	chr5:146620754-146620755	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555732378	chr5:146620779-146620780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560428215	chr5:146620780-146620781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574172161	chr5:146620813-146620814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11167964	chr5:146620817-146620818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562823379	chr5:146620842-146620843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531659332	chr5:146620847-146620848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146615000-146620800	Weak transcription	Psoas Muscle	Psoas
2	chr5:146615000-146621600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:146615200-146621400	Weak transcription	Aorta	Aorta
4	chr5:146616400-146619800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:146616400-146628000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:146618800-146619800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:146619000-146624200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:146619400-146620000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:146619400-146620400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:146619600-146620000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:146619600-146620200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:146619600-146620400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:146619800-146620000	Enhancers	Gastric	stomach
14	chr5:146619800-146620200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:146619800-146620200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:146619800-146620400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:146619800-146620400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:146619800-146620400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:146619800-146620400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:146619800-146620600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:146620000-146620400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:146620000-146621600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:146620400-146621600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:146621600-146621800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:146621600-146622000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:146621600-146622200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:146622200-146640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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