Variant report

Variant	esv3426070
Chromosome Location	chr5:99509602-99537005
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	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:
2	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:

Extended variants
information (count: 455 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546271336	chr5:99509802-99509803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11952192	chr5:99509812-99509813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11952934	chr5:99509815-99509816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548584466	chr5:99509838-99509839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386690474	chr5:99509854-99509855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11952199	chr5:99509858-99509859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529503281	chr5:99509889-99509890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377248356	chr5:99509899-99509900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145304045	chr5:99509917-99509918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532924884	chr5:99509929-99509930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570001630	chr5:99509978-99509979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6595045	chr5:99509998-99509999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11949528	chr5:99510016-99510017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369048004	chr5:99510096-99510097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62387063	chr5:99510137-99510138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554232892	chr5:99510139-99510140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113342587	chr5:99510140-99510141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11358221	chr5:99510153-99510154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554219045	chr5:99510213-99510214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73774588	chr5:99510238-99510239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536895723	chr5:99510251-99510252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181784428	chr5:99510253-99510254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537549821	chr5:99510259-99510260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552794999	chr5:99510262-99510263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79508143	chr5:99510290-99510291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368754733	chr5:99510334-99510335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140682172	chr5:99510336-99510337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72771028	chr5:99510366-99510367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs57716259	chr5:99510375-99510376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558251724	chr5:99510433-99510434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112980406	chr5:99510442-99510443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7712846	chr5:99510443-99510444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150096905	chr5:99510490-99510491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553583680	chr5:99510496-99510497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76171382	chr5:99510521-99510522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201195821	chr5:99510524-99510525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544001440	chr5:99510603-99510604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7713150	chr5:99510605-99510606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117848647	chr5:99510607-99510608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541315048	chr5:99510653-99510654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57191091	chr5:99510662-99510663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111979239	chr5:99510670-99510671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186341491	chr5:99510677-99510678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145507518	chr5:99510700-99510701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59771332	chr5:99510736-99510737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191679476	chr5:99510756-99510757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528466420	chr5:99510776-99510777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60398983	chr5:99510794-99510795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567461306	chr5:99510819-99510820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140313533	chr5:99510820-99510821	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99509800-99510200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:99510200-99510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:99510600-99512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:99510800-99511800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:99510800-99512000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:99512200-99517400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:99517600-99517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:99521400-99523000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:99521600-99522800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:99521600-99523200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:99521800-99522400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:99521800-99522800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:99521800-99523000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:99521800-99523200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:99522000-99522400	Enhancers	HUES48 Cell Line	embryonic stem cell

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