Variant report

Variant	nsv515944
Chromosome Location	chr5:97381223-97394232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 281 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17706067	chr5:97381223-97381224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547456384	chr5:97381234-97381235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565813416	chr5:97381245-97381246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77635145	chr5:97381250-97381251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184188038	chr5:97381251-97381252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75997003	chr5:97381258-97381259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537700232	chr5:97381273-97381274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556429685	chr5:97381289-97381290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571135473	chr5:97381306-97381307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79108602	chr5:97381362-97381363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536006344	chr5:97381365-97381366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11744059	chr5:97381374-97381375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375790106	chr5:97381438-97381439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568278248	chr5:97381512-97381513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553833915	chr5:97381514-97381515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572157711	chr5:97381537-97381538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187049340	chr5:97381556-97381557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368784720	chr5:97381568-97381569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564521629	chr5:97381579-97381580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75683775	chr5:97381584-97381585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543719035	chr5:97381589-97381590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191041627	chr5:97381637-97381638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35539352	chr5:97381648-97381649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150486529	chr5:97381651-97381652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529569425	chr5:97381662-97381663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75602370	chr5:97381701-97381702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565776649	chr5:97381704-97381705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78905849	chr5:97381711-97381712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551852547	chr5:97381734-97381735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374617581	chr5:97381739-97381740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182120779	chr5:97381779-97381780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368989012	chr5:97381790-97381791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs257217	chr5:97381797-97381798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568341998	chr5:97381850-97381851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186753502	chr5:97381872-97381873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191934185	chr5:97381881-97381882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572054163	chr5:97381895-97381896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545534767	chr5:97382002-97382003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182591996	chr5:97382009-97382010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572508945	chr5:97382010-97382011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138302455	chr5:97382035-97382036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543973534	chr5:97382116-97382117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187623055	chr5:97382121-97382122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529533129	chr5:97382134-97382135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570505252	chr5:97382173-97382174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149617555	chr5:97382182-97382183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80131687	chr5:97382222-97382223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371202705	chr5:97382247-97382248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145036248	chr5:97382357-97382358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533368709	chr5:97382359-97382360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Basal cell lymphoma	17053054	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
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97378800-97384000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97384000-97385000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97384400-97385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:97384400-97388800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:97385000-97385200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:97385000-97385400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:97385200-97385600	Enhancers	Stomach Mucosa	stomach
8	chr5:97385400-97387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:97385600-97386000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:97386000-97387000	Enhancers	HMEC	breast
11	chr5:97386000-97387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:97386200-97386400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:97386400-97386800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:97386800-97387600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:97387200-97387400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:97387200-97388200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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