Variant report

Variant	nsv598460
Chromosome Location	chr5:68873708-68896457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:68875399-68875502	Medullo	brain:	n/a	n/a
2	CTCF	chr5:68883919-68883967	Medullo	brain:	n/a	n/a
3	CTCF	chr5:68890705-68890753	Medullo	brain:	n/a	n/a
4	CTCF	chr5:68890437-68890536	LNCaP	prostate:	n/a	n/a
5	CTCF	chr5:68874019-68874078	GM10248	blood:	n/a	n/a
6	EBF1	chr5:68879258-68879506	GM12878	blood:	n/a	n/a
7	EBF1	chr5:68879238-68879448	GM12878	blood:	n/a	n/a
8	FOXA1	chr5:68890145-68890685	HepG2	liver:	n/a	n/a
9	GATA2	chr5:68890239-68890673	K562	blood:	n/a	n/a
10	PAX5	chr5:68893776-68894058	GM12878	blood:	n/a	n/a
11	PAX5	chr5:68893616-68894118	GM12878	blood:	n/a	n/a
12	PAX5	chr5:68893841-68894044	GM12878	blood:	n/a	n/a
13	PAX5	chr5:68893698-68894079	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:68891828-68893113	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:68891791-68892232	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:68891787-68893166	GM12892	blood:	n/a	n/a
17	POLR2A	chr5:68892713-68893156	GM12891	blood:	n/a	n/a
18	POLR2A	chr5:68892839-68893136	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:68892817-68893077	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:68890206-68890580	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:68884161-68884488	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:68891914-68892609	GM12891	blood:	n/a	n/a
23	POLR2A	chr5:68894404-68894609	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:68891742-68892643	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:68879064-68879548	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:68892679-68893165	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:68891756-68892660	GM12892	blood:	n/a	n/a
28	POLR2A	chr5:68892313-68892719	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:68891742-68893147	GM12892	blood:	n/a	n/a
30	POLR2A	chr5:68892676-68893105	GM12891	blood:	n/a	n/a
31	POLR2A	chr5:68891834-68892002	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr5:68891700-68893164	GM12892	blood:	n/a	n/a
33	POU2F2	chr5:68892747-68893096	GM12878	blood:	n/a	n/a
34	TCF12	chr5:68893867-68894050	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2C-1	chr5:68889300-68889532	NONHSAT101931
2	lnc-GTF2H2C-1	chr5:68890071-68890550	NONHSAT101931

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GTF2H2D	hsa-miR-30a-5p	chr5:68888221-68888242

Variant related genes	Relation type
GTF2H2C	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571166619	chr5:68873740-68873741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79086191	chr5:68874513-68874514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62374265	chr5:68874943-68874944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371659095	chr5:68875616-68875617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532087382	chr5:68875639-68875640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376202089	chr5:68875651-68875652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551310033	chr5:68875685-68875686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569554753	chr5:68875686-68875687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536862328	chr5:68875690-68875691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201271819	chr5:68875691-68875692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555195802	chr5:68875710-68875711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566994828	chr5:68875735-68875736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534044325	chr5:68875943-68875944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs162955	chr5:68875960-68875961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558961930	chr5:68875987-68875988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577188485	chr5:68876581-68876582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3106290	chr5:68876635-68876636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551145669	chr5:68876641-68876642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544166608	chr5:68876687-68876688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556872520	chr5:68876711-68876712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199887403	chr5:68876910-68876911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75829006	chr5:68877091-68877092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575174041	chr5:68877286-68877287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542461231	chr5:68877301-68877302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs257509	chr5:68877335-68877336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199857838	chr5:68878277-68878278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113108396	chr5:68878284-68878285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528252649	chr5:68878285-68878286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539957586	chr5:68878286-68878287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113076805	chr5:68878768-68878769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564967144	chr5:68880512-68880513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532042612	chr5:68880571-68880572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5012305	chr5:68880729-68880730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs483294	chr5:68880827-68880828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377112207	chr5:68882560-68882561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532793916	chr5:68882889-68882890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550572147	chr5:68882934-68882935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527407623	chr5:68883457-68883458	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79758696	chr5:68883552-68883553	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569614317	chr5:68883553-68883554	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530406116	chr5:68883573-68883574	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201041583	chr5:68883633-68883634	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547436933	chr5:68884142-68884143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62374266	chr5:68885014-68885015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62374267	chr5:68885316-68885317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372547184	chr5:68885617-68885618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78119549	chr5:68885670-68885671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548858608	chr5:68885868-68885869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566955387	chr5:68885870-68885871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377235391	chr5:68885958-68885959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68857000-68878200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:68857000-68883400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:68869200-68879000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:68883400-68883800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:68883800-68886000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:68892000-68892200	Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr5:68892200-68892400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr5:68892600-68894000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:68896200-68901400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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