Variant report

Variant	nsv964911
Chromosome Location	chr5:98831308-98857270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:98836275-98836477	HepG2	liver:	n/a	chr5:98836412-98836423 chr5:98836442-98836453
2	CTCF	chr5:98842685-98842741	GM20000	blood:	n/a	n/a
3	CTCF	chr5:98852987-98853032	Medullo	brain:	n/a	n/a
4	CTCF	chr5:98852926-98853033	GM20000	blood:	n/a	n/a
5	CTCF	chr5:98853099-98853153	MCF-7	breast:	n/a	n/a
6	CTCF	chr5:98853033-98853050	Medullo	brain:	n/a	n/a
7	CTCF	chr5:98851786-98851820	Medullo	brain:	n/a	n/a
8	CTCF	chr5:98831941-98832025	Fibrobl	skin:	n/a	n/a
9	FOS	chr5:98846044-98846150	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr5:98846056-98846148	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr5:98846184-98846237	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr5:98845208-98845400	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:98831952-98831968	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:98852770-98853229	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:98831695-98831830	ProgFib	skin:	n/a	n/a
16	POLR2A	chr5:98846815-98846912	MCF-7	breast:	n/a	n/a
17	POLR2A	chr5:98832008-98832024	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:98831976-98832000	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:98831967-98831974	Gliobla	brain:	n/a	n/a
20	POLR2A	chr5:98831912-98832040	MCF-7	breast:	n/a	n/a
21	POLR2A	chr5:98851759-98851797	Gliobla	brain:	n/a	n/a
22	POLR2A	chr5:98855846-98855908	MCF-7	breast:	n/a	n/a
23	POLR2A	chr5:98846864-98846925	A549	lung:	n/a	n/a
24	POU2F2	chr5:98852856-98853194	GM12878	blood:	n/a	n/a
25	REST	chr5:98843896-98844057	PANC-1	pancreas:	n/a	n/a
26	REST	chr5:98854949-98854992	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr5:98843915-98844016	HepG2	liver:	n/a	n/a
28	SPI1	chr5:98837463-98837635	GM12891	blood:	n/a	n/a
29	SPI1	chr5:98853389-98853594	GM12878	blood:	n/a	n/a
30	SPI1	chr5:98837463-98837593	GM12878	blood:	n/a	n/a
31	SPI1	chr5:98837383-98837588	GM12891	blood:	n/a	n/a
32	SPI1	chr5:98851720-98851967	GM12891	blood:	n/a	chr5:98851905-98851914 chr5:98851866-98851873 chr5:98851903-98851916
33	SPI1	chr5:98837393-98837595	GM12878	blood:	n/a	n/a
34	SPI1	chr5:98853329-98853643	GM12891	blood:	n/a	n/a
35	SPI1	chr5:98853347-98853652	GM12891	blood:	n/a	n/a
36	SPI1	chr5:98853331-98853648	GM12878	blood:	n/a	n/a
37	SPI1	chr5:98851789-98851966	K562	blood:	n/a	chr5:98851905-98851914 chr5:98851866-98851873 chr5:98851903-98851916
38	STAT3	chr5:98846039-98846207	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr5:98846055-98846147	MCF10A-Er-Src	breast:	n/a	n/a
40	ZNF143	chr5:98844862-98845073	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-8	chr5:98834774-98835071	NONHSAT102979

Variant related genes	Relation type
ENSG00000249444	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554263209	chr5:98831730-98831731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs576027098	chr5:98831748-98831749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs543108708	chr5:98831917-98831918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376531573	chr5:98831924-98831925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149375560	chr5:98831944-98831945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577083573	chr5:98831978-98831979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529993437	chr5:98831992-98831993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548872277	chr5:98832005-98832006	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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