Variant report

Variant	nsv969190
Chromosome Location	chr5:98883894-98892779
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	E2F4	chr5:98888097-98888385	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr5:98886931-98887116	SH-SY5Y	brain:	n/a	chr5:98886975-98886991 chr5:98886973-98886994
3	IRF1	chr5:98890457-98890538	K562	blood:	n/a	n/a
4	POLR2A	chr5:98891474-98891526	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr5:98884804-98885217	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-2	chr5:98885136-98885236	ENSG00000249515

Variant related genes	Relation type
ENSG00000249515	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188216256	chr5:98884816-98884817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574226774	chr5:98884818-98884819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs541741683	chr5:98884841-98884842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150242046	chr5:98884844-98884845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs1939402	chr5:98884847-98884848	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375701659	chr5:98884857-98884858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1939403	chr5:98884866-98884867	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191880192	chr5:98884946-98884947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs73776530	chr5:98884950-98884951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549116806	chr5:98885001-98885002	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs145836980	chr5:98885020-98885021	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs184175846	chr5:98885063-98885064	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2276037	chr5:98885161-98885162	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574305656	chr5:98885192-98885193	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs571238776	chr5:98885430-98885431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539417596	chr5:98885433-98885434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551496950	chr5:98885470-98885471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56930668	chr5:98885480-98885481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537150065	chr5:98885493-98885494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189239269	chr5:98885496-98885497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574274508	chr5:98885497-98885498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535266738	chr5:98885527-98885528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74734722	chr5:98885593-98885594	Enhancers	n/a	n/a	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98885000-98885600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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