Variant report

Variant	nsv520979
Chromosome Location	chr3:97934241-97937045
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	MAZ	chr3:97934266-97934355	HepG2	liver:	n/a	n/a
2	RFX5	chr3:97936494-97936664	GM12878	blood:	n/a	n/a
3	SPI1	chr3:97933865-97934268	HL-60	blood:	n/a	chr3:97934017-97934030 chr3:97934020-97934027 chr3:97934094-97934107
4	STAT3	chr3:97935467-97935621	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
OR5H4P	TF binding region

Extended variants
information (count: 158 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9821499	chr3:97934241-97934242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572479214	chr3:97934242-97934243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150017328	chr3:97934259-97934260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563982002	chr3:97934272-97934273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532971431	chr3:97934273-97934274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375511431	chr3:97934274-97934275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573714165	chr3:97934296-97934297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545329918	chr3:97934318-97934319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111536159	chr3:97934350-97934351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372819535	chr3:97934351-97934352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73853707	chr3:97934360-97934361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73853708	chr3:97934369-97934370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs55956513	chr3:97934382-97934383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183087250	chr3:97934441-97934442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528241246	chr3:97934489-97934490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112529340	chr3:97934511-97934512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545007214	chr3:97934516-97934517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11720576	chr3:97934521-97934522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112444001	chr3:97934528-97934529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570288713	chr3:97934542-97934543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187423511	chr3:97934559-97934560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113707559	chr3:97934567-97934568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555527692	chr3:97934604-97934605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199919699	chr3:97934611-97934612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78591056	chr3:97934612-97934613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572200113	chr3:97934618-97934619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541087845	chr3:97934619-97934620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55655921	chr3:97934649-97934650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192073359	chr3:97934680-97934681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11708500	chr3:97934693-97934694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543266056	chr3:97934698-97934699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183526175	chr3:97934716-97934717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531784251	chr3:97934718-97934719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188742447	chr3:97934744-97934745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34979809	chr3:97934747-97934748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141083499	chr3:97934763-97934764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6439692	chr3:97934799-97934800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542605064	chr3:97934809-97934810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192813228	chr3:97934810-97934811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528101510	chr3:97934854-97934855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16839374	chr3:97934902-97934903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs386663710	chr3:97934918-97934919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142598958	chr3:97934919-97934920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1497533	chr3:97934961-97934962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565900523	chr3:97935000-97935001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570328908	chr3:97935064-97935065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147990147	chr3:97935102-97935103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535816235	chr3:97935113-97935114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549662664	chr3:97935118-97935119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1497534	chr3:97935125-97935126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97928200-97936800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:97932800-97936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:97933800-97938000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:97934000-97934400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:97936200-97936800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:97936800-97937600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:97936800-97937800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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