Variant report

Variant	nsv516081
Chromosome Location	chr3:133399702-133412094
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	chr3:133410308-133410508	HepG2	liver:	n/a	n/a
2	CEBPB	chr3:133410253-133410671	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr3:133410311-133410602	IMR90	lung:	n/a	n/a
4	E2F4	chr3:133410337-133410537	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr3:133410288-133410592	Hela-S3	cervix:	n/a	n/a
6	FOS	chr3:133410261-133410644	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr3:133410294-133410631	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr3:133410247-133410631	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr3:133410275-133410644	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr3:133400302-133400617	HepG2	liver:	n/a	n/a
11	FOXA2	chr3:133400309-133400714	A549	lung:	n/a	n/a
12	GABPA	chr3:133402693-133402831	Hela-S3	cervix:	n/a	n/a
13	MAX	chr3:133410298-133410534	Hela-S3	cervix:	n/a	n/a
14	MYC	chr3:133410320-133410570	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr3:133407525-133407670	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr3:133408984-133409062	MCF10A-Er-Src	breast:	n/a	n/a
17	RAD21	chr3:133410306-133410543	Hela-S3	cervix:	n/a	n/a
18	RCOR1	chr3:133410302-133410513	Hela-S3	cervix:	n/a	n/a
19	STAT3	chr3:133410322-133410593	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr3:133410331-133410644	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr3:133410315-133410667	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr3:133410308-133410747	MCF10A-Er-Src	breast:	n/a	n/a
23	USF1	chr3:133410209-133410413	HepG2	liver:	n/a	chr3:133410320-133410331
24	USF2	chr3:133410076-133410516	Hela-S3	cervix:	n/a	chr3:133410320-133410331
25	USF2	chr3:133410162-133410438	HepG2	liver:	n/a	chr3:133410320-133410331
26	ZNF143	chr3:133410172-133410451	Hela-S3	cervix:	n/a	n/a
27	ZNF263	chr3:133410124-133410566	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
TFP1	TF binding region

Extended variants
information (count: 531 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2718812	chr3:133399702-133399703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs531629353	chr3:133399706-133399707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562961555	chr3:133399737-133399738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2718811	chr3:133399738-133399739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545570883	chr3:133399763-133399764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146306022	chr3:133399784-133399785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79097140	chr3:133399799-133399800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527954778	chr3:133399827-133399828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9839156	chr3:133399880-133399881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192801660	chr3:133399891-133399892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528865433	chr3:133399957-133399958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114979188	chr3:133400037-133400038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568605939	chr3:133400038-133400039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368866453	chr3:133400097-133400098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537662374	chr3:133400112-133400113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561173903	chr3:133400113-133400114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34672862	chr3:133400121-133400122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144294720	chr3:133400122-133400123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539980828	chr3:133400170-133400171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375207908	chr3:133400174-133400175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553767321	chr3:133400176-133400177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112922098	chr3:133400207-133400208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547596042	chr3:133400208-133400209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139765390	chr3:133400215-133400216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149728169	chr3:133400219-133400220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184273658	chr3:133400231-133400232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368755055	chr3:133400232-133400233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2718810	chr3:133400241-133400242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565449495	chr3:133400261-133400262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572523860	chr3:133400306-133400307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189219487	chr3:133400307-133400308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6787450	chr3:133400309-133400310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182255944	chr3:133400315-133400316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548664237	chr3:133400330-133400331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148908845	chr3:133400381-133400382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531280521	chr3:133400385-133400386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551041479	chr3:133400406-133400407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571145461	chr3:133400415-133400416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145278211	chr3:133400422-133400423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186507507	chr3:133400438-133400439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111522272	chr3:133400439-133400440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536659172	chr3:133400451-133400452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556561480	chr3:133400471-133400472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141915980	chr3:133400492-133400493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539162278	chr3:133400493-133400494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145767334	chr3:133400503-133400504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572637834	chr3:133400507-133400508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375832226	chr3:133400525-133400526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541260256	chr3:133400594-133400595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138767454	chr3:133400609-133400610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133393800-133406800	Weak transcription	Brain Substantia Nigra	brain
2	chr3:133406800-133407200	Enhancers	Brain Substantia Nigra	brain
3	chr3:133406800-133407200	Enhancers	HepG2	liver
4	chr3:133407000-133407200	ZNF genes & repeats	Left Ventricle	heart
5	chr3:133407200-133409600	Weak transcription	Left Ventricle	heart
6	chr3:133407200-133410200	Weak transcription	HepG2	liver
7	chr3:133409600-133410400	Enhancers	Pancreas	Pancrea
8	chr3:133410200-133410400	Enhancers	Right Atrium	heart
9	chr3:133410200-133410800	Enhancers	HepG2	liver
10	chr3:133410800-133412000	Weak transcription	HepG2	liver
11	chr3:133411800-133430800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:133412000-133415000	Enhancers	HepG2	liver

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