Variant report

Variant	nsv967220
Chromosome Location	chr3:75228317-75235764
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	ATF2	chr3:75229597-75230101	GM12878	blood:	n/a	n/a
2	ATF2	chr3:75229570-75230214	GM12878	blood:	n/a	n/a
3	BATF	chr3:75229707-75230159	GM12878	blood:	n/a	n/a
4	BCL11A	chr3:75229688-75230088	GM12878	blood:	n/a	n/a
5	BCL11A	chr3:75229596-75230089	GM12878	blood:	n/a	n/a
6	BCL3	chr3:75229695-75230085	GM12878	blood:	n/a	n/a
7	BHLHE40	chr3:75229629-75230115	GM12878	blood:	n/a	n/a
8	CEBPB	chr3:75235119-75235256	H1-hESC	embryonic stem cell:	n/a	chr3:75235211-75235224
9	CHD1	chr3:75229450-75230366	GM12878	blood:	n/a	n/a
10	CHD2	chr3:75229546-75230156	GM12878	blood:	n/a	n/a
11	CTCF	chr3:75234810-75234907	Fibrobl	skin:	n/a	n/a
12	CTCF	chr3:75235320-75235470	Caco-2	colon:	n/a	n/a
13	CUX1	chr3:75229668-75230598	GM12878	blood:	n/a	n/a
14	E2F4	chr3:75229953-75230248	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr3:75230992-75231192	MCF10A-Er-Src	breast:	n/a	n/a
16	EBF1	chr3:75229681-75230102	GM12878	blood:	n/a	n/a
17	EBF1	chr3:75228164-75228418	GM12878	blood:	n/a	chr3:75228300-75228313 chr3:75228287-75228298 chr3:75228302-75228311 chr3:75228300-75228311
18	EBF1	chr3:75229662-75230112	GM12878	blood:	n/a	n/a
19	EBF1	chr3:75229447-75230359	GM12878	blood:	n/a	n/a
20	EBF1	chr3:75228133-75228496	GM12878	blood:	n/a	chr3:75228300-75228313 chr3:75228287-75228298 chr3:75228302-75228311 chr3:75228300-75228311
21	ELK1	chr3:75229702-75230084	GM12878	blood:	n/a	n/a
22	EP300	chr3:75229655-75230075	GM12878	blood:	n/a	n/a
23	EP300	chr3:75229552-75230379	GM12878	blood:	n/a	n/a
24	EP300	chr3:75229369-75230374	GM12878	blood:	n/a	n/a
25	ETS1	chr3:75229654-75229997	GM12878	blood:	n/a	n/a
26	FOXM1	chr3:75229571-75230205	GM12878	blood:	n/a	n/a
27	FOXM1	chr3:75229585-75230135	GM12878	blood:	n/a	n/a
28	GATA3	chr3:75230114-75230201	SH-SY5Y	brain:	n/a	n/a
29	IKZF1	chr3:75229540-75230313	GM12878	blood:	n/a	chr3:75230140-75230152
30	IRF4	chr3:75229564-75230061	GM12878	blood:	n/a	n/a
31	IRF4	chr3:75229609-75230142	GM12878	blood:	n/a	n/a
32	MAX	chr3:75229523-75230231	GM12878	blood:	n/a	n/a
33	MEF2A	chr3:75229639-75230133	GM12878	blood:	n/a	n/a
34	MEF2C	chr3:75229649-75230007	GM12878	blood:	n/a	n/a
35	MTA3	chr3:75229556-75230179	GM12878	blood:	n/a	n/a
36	MXI1	chr3:75229625-75230436	GM12878	blood:	n/a	n/a
37	NFE2	chr3:75228786-75228823	GM12878	blood:	n/a	n/a
38	NFIC	chr3:75229631-75230209	GM12878	blood:	n/a	n/a
39	NFYA	chr3:75229485-75229925	GM12878	blood:	n/a	chr3:75229719-75229732 chr3:75229720-75229730 chr3:75229717-75229732 chr3:75229721-75229733 chr3:75229717-75229732 chr3:75229720-75229730 chr3:75229718-75229732
40	NFYB	chr3:75229463-75230010	GM12878	blood:	n/a	chr3:75229719-75229732 chr3:75229720-75229730 chr3:75229717-75229732 chr3:75229721-75229733 chr3:75229717-75229732 chr3:75229720-75229730 chr3:75229718-75229732
41	PAX5	chr3:75229714-75230031	GM12878	blood:	n/a	n/a
42	PAX5	chr3:75229707-75229990	GM12878	blood:	n/a	n/a
43	PAX5	chr3:75229669-75229992	GM12878	blood:	n/a	n/a
44	PAX5	chr3:75229535-75230163	GM12878	blood:	n/a	n/a
45	PML	chr3:75229513-75230220	GM12878	blood:	n/a	n/a
46	POLR2A	chr3:75228538-75228588	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr3:75229242-75230274	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:75229391-75230169	GM12878	blood:	n/a	n/a
49	POLR2A	chr3:75229352-75230094	GM12892	blood:	n/a	n/a
50	POLR2A	chr3:75229515-75230147	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:75225822..75228445-chr3:75228843..75230349,2	MCF-7	breast:
2	chr3:75225822..75228445-chr3:75228843..75230349,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF717-8	chr3:75231907-75232199	NONHSAT090502

Variant related genes	Relation type
RN7SL294P	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115116261	chr3:75228343-75228344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149104912	chr3:75228348-75228349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4076738	chr3:75228373-75228374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573861415	chr3:75228411-75228412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28454928	chr3:75228431-75228432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557167645	chr3:75228446-75228447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142229822	chr3:75228457-75228458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545829321	chr3:75228508-75228509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564460184	chr3:75228640-75228641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151184361	chr3:75228656-75228657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540509519	chr3:75228660-75228661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568954060	chr3:75228697-75228698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185262297	chr3:75228728-75228729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77515301	chr3:75228737-75228738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190540019	chr3:75228747-75228748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140297359	chr3:75228799-75228800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7630321	chr3:75228860-75228861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10222613	chr3:75228876-75228877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182218445	chr3:75228925-75228926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569376295	chr3:75228945-75228946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184350275	chr3:75228978-75228979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188184617	chr3:75228991-75228992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181336884	chr3:75229033-75229034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528866505	chr3:75229091-75229092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549299180	chr3:75229102-75229103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4078307	chr3:75229125-75229126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs75204511	chr3:75229143-75229144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146955684	chr3:75229210-75229211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185841967	chr3:75229235-75229236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539833286	chr3:75229272-75229273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557761691	chr3:75229275-75229276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572879483	chr3:75229366-75229367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540571043	chr3:75229374-75229375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562033201	chr3:75229387-75229388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141944593	chr3:75229608-75229609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145797922	chr3:75229634-75229635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564496986	chr3:75229646-75229647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567403336	chr3:75229647-75229648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538064907	chr3:75229663-75229664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115565041	chr3:75229688-75229689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571401295	chr3:75229730-75229731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113320057	chr3:75229749-75229750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557826959	chr3:75229841-75229842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574138015	chr3:75229843-75229844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138393431	chr3:75230005-75230006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533891573	chr3:75230014-75230015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556049544	chr3:75230070-75230071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113842580	chr3:75230071-75230072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4513474	chr3:75230116-75230117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372695137	chr3:75230138-75230139	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75226600-75229200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:75228200-75228800	Enhancers	Brain Germinal Matrix	brain
3	chr3:75229200-75229400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:75229600-75230000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:75229600-75230400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:75230000-75230400	Enhancers	NH-A	brain
7	chr3:75234800-75235200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr3:75235200-75237800	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links