Variant report

Variant	nsv963330
Chromosome Location	chr3:75262376-75265142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:75263875-75263976	Kidney_OC	kidney:	n/a	n/a
2	GABPA	chr3:75263556-75263724	HepG2	liver:	n/a	n/a
3	GABPA	chr3:75263572-75263719	HepG2	liver:	n/a	n/a
4	HEY1	chr3:75263539-75263917	HepG2	liver:	n/a	chr3:75263715-75263730
5	HEY1	chr3:75263543-75263819	HepG2	liver:	n/a	chr3:75263715-75263730
6	HEY1	chr3:75263894-75264016	HepG2	liver:	n/a	n/a
7	HEY1	chr3:75263533-75264405	K562	blood:	n/a	chr3:75263715-75263730
8	HEY1	chr3:75263559-75263862	K562	blood:	n/a	chr3:75263715-75263730
9	JUND	chr3:75263591-75263719	HepG2	liver:	n/a	n/a
10	MYC	chr3:75263524-75263696	MCF-7	breast:	n/a	chr3:75263622-75263631 chr3:75263622-75263631 chr3:75263617-75263636 chr3:75263622-75263631
11	MYC	chr3:75263558-75263797	HepG2	liver:	n/a	chr3:75263622-75263631 chr3:75263622-75263631 chr3:75263617-75263636 chr3:75263622-75263631
12	MYC	chr3:75263565-75263679	MCF-7	breast:	n/a	chr3:75263622-75263631 chr3:75263622-75263631 chr3:75263617-75263636 chr3:75263622-75263631
13	MYC	chr3:75263517-75263778	K562	blood:	n/a	chr3:75263622-75263631 chr3:75263622-75263631 chr3:75263617-75263636 chr3:75263622-75263631
14	MYC	chr3:75263598-75263677	HUVEC	blood vessel:	n/a	chr3:75263622-75263631 chr3:75263622-75263631 chr3:75263617-75263636 chr3:75263622-75263631
15	PAX5	chr3:75263551-75263732	GM12878	blood:	n/a	chr3:75263644-75263653
16	PBX3	chr3:75263877-75264002	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:75263573-75263734	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:75264395-75264668	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr3:75263379-75264010	K562	blood:	n/a	n/a
20	POLR2A	chr3:75263908-75264030	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr3:75263499-75264578	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr3:75263483-75263925	ProgFib	skin:	n/a	n/a
23	POLR2A	chr3:75263528-75263775	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr3:75263499-75263849	MCF-7	breast:	n/a	n/a
25	POLR2A	chr3:75263588-75263732	HepG2	liver:	n/a	n/a
26	POLR2A	chr3:75263553-75263858	GM12891	blood:	n/a	n/a
27	POLR2A	chr3:75264410-75264632	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr3:75264373-75264394	K562	blood:	n/a	n/a
29	POLR2A	chr3:75263576-75263774	A549	lung:	n/a	n/a
30	POLR2A	chr3:75263568-75264941	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:75263561-75263817	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr3:75263581-75263789	GM12891	blood:	n/a	n/a
33	POLR2A	chr3:75263634-75263949	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:75263525-75263905	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr3:75263517-75264870	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:75263557-75264090	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr3:75263566-75264021	GM12891	blood:	n/a	n/a
38	POLR2A	chr3:75263578-75263732	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr3:75263505-75264299	GM12892	blood:	n/a	n/a
40	POLR2A	chr3:75263551-75263845	A549	lung:	n/a	n/a
41	POLR2A	chr3:75263477-75263774	Gliobla	brain:	n/a	n/a
42	POLR2A	chr3:75263560-75264142	GM12892	blood:	n/a	n/a
43	POLR2A	chr3:75263413-75263919	MCF-7	breast:	n/a	n/a
44	POLR2A	chr3:75263521-75263819	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr3:75263443-75263948	HepG2	liver:	n/a	n/a
46	POLR2A	chr3:75263442-75264015	MCF-7	breast:	n/a	n/a
47	POLR2A	chr3:75263570-75263807	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:75263546-75264119	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr3:75263554-75263870	GM12891	blood:	n/a	n/a
50	POLR2A	chr3:75263485-75263838	HepG2	liver:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:75263685-75263735	HMEC	breast:	n/a
2	chr3:75263685-75263735	HMEC	breast:	n/a
3	chr3:75263626-75263676	Jurkat	blood:	n/a
4	chr3:75263691-75263741	K562	blood:	n/a
5	chr3:75263641-75263691	GM06990	blood:	n/a
6	chr3:75263619-75263669	AoSMC	blood vessel:	n/a
7	chr3:75263619-75263669	HUVEC	blood vessel:	n/a
8	chr3:75263691-75263741	AG04450	lung:	fetal
9	chr3:75263685-75263735	PFSK-1	brain:	n/a
10	chr3:75263691-75263741	GM12892	blood:	n/a
11	chr3:75263685-75263735	HCM	heart:	n/a
12	chr3:75263641-75263691	GM12892	blood:	n/a
13	chr3:75263641-75263691	SKMC	muscle:	n/a
14	chr3:75263685-75263735	Hepatocyte	liver:	n/a
15	chr3:75263619-75263669	SAEC	small airway:	n/a
16	chr3:75263691-75263741	AG04449	skin:	fetal
17	chr3:75263691-75263741	HEEpiC	esophagus:	n/a
18	chr3:75263619-75263669	U87	brain:	n/a
19	chr3:75263691-75263741	NH-A	brain:	n/a
20	chr3:75263619-75263669	AG10803	skin:	n/a
21	chr3:75263691-75263741	MCF-7	breast:	n/a
22	chr3:75263626-75263676	HepG2	liver:	n/a
23	chr3:75263641-75263691	HIPEpiC	eye:	n/a
24	chr3:75263691-75263741	LNCaP	prostate:	n/a
25	chr3:75263626-75263676	PANC-1	pancreas:	n/a
26	chr3:75263685-75263735	HCPEpiC	choroid plexus:	n/a
27	chr3:75263685-75263735	NHDF-neo	bronchial:	n/a
28	chr3:75263626-75263676	HEK293	kidney:	embryo
29	chr3:75263691-75263741	T-47D	breast:	n/a
30	chr3:75263641-75263691	HAEpiC	amniotic membrane:	n/a
31	chr3:75263685-75263735	Caco-2	colon:	n/a
32	chr3:75263691-75263741	HCPEpiC	choroid plexus:	n/a
33	chr3:75263691-75263741	HRPEpiC	eye:	n/a
34	chr3:75263641-75263691	IMR90	lung:	fetal
35	chr3:75263691-75263741	U87	brain:	n/a
36	chr3:75263619-75263669	AG09319	gingival:	n/a
37	chr3:75263691-75263741	HL-60	blood:	n/a
38	chr3:75263685-75263735	H1-hESC	embryonic stem cell:	embryo
39	chr3:75263619-75263669	A549	lung:	n/a
40	chr3:75263685-75263735	HRE	kidney:	n/a
41	chr3:75263619-75263669	AG09309	skin:	n/a
42	chr3:75263626-75263676	GM12892	blood:	n/a
43	chr3:75263626-75263676	HRCEpiC	kidney:	n/a
44	chr3:75263685-75263735	NHBE	bronchial:	n/a
45	chr3:75263685-75263735	AG04450	lung:	fetal
46	chr3:75263619-75263669	ovcar-3	ovarian:	n/a
47	chr3:75263626-75263676	HRPEpiC	eye:	n/a
48	chr3:75263685-75263735	HRPEpiC	eye:	n/a
49	chr3:75263619-75263669	ProgFib	skin:	n/a
50	chr3:75263619-75263669	HRE	kidney:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF717-7	chr3:75264644-75264868	NONHSAT090504
2	lnc-ZNF717-7	chr3:75264616-75264635	NONHSAT090504
3	lnc-ZNF717-7	chr3:75264310-75264481	NONHSAT090504

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4444	chr3:75263669-75263686	MIMAT0018962_1

No data

Variant related genes	Relation type
HNRNPA3P6	TF binding region
MIR4444-1	TF binding region
HNRNPA3P6	CpG island
MIR4444-1	CpG island

Extended variants
information (count: 65 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144273061	chr3:75263385-75263386	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs377334377	chr3:75263451-75263452	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs546133233	chr3:75263498-75263499	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs564405715	chr3:75263504-75263505	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs536371916	chr3:75263537-75263538	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs528372457	chr3:75263546-75263547	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs540467508	chr3:75263621-75263622	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
8	rs561724050	chr3:75263622-75263623	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
9	rs370703146	chr3:75263632-75263633	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs530222336	chr3:75263638-75263639	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs148735771	chr3:75263641-75263642	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs142357696	chr3:75263682-75263683	Inactive region	TF binding region CpG island miRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs530782601	chr3:75263684-75263685	Inactive region	TF binding region CpG island miRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs552140862	chr3:75263686-75263687	Inactive region	TF binding region CpG island miRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs570840323	chr3:75263715-75263716	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs7635785	chr3:75263722-75263723	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs553537851	chr3:75263745-75263746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs571161638	chr3:75263746-75263747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568512006	chr3:75263759-75263760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs191382204	chr3:75263763-75263764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs367937542	chr3:75263780-75263781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556745334	chr3:75263791-75263792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs575394180	chr3:75263816-75263817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370904250	chr3:75263847-75263848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs545842028	chr3:75263881-75263882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs536886969	chr3:75263926-75263927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs375128637	chr3:75263934-75263935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557102829	chr3:75263939-75263940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540115182	chr3:75263956-75263957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561923348	chr3:75263961-75263962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs183467903	chr3:75263993-75263994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs55902535	chr3:75264000-75264001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs151237210	chr3:75264054-75264055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs548331553	chr3:75264100-75264101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs563477200	chr3:75264109-75264110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs530893159	chr3:75264110-75264111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs187355208	chr3:75264113-75264114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570469940	chr3:75264122-75264123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs528783106	chr3:75264130-75264131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs546947371	chr3:75264157-75264158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568653282	chr3:75264164-75264165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs535702834	chr3:75264203-75264204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs557566779	chr3:75264250-75264251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs569020211	chr3:75264301-75264302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs56181449	chr3:75264329-75264330	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs539530547	chr3:75264376-75264377	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs368791699	chr3:75264378-75264379	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs572830148	chr3:75264389-75264390	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs528929330	chr3:75264419-75264420	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs62261015	chr3:75264421-75264422	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links