Variant report

Variant	nsv1050476
Chromosome Location	chr11:49841717-49862647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:49844365-49844744	GM12878	blood:	n/a	chr11:49844482-49844492
2	BATF	chr11:49851722-49851990	GM12878	blood:	n/a	n/a
3	BATF	chr11:49851774-49851972	GM12878	blood:	n/a	n/a
4	BATF	chr11:49844388-49844674	GM12878	blood:	n/a	chr11:49844482-49844492
5	BCL11A	chr11:49851712-49851919	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:49844437-49844676	GM12878	blood:	n/a	n/a
7	CEBPB	chr11:49856090-49856321	IMR90	lung:	n/a	chr11:49856132-49856143
8	CEBPB	chr11:49856078-49856257	A549	lung:	n/a	chr11:49856132-49856143
9	CEBPB	chr11:49856098-49856319	HepG2	liver:	n/a	chr11:49856132-49856143
10	CTCF	chr11:49859305-49859335	Medullo	brain:	n/a	n/a
11	CTCF	chr11:49846180-49846265	LNCaP	prostate:	n/a	n/a
12	CTCF	chr11:49846406-49846454	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr11:49851091-49851158	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:49851425-49851464	LNCaP	prostate:	n/a	n/a
15	CTCF	chr11:49849580-49849652	GM13976	blood:	n/a	n/a
16	CTCF	chr11:49858672-49858701	GM13976	blood:	n/a	n/a
17	CTCF	chr11:49849334-49849359	LNCaP	prostate:	n/a	n/a
18	CTCF	chr11:49846176-49846248	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:49849464-49849508	LNCaP	prostate:	n/a	n/a
20	CTCF	chr11:49845287-49845339	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:49851088-49851201	GM13976	blood:	n/a	n/a
22	CTCF	chr11:49858636-49858663	GM13976	blood:	n/a	n/a
23	CTCF	chr11:49843648-49843704	GM13976	blood:	n/a	n/a
24	CTCF	chr11:49846201-49846278	LNCaP	prostate:	n/a	n/a
25	CTCF	chr11:49856482-49856608	Medullo	brain:	n/a	n/a
26	CTCF	chr11:49858342-49858385	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:49859277-49859302	Medullo	brain:	n/a	n/a
28	CTCF	chr11:49851075-49851087	LNCaP	prostate:	n/a	n/a
29	CTCF	chr11:49851400-49851423	LNCaP	prostate:	n/a	n/a
30	CTCF	chr11:49846188-49846243	MCF-7	breast:	n/a	n/a
31	EBF1	chr11:49844434-49844808	GM12878	blood:	n/a	chr11:49844697-49844710 chr11:49844699-49844708 chr11:49844698-49844708 chr11:49844699-49844708 chr11:49844456-49844466
32	EBF1	chr11:49844397-49844840	GM12878	blood:	n/a	chr11:49844697-49844710 chr11:49844699-49844708 chr11:49844698-49844708 chr11:49844699-49844708 chr11:49844456-49844466
33	EBF1	chr11:49844335-49844888	GM12878	blood:	n/a	chr11:49844697-49844710 chr11:49844699-49844708 chr11:49844698-49844708 chr11:49844699-49844708 chr11:49844456-49844466
34	EP300	chr11:49844462-49844758	GM12878	blood:	n/a	n/a
35	IRF4	chr11:49844364-49844774	GM12878	blood:	n/a	n/a
36	PAX5	chr11:49844357-49844799	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:49849797-49849940	GM12878	blood:	n/a	n/a
38	SPI1	chr11:49851778-49851985	GM12891	blood:	n/a	n/a
39	SPI1	chr11:49851729-49851971	GM12878	blood:	n/a	n/a
40	TCF12	chr11:49844465-49844639	GM12878	blood:	n/a	chr11:49844526-49844533
41	TCF3	chr11:49844361-49844669	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49843431-49843481	AG04449	skin:	fetal
2	chr11:49843431-49843481	AG04449	skin:	fetal
3	chr11:49862012-49862062	HEEpiC	esophagus:	n/a
4	chr11:49843431-49843481	Hepatocyte	liver:	n/a
5	chr11:49843431-49843481	NT2-D1	testis:	n/a
6	chr11:49843431-49843481	HNPCEpiC	eye:	n/a
7	chr11:49843431-49843481	SK-N-SH	brain:	n/a
8	chr11:49862012-49862062	U87	brain:	n/a
9	chr11:49862012-49862062	HAEpiC	amniotic membrane:	n/a
10	chr11:49843431-49843481	BE2_C	brain:	n/a
11	chr11:49862012-49862062	SKMC	muscle:	n/a
12	chr11:49843431-49843481	GM12891	blood:	n/a
13	chr11:49843431-49843481	PFSK-1	brain:	n/a
14	chr11:49843431-49843481	Caco-2	colon:	n/a
15	chr11:49843431-49843481	HCT-116	colon:	n/a
16	chr11:49843431-49843481	CMK	blood:	n/a
17	chr11:49862012-49862062	AG10803	skin:	n/a
18	chr11:49862012-49862062	HCF	heart:	n/a
19	chr11:49843431-49843481	HRCEpiC	kidney:	n/a
20	chr11:49843431-49843481	ProgFib	skin:	n/a
21	chr11:49862012-49862062	HCPEpiC	choroid plexus:	n/a
22	chr11:49862012-49862062	HRPEpiC	eye:	n/a
23	chr11:49862012-49862062	BE2_C	brain:	n/a
24	chr11:49862012-49862062	Caco-2	colon:	n/a
25	chr11:49843431-49843481	AG09319	gingival:	n/a
26	chr11:49862012-49862062	A549	lung:	n/a
27	chr11:49862012-49862062	NHBE	bronchial:	n/a
28	chr11:49862012-49862062	HRCEpiC	kidney:	n/a
29	chr11:49843431-49843481	HepG2	liver:	n/a
30	chr11:49862012-49862062	HCT-116	colon:	n/a
31	chr11:49843431-49843481	SK-N-MC	brain:	n/a
32	chr11:49843431-49843481	MCF-7	breast:	n/a
33	chr11:49862012-49862062	AG09309	skin:	n/a
34	chr11:49862012-49862062	HEK293	kidney:	embryo
35	chr11:49843431-49843481	RPTEC	kidney:	n/a
36	chr11:49862012-49862062	RPTEC	kidney:	n/a
37	chr11:49862012-49862062	HMEC	breast:	n/a
38	chr11:49843431-49843481	BJ	skin:	n/a
39	chr11:49843431-49843481	ECC-1	luminal epithelium:	n/a
40	chr11:49843431-49843481	AG04450	lung:	fetal
41	chr11:49862012-49862062	ECC-1	luminal epithelium:	n/a
42	chr11:49843431-49843481	HCPEpiC	choroid plexus:	n/a
43	chr11:49843431-49843481	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:49862012-49862062	ovcar-3	ovarian:	n/a
45	chr11:49862012-49862062	HNPCEpiC	eye:	n/a
46	chr11:49862012-49862062	T-47D	breast:	n/a
47	chr11:49843431-49843481	HCF	heart:	n/a
48	chr11:49843431-49843481	NHDF-neo	bronchial:	n/a
49	chr11:49862012-49862062	PFSK-1	brain:	n/a
50	chr11:49843431-49843481	GM12878	blood:	n/a

No data

Variant related genes	Relation type
TRIM51FP	TF binding region
ENSG00000255268	TF binding region
TRIM51FP	CpG island
ENSG00000255268	CpG island

Extended variants
information (count: 43 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572305588	chr11:49849466-49849467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540530756	chr11:49849495-49849496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2222525	chr11:49849613-49849614	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560229692	chr11:49849621-49849622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs180801525	chr11:49849625-49849626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs185665012	chr11:49849635-49849636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs540988150	chr11:49849638-49849639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191099685	chr11:49849640-49849641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs533233839	chr11:49849646-49849647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs532433870	chr11:49849802-49849803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563419440	chr11:49849825-49849826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568402401	chr11:49849837-49849838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs186610866	chr11:49849868-49849869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs373069184	chr11:49849876-49849877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547358864	chr11:49849924-49849925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146246352	chr11:49849925-49849926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192386954	chr11:49849935-49849936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572493766	chr11:49851077-49851078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs533167423	chr11:49851121-49851122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs549862442	chr11:49851125-49851126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs183582075	chr11:49851145-49851146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs541115626	chr11:49851154-49851155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs189920326	chr11:49851160-49851161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374832303	chr11:49851747-49851748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7925995	chr11:49851763-49851764	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529615848	chr11:49851767-49851768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs571756471	chr11:49851769-49851770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111722385	chr11:49851794-49851795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs566317504	chr11:49851836-49851837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7926128	chr11:49851841-49851842	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533691435	chr11:49851847-49851848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551956147	chr11:49851855-49851856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571381380	chr11:49851857-49851858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs189830842	chr11:49851860-49851861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs141799345	chr11:49851899-49851900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs567148682	chr11:49851911-49851912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550452874	chr11:49851933-49851934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs145540811	chr11:49851950-49851951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs145277322	chr11:49851958-49851959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs28545823	chr11:49862012-49862013	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373133239	chr11:49862025-49862026	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs189292101	chr11:49862028-49862029	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs192276748	chr11:49862053-49862054	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No data

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

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