Variant report

Variant	nsv1037213
Chromosome Location	chr11:58142913-58178810
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	CBX3	chr11:58177572-58177720	K562	blood:	n/a	n/a
2	CEBPB	chr11:58161684-58162043	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:58160286-58160643	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:58160640-58160790	HepG2	liver:	n/a	n/a
5	CTCF	chr11:58157960-58158110	HepG2	liver:	n/a	n/a
6	CTCF	chr11:58158014-58158030	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:58162920-58163070	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr11:58157968-58158052	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:58157924-58158110	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:58167238-58167333	LNCaP	prostate:	n/a	n/a
11	CTCF	chr11:58157932-58158090	HepG2	liver:	n/a	n/a
12	CTCF	chr11:58157960-58158076	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:58163040-58163190	AG10803	skin:	n/a	n/a
14	CTCF	chr11:58162920-58163070	GM12865	blood:	n/a	n/a
15	CTCF	chr11:58167682-58167778	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr11:58162989-58163082	Fibrobl	skin:	n/a	n/a
17	CTCF	chr11:58142820-58142970	GM12870	blood:	n/a	n/a
18	CTCF	chr11:58162820-58162970	BJ	skin:	n/a	n/a
19	CTCF	chr11:58162940-58163090	BJ	skin:	n/a	n/a
20	E2F4	chr11:58161815-58161926	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr11:58161642-58162068	T-47D	breast:	n/a	chr11:58161821-58161830
22	EP300	chr11:58160452-58160918	T-47D	breast:	n/a	n/a
23	EP300	chr11:58161622-58161985	SK-N-SH_RA	brain:	n/a	chr11:58161821-58161830
24	EP300	chr11:58161754-58161976	SK-N-SH_RA	brain:	n/a	chr11:58161821-58161830
25	EP300	chr11:58161599-58162159	SK-N-SH	brain:	n/a	chr11:58161821-58161830
26	EP300	chr11:58170842-58170889	K562	blood:	n/a	n/a
27	EP300	chr11:58161658-58162090	Hela-S3	cervix:	n/a	chr11:58161821-58161830
28	EP300	chr11:58160292-58160660	Hela-S3	cervix:	n/a	n/a
29	FOS	chr11:58156000-58156373	HUVEC	blood vessel:	n/a	chr11:58156165-58156176
30	FOS	chr11:58160051-58160555	HUVEC	blood vessel:	n/a	n/a
31	FOS	chr11:58161655-58162132	MCF10A-Er-Src	breast:	n/a	chr11:58161823-58161830 chr11:58161821-58161830 chr11:58161820-58161831
32	FOS	chr11:58161656-58162010	MCF10A-Er-Src	breast:	n/a	chr11:58161823-58161830 chr11:58161821-58161830 chr11:58161820-58161831
33	FOS	chr11:58171118-58171215	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr11:58161655-58162013	MCF10A-Er-Src	breast:	n/a	chr11:58161823-58161830 chr11:58161821-58161830 chr11:58161820-58161831
35	FOS	chr11:58160895-58162136	HUVEC	blood vessel:	n/a	chr11:58161823-58161830 chr11:58161821-58161830 chr11:58161820-58161831
36	FOS	chr11:58161659-58162012	MCF10A-Er-Src	breast:	n/a	chr11:58161823-58161830 chr11:58161821-58161830 chr11:58161820-58161831
37	FOS	chr11:58160334-58160476	MCF10A-Er-Src	breast:	n/a	n/a
38	FOSL2	chr11:58161769-58162012	MCF-7	breast:	n/a	chr11:58161823-58161830 chr11:58161821-58161830
39	FOSL2	chr11:58161578-58162192	SK-N-SH	brain:	n/a	chr11:58161823-58161830 chr11:58161821-58161830
40	FOSL2	chr11:58161597-58162144	SK-N-SH	brain:	n/a	chr11:58161823-58161830 chr11:58161821-58161830
41	FOXA1	chr11:58161769-58162085	T-47D	breast:	n/a	n/a
42	FOXA1	chr11:58160276-58160854	T-47D	breast:	n/a	n/a
43	FOXA1	chr11:58161679-58162192	T-47D	breast:	n/a	n/a
44	GATA2	chr11:58161424-58162317	HUVEC	blood vessel:	n/a	chr11:58162227-58162236 chr11:58162170-58162178 chr11:58162227-58162237 chr11:58161905-58161919
45	GATA2	chr11:58155990-58156399	HUVEC	blood vessel:	n/a	chr11:58156151-58156161
46	GATA2	chr11:58160135-58160613	HUVEC	blood vessel:	n/a	n/a
47	GATA3	chr11:58161454-58162318	SK-N-SH	brain:	n/a	chr11:58162227-58162236 chr11:58162170-58162178 chr11:58162227-58162237
48	GATA3	chr11:58161554-58162325	SK-N-SH	brain:	n/a	chr11:58162227-58162236 chr11:58162170-58162178 chr11:58162227-58162237
49	GATA3	chr11:58161654-58162027	MCF-7	breast:	n/a	n/a
50	GATA3	chr11:58160044-58160797	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58171708-58171758	HCPEpiC	choroid plexus:	n/a
2	chr11:58159947-58159997	AG09319	gingival:	n/a
3	chr11:58170461-58170511	HIPEpiC	eye:	n/a
4	chr11:58171033-58171083	NHDF-neo	bronchial:	n/a
5	chr11:58171033-58171083	GM12878	blood:	n/a
6	chr11:58170303-58170353	PFSK-1	brain:	n/a
7	chr11:58159947-58159997	T-47D	breast:	n/a
8	chr11:58170461-58170511	BE2_C	brain:	n/a
9	chr11:58170461-58170511	AG09319	gingival:	n/a
10	chr11:58171033-58171083	RPTEC	kidney:	n/a
11	chr11:58159947-58159997	AG10803	skin:	n/a
12	chr11:58170461-58170511	HCM	heart:	n/a
13	chr11:58159947-58159997	SK-N-SH	brain:	n/a
14	chr11:58171033-58171083	AG10803	skin:	n/a
15	chr11:58171708-58171758	GM12891	blood:	n/a
16	chr11:58159947-58159997	NH-A	brain:	n/a
17	chr11:58171708-58171758	SK-N-SH	brain:	n/a
18	chr11:58170303-58170353	NT2-D1	testis:	n/a
19	chr11:58170461-58170511	GM19239	blood:	n/a
20	chr11:58170461-58170511	K562	blood:	n/a
21	chr11:58170461-58170511	LNCaP	prostate:	n/a
22	chr11:58171708-58171758	Hepatocyte	liver:	n/a
23	chr11:58170303-58170353	HUVEC	blood vessel:	n/a
24	chr11:58171033-58171083	SK-N-SH_RA	brain:	n/a
25	chr11:58170303-58170353	HRE	kidney:	n/a
26	chr11:58159947-58159997	HCT-116	colon:	n/a
27	chr11:58171033-58171083	Jurkat	blood:	n/a
28	chr11:58170303-58170353	AoSMC	blood vessel:	n/a
29	chr11:58170303-58170353	Hela-S3	cervix:	n/a
30	chr11:58170461-58170511	MCF-7	breast:	n/a
31	chr11:58171708-58171758	CMK	blood:	n/a
32	chr11:58171708-58171758	AG04449	skin:	fetal
33	chr11:58171708-58171758	NB4	blood:	n/a
34	chr11:58170461-58170511	GM06990	blood:	n/a
35	chr11:58170461-58170511	Jurkat	blood:	n/a
36	chr11:58159947-58159997	HAEpiC	amniotic membrane:	n/a
37	chr11:58171708-58171758	NH-A	brain:	n/a
38	chr11:58159947-58159997	BE2_C	brain:	n/a
39	chr11:58159947-58159997	SK-N-SH_RA	brain:	n/a
40	chr11:58171708-58171758	H1-hESC	embryonic stem cell:	embryo
41	chr11:58159947-58159997	PrEC	prostate:	n/a
42	chr11:58170303-58170353	GM12891	blood:	n/a
43	chr11:58170303-58170353	NB4	blood:	n/a
44	chr11:58171708-58171758	HepG2	liver:	n/a
45	chr11:58171033-58171083	ProgFib	skin:	n/a
46	chr11:58159947-58159997	HCF	heart:	n/a
47	chr11:58170461-58170511	PrEC	prostate:	n/a
48	chr11:58171033-58171083	ovcar-3	ovarian:	n/a
49	chr11:58170303-58170353	IMR90	lung:	fetal
50	chr11:58159947-58159997	HIPEpiC	eye:	n/a

Variant related genes	Relation type
OR5B15P	TF binding region
OR5B3	TF binding region
OR5B15P	CpG island
OR5B3	CpG island

Extended variants
information (count: 443 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114498004	chr11:58155467-58155468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141167781	chr11:58155485-58155486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34347092	chr11:58155499-58155500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35769608	chr11:58155512-58155513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370296183	chr11:58155518-58155519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553519453	chr11:58155540-58155541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574494238	chr11:58155542-58155543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528478583	chr11:58155599-58155600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563145521	chr11:58155621-58155622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184774362	chr11:58155683-58155684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545795323	chr11:58155687-58155688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73485922	chr11:58155716-58155717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528386556	chr11:58155783-58155784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374246178	chr11:58155790-58155791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10792167	chr11:58155809-58155810	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530148369	chr11:58155824-58155825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370766081	chr11:58155871-58155872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73485926	chr11:58155907-58155908	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371995330	chr11:58155946-58155947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80041443	chr11:58155947-58155948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375009588	chr11:58155950-58155951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537073310	chr11:58155961-58155962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552135163	chr11:58155978-58155979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570848077	chr11:58155994-58155995	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs534980298	chr11:58156038-58156039	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553293470	chr11:58156110-58156111	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189158776	chr11:58156128-58156129	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs574935784	chr11:58156171-58156172	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181751635	chr11:58156193-58156194	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs551245475	chr11:58156205-58156206	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs186498840	chr11:58156290-58156291	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs575396206	chr11:58156295-58156296	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs368150342	chr11:58156300-58156301	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs573979573	chr11:58156312-58156313	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs12278357	chr11:58156428-58156429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573179647	chr11:58156440-58156441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17473544	chr11:58156467-58156468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561752423	chr11:58156475-58156476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546598955	chr11:58156482-58156483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146175696	chr11:58156561-58156562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529059708	chr11:58156623-58156624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572890644	chr11:58156626-58156627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137965710	chr11:58156673-58156674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571111572	chr11:58156689-58156690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189805760	chr11:58156772-58156773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530901318	chr11:58156786-58156787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75830623	chr11:58156864-58156865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181053199	chr11:58156883-58156884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570465856	chr11:58156890-58156891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60168609	chr11:58156911-58156912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Breast cancer	17142309	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58155400-58155800	Enhancers	HSMMtube	muscle
2	chr11:58155600-58156400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr11:58155800-58160000	Weak transcription	HSMMtube	muscle
4	chr11:58156400-58159000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:58156600-58162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:58158000-58158200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:58158000-58159200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:58158200-58162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:58158400-58158600	Enhancers	Esophagus	oesophagus
10	chr11:58158400-58159800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:58158800-58162400	Enhancers	NHLF	lung
12	chr11:58159000-58162200	Enhancers	Osteobl	bone
13	chr11:58159000-58162400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:58159200-58160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:58159400-58162200	Enhancers	NHDF-Ad	bronchial
16	chr11:58159600-58162200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:58159600-58162400	Enhancers	HMEC	breast
18	chr11:58159800-58162800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:58159800-58163800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:58160000-58162200	Enhancers	Hela-S3	cervix
21	chr11:58160000-58162200	Enhancers	HSMMtube	muscle
22	chr11:58160000-58162400	Enhancers	NHEK	skin
23	chr11:58160200-58161400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:58160200-58161400	Enhancers	NH-A	brain
25	chr11:58160200-58162400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:58160200-58162600	Enhancers	HUVEC	blood vessel
27	chr11:58160200-58163800	Enhancers	HSMM	muscle
28	chr11:58160400-58162200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:58160400-58162200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:58161400-58162000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:58161400-58162000	Weak transcription	NH-A	brain
32	chr11:58162000-58162200	Enhancers	NH-A	brain
33	chr11:58162000-58163200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:58162200-58162600	Weak transcription	HSMMtube	muscle
35	chr11:58162200-58163000	Weak transcription	Osteobl	bone
36	chr11:58162400-58162600	Weak transcription	NHEK	skin
37	chr11:58162400-58162600	Weak transcription	NHLF	lung
38	chr11:58162600-58163000	ZNF genes & repeats	HSMMtube	muscle
39	chr11:58162600-58163200	ZNF genes & repeats	NHEK	skin
40	chr11:58162600-58163200	ZNF genes & repeats	NHLF	lung
41	chr11:58162800-58163000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:58162800-58163000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:58162800-58163000	ZNF genes & repeats	Gastric	stomach
44	chr11:58162800-58163200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:58163000-58163600	Weak transcription	HSMMtube	muscle
46	chr11:58163000-58163800	Enhancers	Osteobl	bone
47	chr11:58163600-58163800	Enhancers	HSMMtube	muscle
48	chr11:58174400-58178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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