Variant report

Variant	nsv471
Chromosome Location	chr11:105116266-105160548
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	ATF1	chr11:105140259-105140469	K562	blood:	n/a	n/a
2	CEBPB	chr11:105136545-105136918	Hela-S3	cervix:	n/a	chr11:105136722-105136739
3	CEBPB	chr11:105117710-105118084	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:105136627-105136884	IMR90	lung:	n/a	chr11:105136722-105136739
5	CTCF	chr11:105151767-105151821	GM10266	blood:	n/a	n/a
6	E2F4	chr11:105152805-105153059	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr11:105116594-105116671	GM12878	blood:	n/a	n/a
8	EP300	chr11:105153431-105153770	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr11:105136593-105136909	Hela-S3	cervix:	n/a	chr11:105136726-105136734
10	EP300	chr11:105153132-105154261	SK-N-SH	brain:	n/a	chr11:105154201-105154215 chr11:105153776-105153790 chr11:105154202-105154216
11	EP300	chr11:105143948-105145173	SK-N-SH	brain:	n/a	chr11:105144212-105144220 chr11:105145124-105145134
12	EP300	chr11:105153414-105153717	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr11:105144405-105144739	SK-N-SH_RA	brain:	n/a	n/a
14	FOS	chr11:105136560-105136962	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:105136585-105136941	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:105136565-105136968	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:105136537-105136972	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:105136541-105136874	HUVEC	blood vessel:	n/a	n/a
19	FOXA2	chr11:105135602-105135921	A549	lung:	n/a	n/a
20	GATA2	chr11:105144451-105144783	SH-SY5Y	brain:	n/a	chr11:105144655-105144666 chr11:105144513-105144522 chr11:105144510-105144526
21	GATA2	chr11:105135902-105136303	K562	blood:	n/a	n/a
22	GATA2	chr11:105137806-105138100	SH-SY5Y	brain:	n/a	chr11:105137984-105137991 chr11:105137984-105137991 chr11:105137984-105137994 chr11:105137995-105138005 chr11:105137984-105137991
23	GATA2	chr11:105153394-105153750	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr11:105144447-105144746	SH-SY5Y	brain:	n/a	chr11:105144655-105144666 chr11:105144513-105144522 chr11:105144510-105144526
25	GATA3	chr11:105144296-105144869	SK-N-SH	brain:	n/a	chr11:105144655-105144666 chr11:105144513-105144522 chr11:105144510-105144526
26	GATA3	chr11:105116113-105116297	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr11:105153396-105153912	SH-SY5Y	brain:	n/a	chr11:105153833-105153840
28	GATA3	chr11:105153351-105153920	SK-N-SH	brain:	n/a	chr11:105153833-105153840
29	GATA3	chr11:105144404-105144775	SK-N-SH	brain:	n/a	chr11:105144655-105144666 chr11:105144513-105144522 chr11:105144510-105144526
30	GATA3	chr11:105153251-105153908	SK-N-SH	brain:	n/a	chr11:105153833-105153840
31	KAP1	chr11:105119962-105120189	K562	blood:	n/a	n/a
32	MAFF	chr11:105144645-105144890	K562	blood:	n/a	chr11:105144803-105144821
33	MAFF	chr11:105144713-105144933	HepG2	liver:	n/a	chr11:105144803-105144821
34	MAFK	chr11:105144648-105144982	HepG2	liver:	n/a	chr11:105144804-105144819 chr11:105144799-105144819
35	MAFK	chr11:105144632-105144970	IMR90	lung:	n/a	chr11:105144804-105144819 chr11:105144799-105144819
36	MAFK	chr11:105142449-105142601	HepG2	liver:	n/a	n/a
37	MAFK	chr11:105139558-105139675	HepG2	liver:	n/a	n/a
38	MAFK	chr11:105144633-105144898	HepG2	liver:	n/a	chr11:105144804-105144819 chr11:105144799-105144819
39	MYC	chr11:105136621-105136996	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr11:105136593-105136966	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:105119623-105119683	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:105144404-105145374	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr11:105152668-105152868	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:105158562-105158564	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:105139017-105139168	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:105119957-105119997	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:105152626-105152633	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr11:105143895-105144205	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr11:105144410-105145338	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr11:105131797-105131960	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:105125650..105127473-chr11:105130695..105132691,2	K562	blood:
2	chr11:105125650..105127473-chr11:105130695..105132691,2	K562	blood:
3	chr11:105153100..105154691-chr11:105182202..105183896,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARD18-2	chr11:105138990-105139038	ENSG00000254998.1
2	lnc-CARD18-2	chr11:105130369-105130412	ENSG00000254998.1

Variant related genes	Relation type
ENSG00000255336	TF binding region

Extended variants
information (count: 607 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188881448	chr11:105116298-105116299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564572768	chr11:105116315-105116316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528563588	chr11:105116418-105116419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193239816	chr11:105116465-105116466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561943479	chr11:105116541-105116542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544407783	chr11:105116542-105116543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538687904	chr11:105116581-105116582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113102613	chr11:105116650-105116651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139689686	chr11:105116654-105116655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550822485	chr11:105116704-105116705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569211790	chr11:105116724-105116725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530497576	chr11:105116725-105116726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs900457	chr11:105116768-105116769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528776699	chr11:105116825-105116826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185338428	chr11:105116828-105116829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552601934	chr11:105116829-105116830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143927016	chr11:105116835-105116836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568251173	chr11:105116839-105116840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188658224	chr11:105116891-105116892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557243072	chr11:105116986-105116987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575628585	chr11:105116998-105116999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546116356	chr11:105117066-105117067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557846593	chr11:105117086-105117087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573238266	chr11:105117123-105117124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534632413	chr11:105117137-105117138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561856936	chr11:105117152-105117153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529400738	chr11:105117165-105117166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544426339	chr11:105117177-105117178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562806650	chr11:105117190-105117191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533442622	chr11:105117208-105117209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73623311	chr11:105117215-105117216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs56249079	chr11:105117247-105117248	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112780137	chr11:105117270-105117271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546676740	chr11:105117347-105117348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12226074	chr11:105117386-105117387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568564032	chr11:105117435-105117436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116861217	chr11:105117444-105117445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566894263	chr11:105117476-105117477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557179510	chr11:105117556-105117557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569104512	chr11:105117628-105117629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539351791	chr11:105117664-105117665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558073802	chr11:105117700-105117701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573114631	chr11:105117718-105117719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191803768	chr11:105117753-105117754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10791750	chr11:105117767-105117768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545473604	chr11:105117827-105117828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs573811903	chr11:105117829-105117830	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs57454398	chr11:105117843-105117844	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12292454	chr11:105117855-105117856	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533621705	chr11:105117880-105117881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105114200-105117000	Enhancers	NHLF	lung
2	chr11:105114200-105117200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:105114200-105117200	Enhancers	Hela-S3	cervix
4	chr11:105114400-105116800	Enhancers	HUVEC	blood vessel
5	chr11:105114400-105117000	Enhancers	NHDF-Ad	bronchial
6	chr11:105114600-105116600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:105115000-105116600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:105115600-105116400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:105115600-105116600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:105115800-105117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:105115800-105117000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:105116000-105116400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:105116200-105116800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:105116400-105116800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:105116600-105117400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:105116800-105118000	Weak transcription	HUVEC	blood vessel
17	chr11:105117400-105119000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:105118000-105118400	Enhancers	HUVEC	blood vessel
19	chr11:105119000-105119200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:105119200-105119600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:105119600-105119800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:105119800-105122400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:105122400-105123000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:105122400-105123000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:105131800-105132600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:105132000-105132400	Enhancers	Dnd41	blood
27	chr11:105132200-105132600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:105135800-105136800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:105136200-105137200	Enhancers	NHEK	skin
30	chr11:105136400-105136800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:105136400-105136800	Enhancers	Hela-S3	cervix
32	chr11:105136400-105137200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:105139000-105139600	Active TSS	Right Ventricle	heart
34	chr11:105139000-105140000	Enhancers	Fetal Heart	heart
35	chr11:105139200-105139600	Active TSS	Duodenum Mucosa	Duodenum
36	chr11:105140000-105144400	Weak transcription	Fetal Heart	heart
37	chr11:105144400-105145200	Enhancers	Fetal Heart	heart
38	chr11:105144400-105145600	Enhancers	Brain Hippocampus Middle	brain
39	chr11:105144600-105144800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:105144600-105145600	Enhancers	Brain Substantia Nigra	brain
41	chr11:105144800-105145400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:105144800-105145600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:105145600-105146000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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