Variant report

Variant	nsv442242
Chromosome Location	chr11:105049805-105066898
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	ARID3A	chr11:105056096-105056101	K562	blood:	n/a	n/a
2	ARID3A	chr11:105050156-105050694	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:105050365-105050599	HepG2	liver:	n/a	chr11:105050529-105050542
4	CEBPB	chr11:105060352-105060716	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:105051852-105052628	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr11:105060375-105060703	A549	lung:	n/a	n/a
7	CEBPB	chr11:105051822-105052631	IMR90	lung:	n/a	n/a
8	CEBPB	chr11:105060329-105060710	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr11:105060375-105060656	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr11:105060341-105060715	IMR90	lung:	n/a	n/a
11	E2F4	chr11:105060217-105060638	MCF10A-Er-Src	breast:	n/a	chr11:105060265-105060274
12	EP300	chr11:105051843-105052138	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr11:105060315-105060641	Hela-S3	cervix:	n/a	chr11:105060465-105060474
14	EP300	chr11:105050288-105050644	HepG2	liver:	n/a	n/a
15	EP300	chr11:105051858-105052271	SK-N-SH	brain:	n/a	n/a
16	FOS	chr11:105060348-105060684	MCF10A-Er-Src	breast:	n/a	chr11:105060463-105060472
17	FOS	chr11:105051852-105052524	MCF10A-Er-Src	breast:	n/a	chr11:105052057-105052068
18	FOS	chr11:105060296-105060807	MCF10A-Er-Src	breast:	n/a	chr11:105060463-105060472
19	FOS	chr11:105051876-105052607	MCF10A-Er-Src	breast:	n/a	chr11:105052057-105052068
20	FOS	chr11:105060295-105060706	MCF10A-Er-Src	breast:	n/a	chr11:105060463-105060472
21	FOS	chr11:105051877-105052501	MCF10A-Er-Src	breast:	n/a	chr11:105052057-105052068
22	FOS	chr11:105051874-105052322	HUVEC	blood vessel:	n/a	chr11:105052057-105052068
23	FOS	chr11:105051876-105052594	MCF10A-Er-Src	breast:	n/a	chr11:105052057-105052068
24	FOS	chr11:105060307-105060699	MCF10A-Er-Src	breast:	n/a	chr11:105060463-105060472
25	FOSL2	chr11:105051788-105052230	SK-N-SH	brain:	n/a	n/a
26	FOXA1	chr11:105050156-105050715	HepG2	liver:	n/a	n/a
27	FOXA1	chr11:105050192-105050606	HepG2	liver:	n/a	n/a
28	FOXA1	chr11:105053298-105053636	HepG2	liver:	n/a	n/a
29	FOXA1	chr11:105050311-105050582	HepG2	liver:	n/a	n/a
30	FOXA1	chr11:105050333-105050564	HepG2	liver:	n/a	n/a
31	FOXA1	chr11:105058459-105058977	HepG2	liver:	n/a	n/a
32	FOXA2	chr11:105058610-105058798	HepG2	liver:	n/a	n/a
33	FOXA2	chr11:105050188-105050822	HepG2	liver:	n/a	n/a
34	FOXA2	chr11:105050309-105050542	HepG2	liver:	n/a	n/a
35	GATA3	chr11:105051760-105052283	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr11:105051790-105052161	SK-N-SH	brain:	n/a	n/a
37	IRF1	chr11:105056661-105056727	K562	blood:	n/a	n/a
38	MAFF	chr11:105050432-105050551	HepG2	liver:	n/a	n/a
39	MEF2A	chr11:105051807-105052356	SK-N-SH	brain:	n/a	chr11:105052207-105052218 chr11:105052087-105052101
40	MYC	chr11:105060348-105060695	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr11:105052289-105052593	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr11:105062839-105063039	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr11:105060362-105060743	MCF10A-Er-Src	breast:	n/a	n/a
44	NFIC	chr11:105051804-105052203	ECC-1	luminal epithelium:	n/a	chr11:105052021-105052037 chr11:105052020-105052037 chr11:105052019-105052035
45	NFIC	chr11:105051790-105052222	SK-N-SH	brain:	n/a	chr11:105052021-105052037 chr11:105052020-105052037 chr11:105052019-105052035
46	NFIC	chr11:105051795-105052241	ECC-1	luminal epithelium:	n/a	chr11:105052021-105052037 chr11:105052020-105052037 chr11:105052019-105052035
47	NFIC	chr11:105050124-105050606	HepG2	liver:	n/a	chr11:105050408-105050425 chr11:105050409-105050425
48	NFIC	chr11:105050277-105050618	HepG2	liver:	n/a	chr11:105050408-105050425 chr11:105050409-105050425
49	NFIC	chr11:105051766-105052304	SK-N-SH	brain:	n/a	chr11:105052021-105052037 chr11:105052020-105052037 chr11:105052019-105052035
50	PBX3	chr11:105051810-105052281	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:105056257..105058944-chr11:105060943..105064813,3	K562	blood:
2	chr11:105056257..105058944-chr11:105060943..105064813,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARD18-4	chr11:105065167-105065673	NONHSAT023956

Variant related genes	Relation type
OR2AL1P	TF binding region

Extended variants
information (count: 559 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546518954	chr11:105049832-105049833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11226651	chr11:105049856-105049857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17103951	chr11:105049892-105049893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550758903	chr11:105049931-105049932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115463482	chr11:105049946-105049947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116011816	chr11:105049999-105050000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553187064	chr11:105050044-105050045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558312777	chr11:105050161-105050162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201542549	chr11:105050162-105050163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573502913	chr11:105050171-105050172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377551301	chr11:105050183-105050184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187808483	chr11:105050201-105050202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556110692	chr11:105050215-105050216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571011918	chr11:105050239-105050240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146738025	chr11:105050241-105050242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116888924	chr11:105050244-105050245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192104367	chr11:105050279-105050280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183364820	chr11:105050291-105050292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575290284	chr11:105050347-105050348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550313463	chr11:105050379-105050380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545614587	chr11:105050392-105050393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373756035	chr11:105050408-105050409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77821755	chr11:105050453-105050454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568757634	chr11:105050497-105050498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115753989	chr11:105050515-105050516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542038820	chr11:105050535-105050536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561659734	chr11:105050537-105050538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529228704	chr11:105050559-105050560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375385997	chr11:105050608-105050609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550942052	chr11:105050637-105050638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140407358	chr11:105050664-105050665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368644008	chr11:105050665-105050666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs118004754	chr11:105050674-105050675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369451245	chr11:105050742-105050743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375435696	chr11:105050743-105050744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539897856	chr11:105050755-105050756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551603960	chr11:105050763-105050764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6591113	chr11:105050767-105050768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10895786	chr11:105050772-105050773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs556048986	chr11:105050793-105050794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187531580	chr11:105050875-105050876	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs374136270	chr11:105050890-105050891	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140339008	chr11:105050945-105050946	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs370975047	chr11:105050974-105050975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192004146	chr11:105050980-105050981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575160424	chr11:105050987-105050988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs545855490	chr11:105050991-105050992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557449306	chr11:105050992-105050993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs572664698	chr11:105050995-105050996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540043120	chr11:105051005-105051006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105048600-105050200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr11:105048600-105052000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:105048600-105052200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:105048600-105052200	Weak transcription	NHLF	lung
5	chr11:105048600-105052400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:105048600-105052400	Weak transcription	NHDF-Ad	bronchial
7	chr11:105048800-105051800	Weak transcription	NH-A	brain
8	chr11:105049000-105052200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:105049200-105052400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:105050200-105050800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:105050200-105051000	Enhancers	Fetal Heart	heart
12	chr11:105050200-105051000	Enhancers	Fetal Intestine Small	intestine
13	chr11:105050200-105051000	Enhancers	HepG2	liver
14	chr11:105050200-105053000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:105050200-105055000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:105050800-105051000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:105050800-105051000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:105050800-105051200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr11:105051000-105051400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr11:105051000-105052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:105051000-105052000	Weak transcription	Fetal Intestine Small	intestine
22	chr11:105051200-105051600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:105051400-105052000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr11:105051600-105052000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:105051800-105052000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:105051800-105052600	Active TSS	Primary hematopoietic stem cells	blood
27	chr11:105051800-105052600	Enhancers	HUVEC	blood vessel
28	chr11:105051800-105052600	Enhancers	NH-A	brain
29	chr11:105051800-105055400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:105051800-105055400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:105052000-105052200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:105052000-105052400	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:105052000-105052600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:105052000-105052600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:105052000-105052600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr11:105052000-105052800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:105052000-105052800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr11:105052000-105052800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:105052000-105052800	Enhancers	Fetal Intestine Small	intestine
40	chr11:105052000-105052800	Enhancers	Fetal Lung	lung
41	chr11:105052200-105052400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:105052200-105052600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:105052200-105052600	Enhancers	NHLF	lung
44	chr11:105052200-105052800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:105052200-105052800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:105052200-105052800	Active TSS	Primary B cells from cord blood	blood
47	chr11:105052400-105052600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:105052400-105052800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:105052400-105052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:105052400-105052800	Enhancers	Brain Anterior Caudate	brain

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