Variant report

Variant	esv2762942
Chromosome Location	chr11:105044258-105066898
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	chr11:105050156-105050694	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:105056096-105056101	K562	blood:	n/a	n/a
3	CEBPB	chr11:105060341-105060715	IMR90	lung:	n/a	n/a
4	CEBPB	chr11:105060329-105060710	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:105060375-105060656	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr11:105060352-105060716	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:105051852-105052628	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:105060375-105060703	A549	lung:	n/a	n/a
9	CEBPB	chr11:105051822-105052631	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:105050365-105050599	HepG2	liver:	n/a	chr11:105050529-105050542
11	E2F4	chr11:105060217-105060638	MCF10A-Er-Src	breast:	n/a	chr11:105060265-105060274
12	EP300	chr11:105060315-105060641	Hela-S3	cervix:	n/a	chr11:105060465-105060474
13	EP300	chr11:105050288-105050644	HepG2	liver:	n/a	n/a
14	EP300	chr11:105051843-105052138	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr11:105051858-105052271	SK-N-SH	brain:	n/a	n/a
16	EP300	chr11:105048347-105048945	SK-N-SH	brain:	n/a	n/a
17	EP300	chr11:105048453-105048769	SK-N-SH_RA	brain:	n/a	n/a
18	FOS	chr11:105051877-105052501	MCF10A-Er-Src	breast:	n/a	chr11:105052057-105052068
19	FOS	chr11:105051876-105052594	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	chr11:105048460-105048823	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:105060307-105060699	MCF10A-Er-Src	breast:	n/a	chr11:105060463-105060472
23	FOS	chr11:105048407-105048808	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr11:105048457-105048802	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr11:105051876-105052607	MCF10A-Er-Src	breast:	n/a	chr11:105052057-105052068
26	FOS	chr11:105060348-105060684	MCF10A-Er-Src	breast:	n/a	chr11:105060463-105060472
27	FOS	chr11:105048432-105048783	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr11:105051874-105052322	HUVEC	blood vessel:	n/a	chr11:105052057-105052068
29	FOS	chr11:105051852-105052524	MCF10A-Er-Src	breast:	n/a	chr11:105052057-105052068
30	FOS	chr11:105060296-105060807	MCF10A-Er-Src	breast:	n/a	chr11:105060463-105060472
31	FOSL2	chr11:105048308-105048932	SK-N-SH	brain:	n/a	n/a
32	FOSL2	chr11:105048498-105048803	SK-N-SH	brain:	n/a	n/a
33	FOSL2	chr11:105051788-105052230	SK-N-SH	brain:	n/a	n/a
34	FOXA1	chr11:105050192-105050606	HepG2	liver:	n/a	n/a
35	FOXA1	chr11:105058459-105058977	HepG2	liver:	n/a	n/a
36	FOXA1	chr11:105050156-105050715	HepG2	liver:	n/a	n/a
37	FOXA1	chr11:105050311-105050582	HepG2	liver:	n/a	n/a
38	FOXA1	chr11:105050333-105050564	HepG2	liver:	n/a	n/a
39	FOXA1	chr11:105053298-105053636	HepG2	liver:	n/a	n/a
40	FOXA2	chr11:105050188-105050822	HepG2	liver:	n/a	n/a
41	FOXA2	chr11:105050309-105050542	HepG2	liver:	n/a	n/a
42	FOXA2	chr11:105058610-105058798	HepG2	liver:	n/a	n/a
43	GATA3	chr11:105048087-105048928	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr11:105051790-105052161	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr11:105051760-105052283	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr11:105048126-105048925	SK-N-SH	brain:	n/a	n/a
47	IRF1	chr11:105056661-105056727	K562	blood:	n/a	n/a
48	JUND	chr11:105048288-105048897	SK-N-SH	brain:	n/a	n/a
49	JUND	chr11:105048282-105048925	SK-N-SH	brain:	n/a	n/a
50	MAFF	chr11:105050432-105050551	HepG2	liver:	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: 638 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:638 , 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	rs188791523	chr11:105045413-105045414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578199618	chr11:105045501-105045502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541559823	chr11:105045560-105045561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370554008	chr11:105045624-105045625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539010590	chr11:105045630-105045631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181207713	chr11:105045673-105045674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375143017	chr11:105045694-105045695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554960078	chr11:105045755-105045756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79593202	chr11:105045791-105045792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553065735	chr11:105048236-105048237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574652365	chr11:105048259-105048260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575625310	chr11:105048269-105048270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140649829	chr11:105048270-105048271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573345159	chr11:105048285-105048286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563596299	chr11:105048286-105048287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74847651	chr11:105048290-105048291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542022799	chr11:105048300-105048301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563587026	chr11:105048310-105048311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12421898	chr11:105048311-105048312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189505438	chr11:105048346-105048347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564707905	chr11:105048350-105048351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532157020	chr11:105048357-105048358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180728627	chr11:105048358-105048359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140076850	chr11:105048363-105048364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142778118	chr11:105048365-105048366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373627486	chr11:105048379-105048380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548393349	chr11:105048394-105048395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113457298	chr11:105048435-105048436	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114198471	chr11:105048441-105048442	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs72990669	chr11:105048474-105048475	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570721207	chr11:105048479-105048480	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534705307	chr11:105048487-105048488	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs373817272	chr11:105048545-105048546	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187502749	chr11:105048551-105048552	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574590806	chr11:105048592-105048593	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs367806225	chr11:105048747-105048748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10895785	chr11:105048750-105048751	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557257712	chr11:105048769-105048770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550186418	chr11:105048780-105048781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575825026	chr11:105048784-105048785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563557163	chr11:105048788-105048789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190490052	chr11:105048793-105048794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373081690	chr11:105048806-105048807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532095689	chr11:105048817-105048818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61596800	chr11:105048832-105048833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77189221	chr11:105048924-105048925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144485302	chr11:105048954-105048955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186018077	chr11:105048974-105048975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569723520	chr11:105048983-105048984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530746258	chr11:105049017-105049018	Enhancers Weak transcription	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105045400-105045800	Enhancers	HUVEC	blood vessel
2	chr11:105048200-105048600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:105048200-105048600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:105048200-105048600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:105048200-105048600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:105048200-105048600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:105048200-105048600	Enhancers	NHDF-Ad	bronchial
8	chr11:105048200-105048600	Enhancers	NHLF	lung
9	chr11:105048200-105048800	Enhancers	NH-A	brain
10	chr11:105048200-105049000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:105048200-105049200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:105048400-105048600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr11:105048600-105050200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:105048600-105052000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:105048600-105052200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:105048600-105052200	Weak transcription	NHLF	lung
17	chr11:105048600-105052400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:105048600-105052400	Weak transcription	NHDF-Ad	bronchial
19	chr11:105048800-105051800	Weak transcription	NH-A	brain
20	chr11:105049000-105052200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:105049200-105052400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:105050200-105050800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:105050200-105051000	Enhancers	Fetal Heart	heart
24	chr11:105050200-105051000	Enhancers	Fetal Intestine Small	intestine
25	chr11:105050200-105051000	Enhancers	HepG2	liver
26	chr11:105050200-105053000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:105050200-105055000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:105050800-105051000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:105050800-105051000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr11:105050800-105051200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:105051000-105051400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr11:105051000-105052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:105051000-105052000	Weak transcription	Fetal Intestine Small	intestine
34	chr11:105051200-105051600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:105051400-105052000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr11:105051600-105052000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:105051800-105052000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:105051800-105052600	Active TSS	Primary hematopoietic stem cells	blood
39	chr11:105051800-105052600	Enhancers	HUVEC	blood vessel
40	chr11:105051800-105052600	Enhancers	NH-A	brain
41	chr11:105051800-105055400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:105051800-105055400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:105052000-105052200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:105052000-105052400	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr11:105052000-105052600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:105052000-105052600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr11:105052000-105052600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr11:105052000-105052800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:105052000-105052800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr11:105052000-105052800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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