Variant report

Variant	nsv818863
Chromosome Location	chr11:104940204-104960997
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	BATF	chr11:104948119-104948459	GM12878	blood:	n/a	chr11:104948321-104948332
2	CEBPB	chr11:104951169-104951316	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:104948635-104948827	HepG2	liver:	n/a	chr11:104948658-104948669
4	CEBPB	chr11:104951117-104951358	IMR90	lung:	n/a	n/a
5	CTCF	chr11:104945420-104945570	BE2_C	brain:	n/a	n/a
6	CTCF	chr11:104945360-104945510	AG09309	skin:	n/a	n/a
7	CTCF	chr11:104943363-104943427	GM13976	blood:	n/a	n/a
8	CTCF	chr11:104941845-104941925	Lung_OC	lung:	n/a	n/a
9	CTCF	chr11:104945394-104945576	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:104948711-104948822	Kidney_OC	kidney:	n/a	n/a
11	E2F4	chr11:104945873-104946021	MCF10A-Er-Src	breast:	n/a	n/a
12	EBF1	chr11:104946814-104946837	GM12878	blood:	n/a	chr11:104946815-104946826
13	FOS	chr11:104942187-104942387	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:104948928-104949030	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:104948211-104948907	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:104944266-104944785	HUVEC	blood vessel:	n/a	n/a
17	FOS	chr11:104948262-104948729	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:104942222-104942367	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:104942242-104942452	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:104941274-104941386	MCF10A-Er-Src	breast:	n/a	chr11:104941311-104941321 chr11:104941311-104941321 chr11:104941308-104941319
21	FOS	chr11:104941168-104941469	MCF10A-Er-Src	breast:	n/a	chr11:104941311-104941321 chr11:104941311-104941321 chr11:104941308-104941319
22	FOS	chr11:104941176-104941474	MCF10A-Er-Src	breast:	n/a	chr11:104941311-104941321 chr11:104941311-104941321 chr11:104941308-104941319
23	FOS	chr11:104948241-104948837	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr11:104941207-104941399	MCF10A-Er-Src	breast:	n/a	chr11:104941311-104941321 chr11:104941311-104941321 chr11:104941308-104941319
25	FOXA2	chr11:104960656-104960851	HepG2	liver:	n/a	n/a
26	JUN	chr11:104945011-104945062	K562	blood:	n/a	n/a
27	MAFF	chr11:104947432-104947580	HepG2	liver:	n/a	n/a
28	MAFF	chr11:104941396-104941578	HepG2	liver:	n/a	chr11:104941492-104941510
29	MAFK	chr11:104947352-104947628	HepG2	liver:	n/a	n/a
30	MAFK	chr11:104947451-104947500	HepG2	liver:	n/a	n/a
31	MYC	chr11:104940682-104940736	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr11:104948687-104948837	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr11:104942084-104942475	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr11:104940722-104940734	HUVEC	blood vessel:	n/a	n/a
35	MYC	chr11:104948580-104948902	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr11:104940591-104940721	HUVEC	blood vessel:	n/a	n/a
37	MYC	chr11:104942094-104942573	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:104950871-104950917	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:104960506-104960630	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:104941990-104942437	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:104944737-104944855	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:104950926-104951391	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:104941419-104941619	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:104951944-104951960	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:104946338-104946365	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:104951882-104951942	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:104945881-104945963	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:104948645-104948863	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:104940643-104940761	Gliobla	brain:	n/a	n/a
50	POLR2A	chr11:104942006-104942470	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CASP1P2	TF binding region

Extended variants
information (count: 775 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:775 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537727	chr11:104940204-104940205	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530269335	chr11:104940215-104940216	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573611041	chr11:104940216-104940217	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182118944	chr11:104940226-104940227	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187951624	chr11:104940236-104940237	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538778431	chr11:104940249-104940250	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs515725	chr11:104940280-104940281	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376148907	chr11:104940290-104940291	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569186775	chr11:104940306-104940307	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538235279	chr11:104940308-104940309	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554944915	chr11:104940312-104940313	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574794933	chr11:104940335-104940336	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556567547	chr11:104940336-104940337	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371472988	chr11:104940340-104940341	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554034137	chr11:104940353-104940354	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576937387	chr11:104940407-104940408	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143326120	chr11:104940422-104940423	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1785877	chr11:104940426-104940427	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147524394	chr11:104940437-104940438	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117527815	chr11:104940443-104940444	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541412851	chr11:104940458-104940459	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs513941	chr11:104940481-104940482	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564252593	chr11:104940484-104940485	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546860107	chr11:104940512-104940513	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202233958	chr11:104940513-104940514	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537045603	chr11:104940514-104940515	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58825719	chr11:104940528-104940529	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201436143	chr11:104940529-104940530	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140134602	chr11:104940571-104940572	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569326777	chr11:104940613-104940614	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538303547	chr11:104940615-104940616	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35531717	chr11:104940632-104940633	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs512833	chr11:104940634-104940635	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548607473	chr11:104940680-104940681	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568438060	chr11:104940723-104940724	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534098222	chr11:104940749-104940750	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554095308	chr11:104940768-104940769	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576989367	chr11:104940785-104940786	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539614836	chr11:104940828-104940829	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556023265	chr11:104940830-104940831	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576094808	chr11:104940836-104940837	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541476023	chr11:104940838-104940839	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554964636	chr11:104940839-104940840	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs571671728	chr11:104940840-104940841	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540558791	chr11:104940856-104940857	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs1792756	chr11:104940866-104940867	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs145544678	chr11:104940899-104940900	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs3016799	chr11:104940905-104940906	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559892674	chr11:104940938-104940939	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs3016800	chr11:104940946-104940947	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104935200-104941200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:104938200-104941800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:104939000-104940600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr11:104939600-104940400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:104939600-104940400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr11:104939600-104941000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:104939600-104941000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr11:104939800-104940400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:104939800-104940800	Weak transcription	NHEK	skin
10	chr11:104940000-104940600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:104940000-104941000	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr11:104940200-104940400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:104940200-104940800	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr11:104940200-104941400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr11:104940200-104942400	Active TSS	Primary T cells fromperipheralblood	blood
16	chr11:104940400-104940800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:104940400-104940800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr11:104940400-104941000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:104940400-104941000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:104940600-104941000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:104940600-104941400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr11:104940600-104941400	Enhancers	Dnd41	blood
23	chr11:104940800-104941000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:104940800-104941200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr11:104940800-104941400	Enhancers	NHEK	skin
26	chr11:104940800-104941600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr11:104940800-104943200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:104941000-104941200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:104941000-104941400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:104941000-104941400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:104941000-104941400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr11:104941000-104941600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:104941000-104941800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:104941000-104942000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:104941000-104942200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:104941000-104942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:104941000-104942600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr11:104941000-104942600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:104941200-104941400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr11:104941200-104941600	Active TSS	Duodenum Mucosa	Duodenum
41	chr11:104941200-104942000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:104941200-104942200	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr11:104941200-104942400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:104941200-104942400	Enhancers	Placenta	Placenta
45	chr11:104941400-104941600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr11:104941400-104942000	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr11:104941400-104942200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:104941400-104942400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr11:104941400-104942400	Flanking Active TSS	NHEK	skin
50	chr11:104941400-104942600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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