Variant report

Variant	nsv478
Chromosome Location	chr11:107771032-107790260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:277)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:107787486-107787504	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:107787485-107787505	HepG2	liver:	n/a	n/a
3	CHD2	chr11:107787469-107787640	GM12878	blood:	n/a	n/a
4	CTCF	chr11:107787740-107787890	GM12866	blood:	n/a	n/a
5	CTCF	chr11:107787380-107787530	AG09309	skin:	n/a	n/a
6	CTCF	chr11:107787380-107787530	GM12874	blood:	n/a	n/a
7	CTCF	chr11:107787680-107787830	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:107787780-107787930	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr11:107787375-107787593	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr11:107787780-107787930	GM06990	blood:	n/a	n/a
11	CTCF	chr11:107787400-107787550	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr11:107787400-107787550	HPF	lung:	n/a	n/a
13	CTCF	chr11:107787400-107787550	NHEK	skin:	n/a	n/a
14	CTCF	chr11:107787360-107787510	HCM	heart:	n/a	n/a
15	CTCF	chr11:107787400-107787550	AG10803	skin:	n/a	n/a
16	CTCF	chr11:107786280-107786430	GM12872	blood:	n/a	n/a
17	CTCF	chr11:107787400-107787550	GM12874	blood:	n/a	n/a
18	CTCF	chr11:107787374-107787572	LNCaP	prostate:	n/a	n/a
19	CTCF	chr11:107787760-107787910	HMEC	breast:	n/a	n/a
20	CTCF	chr11:107787740-107787890	AG04449	skin:	n/a	n/a
21	CTCF	chr11:107787740-107787890	GM12864	blood:	n/a	n/a
22	CTCF	chr11:107787420-107787570	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr11:107787720-107787870	NHEK	skin:	n/a	n/a
24	CTCF	chr11:107787400-107787550	BJ	skin:	n/a	n/a
25	CTCF	chr11:107787380-107787530	GM12871	blood:	n/a	n/a
26	CTCF	chr11:107787660-107787810	SAEC	small airway:	n/a	n/a
27	CTCF	chr11:107787380-107787530	GM12870	blood:	n/a	n/a
28	CTCF	chr11:107787328-107787651	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:107788124-107788148	NHEK	skin:	n/a	n/a
30	CTCF	chr11:107787344-107787598	HepG2	liver:	n/a	n/a
31	CTCF	chr11:107787720-107787870	AG09309	skin:	n/a	n/a
32	CTCF	chr11:107787400-107787550	SAEC	small airway:	n/a	n/a
33	CTCF	chr11:107787342-107787624	IMR90	lung:	n/a	n/a
34	CTCF	chr11:107787720-107787870	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:107787702-107787968	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:107787400-107787550	K562	blood:	n/a	n/a
37	CTCF	chr11:107787760-107787910	GM12874	blood:	n/a	n/a
38	CTCF	chr11:107787420-107787570	GM12801	blood:	n/a	n/a
39	CTCF	chr11:107787343-107787648	Medullo	brain:	n/a	n/a
40	CTCF	chr11:107787400-107787550	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr11:107787700-107787850	GM12878	blood:	n/a	n/a
42	CTCF	chr11:107787360-107787510	HVMF	connective:	n/a	n/a
43	CTCF	chr11:107787840-107787990	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr11:107787740-107787890	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr11:107787400-107787550	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr11:107787380-107787530	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr11:107787440-107787590	HCM	heart:	n/a	n/a
48	CTCF	chr11:107787235-107787238	GM10266	blood:	n/a	n/a
49	CTCF	chr11:107787380-107787530	GM12872	blood:	n/a	n/a
50	CTCF	chr11:107787781-107787892	HUVEC	blood vessel:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107779099-107779149	HAEpiC	amniotic membrane:	n/a
2	chr11:107779099-107779149	HAEpiC	amniotic membrane:	n/a
3	chr11:107779149-107779199	PANC-1	pancreas:	n/a
4	chr11:107779099-107779149	HCM	heart:	n/a
5	chr11:107779149-107779199	BJ	skin:	n/a
6	chr11:107779099-107779149	AG10803	skin:	n/a
7	chr11:107779149-107779199	HL-60	blood:	n/a
8	chr11:107779099-107779149	NH-A	brain:	n/a
9	chr11:107779099-107779149	Hepatocyte	liver:	n/a
10	chr11:107779149-107779199	HRCEpiC	kidney:	n/a
11	chr11:107779149-107779199	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:107779099-107779149	GM12892	blood:	n/a
13	chr11:107779149-107779199	HEEpiC	esophagus:	n/a
14	chr11:107779149-107779199	RPTEC	kidney:	n/a
15	chr11:107779099-107779149	ovcar-3	ovarian:	n/a
16	chr11:107779099-107779149	Caco-2	colon:	n/a
17	chr11:107779149-107779199	NB4	blood:	n/a
18	chr11:107779099-107779149	NB4	blood:	n/a
19	chr11:107779149-107779199	HCM	heart:	n/a
20	chr11:107779149-107779199	ovcar-3	ovarian:	n/a
21	chr11:107779149-107779199	SK-N-SH_RA	brain:	n/a
22	chr11:107779149-107779199	AG04450	lung:	fetal
23	chr11:107779099-107779149	PANC-1	pancreas:	n/a
24	chr11:107779149-107779199	BE2_C	brain:	n/a
25	chr11:107779149-107779199	CMK	blood:	n/a
26	chr11:107779149-107779199	SK-N-SH	brain:	n/a
27	chr11:107779099-107779149	LNCaP	prostate:	n/a
28	chr11:107779099-107779149	ECC-1	luminal epithelium:	n/a
29	chr11:107779099-107779149	GM12878	blood:	n/a
30	chr11:107779099-107779149	U87	brain:	n/a
31	chr11:107779099-107779149	ProgFib	skin:	n/a
32	chr11:107779149-107779199	Jurkat	blood:	n/a
33	chr11:107779149-107779199	GM12891	blood:	n/a
34	chr11:107779149-107779199	ECC-1	luminal epithelium:	n/a
35	chr11:107779149-107779199	PrEC	prostate:	n/a
36	chr11:107779099-107779149	HEK293	kidney:	embryo
37	chr11:107779099-107779149	SK-N-MC	brain:	n/a
38	chr11:107779099-107779149	NHDF-neo	bronchial:	n/a
39	chr11:107779149-107779199	LNCaP	prostate:	n/a
40	chr11:107779099-107779149	HEEpiC	esophagus:	n/a
41	chr11:107779149-107779199	NT2-D1	testis:	n/a
42	chr11:107779099-107779149	H1-hESC	embryonic stem cell:	embryo
43	chr11:107779099-107779149	GM06990	blood:	n/a
44	chr11:107779149-107779199	Hepatocyte	liver:	n/a
45	chr11:107779099-107779149	HepG2	liver:	n/a
46	chr11:107779149-107779199	HAEpiC	amniotic membrane:	n/a
47	chr11:107779099-107779149	MCF-7	breast:	n/a
48	chr11:107779149-107779199	SKMC	muscle:	n/a
49	chr11:107779099-107779149	AG09319	gingival:	n/a
50	chr11:107779149-107779199	IMR90	lung:	fetal

No data

Variant related genes	Relation type
ENSG00000240652	TF binding region
ENSG00000240652	CpG island

Extended variants
information (count: 422 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:422 , 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	rs374182261	chr11:107774168-107774169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs146619919	chr11:107774188-107774189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs180757636	chr11:107774229-107774230	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs3105398	chr11:107774316-107774317	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs386757290	chr11:107774330-107774331	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs113616824	chr11:107774331-107774332	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs3099826	chr11:107774332-107774333	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557988420	chr11:107774410-107774411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547105256	chr11:107774418-107774419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568008419	chr11:107774421-107774422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536146603	chr11:107774427-107774428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566829334	chr11:107774443-107774444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186141688	chr11:107774461-107774462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369061207	chr11:107774507-107774508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550996160	chr11:107774570-107774571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113689051	chr11:107774684-107774685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190999171	chr11:107774700-107774701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557802654	chr11:107774704-107774705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572980968	chr11:107774728-107774729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34896538	chr11:107774777-107774778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534062289	chr11:107774794-107774795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555722806	chr11:107774806-107774807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573996586	chr11:107774842-107774843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542059977	chr11:107774846-107774847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6588983	chr11:107774853-107774854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575473962	chr11:107774921-107774922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371682966	chr11:107774935-107774936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546040275	chr11:107774936-107774937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181596730	chr11:107774996-107774997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112425397	chr11:107775011-107775012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186716825	chr11:107775018-107775019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376454655	chr11:107775021-107775022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190634363	chr11:107775025-107775026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183173142	chr11:107775027-107775028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2442681	chr11:107775047-107775048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2442680	chr11:107775050-107775051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561681342	chr11:107775102-107775103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528892740	chr11:107775153-107775154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187646846	chr11:107775207-107775208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569474462	chr11:107775225-107775226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571835098	chr11:107775241-107775242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200946032	chr11:107775287-107775288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539773390	chr11:107775360-107775361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190961954	chr11:107775376-107775377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111750331	chr11:107775446-107775447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147040082	chr11:107775451-107775452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138354812	chr11:107775488-107775489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573935937	chr11:107775509-107775510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201465981	chr11:107775527-107775528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373276981	chr11:107775674-107775675	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
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
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
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
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107774200-107774400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:107774400-107779200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:107774600-107775400	Enhancers	Placenta	Placenta
4	chr11:107775000-107775400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:107775400-107779000	Weak transcription	Placenta	Placenta
6	chr11:107779000-107779200	Enhancers	Placenta	Placenta
7	chr11:107779200-107779400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:107783600-107784400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:107784000-107785000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:107785000-107786400	Enhancers	Placenta	Placenta
11	chr11:107786400-107787600	Weak transcription	Placenta	Placenta
12	chr11:107787200-107787800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:107787200-107787800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:107787400-107787800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr11:107787600-107787800	Enhancers	Primary B cells from peripheral blood	blood
16	chr11:107787600-107787800	Bivalent Enhancer	Brain Angular Gyrus	brain
17	chr11:107787600-107787800	Enhancers	Placenta	Placenta
18	chr11:107789000-107798400	Weak transcription	Right Atrium	heart

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