Variant report

Variant	esv1808781
Chromosome Location	chr11:107776667-107788375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:274)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:274 , 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	chr11:107788000-107788150	GM12872	blood:	n/a	n/a
5	CTCF	chr11:107787360-107787510	HVMF	connective:	n/a	n/a
6	CTCF	chr11:107787740-107787890	NHLF	lung:	n/a	n/a
7	CTCF	chr11:107787740-107787890	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr11:107787400-107787550	GM12878	blood:	n/a	n/a
9	CTCF	chr11:107787359-107787681	K562	blood:	n/a	n/a
10	CTCF	chr11:107787703-107787984	K562	blood:	n/a	n/a
11	CTCF	chr11:107787740-107787890	GM12866	blood:	n/a	n/a
12	CTCF	chr11:107779043-107779528	T-47D	breast:	n/a	n/a
13	CTCF	chr11:107787760-107787910	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr11:107787760-107787910	GM12874	blood:	n/a	n/a
15	CTCF	chr11:107787680-107787830	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:107787166-107787273	GM19239	blood:	n/a	n/a
17	CTCF	chr11:107787720-107787870	GM06990	blood:	n/a	n/a
18	CTCF	chr11:107787400-107787550	SAEC	small airway:	n/a	n/a
19	CTCF	chr11:107787360-107787510	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr11:107787700-107787850	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr11:107786440-107786590	GM12872	blood:	n/a	n/a
22	CTCF	chr11:107787320-107787470	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr11:107787696-107787961	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:107788124-107788148	NHEK	skin:	n/a	n/a
25	CTCF	chr11:107787420-107787570	SAEC	small airway:	n/a	n/a
26	CTCF	chr11:107787400-107787550	AG04449	skin:	n/a	n/a
27	CTCF	chr11:107787374-107787572	LNCaP	prostate:	n/a	n/a
28	CTCF	chr11:107787740-107787890	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr11:107786280-107786430	GM12872	blood:	n/a	n/a
30	CTCF	chr11:107787400-107787550	HPF	lung:	n/a	n/a
31	CTCF	chr11:107787400-107787550	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr11:107787425-107787527	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr11:107787162-107787163	GM19239	blood:	n/a	n/a
34	CTCF	chr11:107787400-107787550	GM12864	blood:	n/a	n/a
35	CTCF	chr11:107787809-107787812	GM13976	blood:	n/a	n/a
36	CTCF	chr11:107787700-107787850	GM12878	blood:	n/a	n/a
37	CTCF	chr11:107787375-107787593	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr11:107787130-107788008	GM19238	blood:	n/a	n/a
39	CTCF	chr11:107787295-107787657	GM12891	blood:	n/a	n/a
40	CTCF	chr11:107787740-107787890	HL-60	blood:	n/a	n/a
41	CTCF	chr11:107787674-107787939	GM19239	blood:	n/a	n/a
42	CTCF	chr11:107787840-107787990	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:107787740-107787890	GM12875	blood:	n/a	n/a
44	CTCF	chr11:107788039-107788169	GM12891	blood:	n/a	n/a
45	CTCF	chr11:107787420-107787570	HMEC	breast:	n/a	n/a
46	CTCF	chr11:107787376-107787557	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr11:107787343-107787648	Medullo	brain:	n/a	n/a
48	CTCF	chr11:107787400-107787550	K562	blood:	n/a	n/a
49	CTCF	chr11:107787400-107787550	HCFaa	heart:	n/a	n/a
50	CTCF	chr11:107788083-107788151	GM20000	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107779149-107779199	AG04450	lung:	fetal
2	chr11:107779099-107779149	GM12891	blood:	n/a
3	chr11:107779149-107779199	AG10803	skin:	n/a
4	chr11:107779149-107779199	HCF	heart:	n/a
5	chr11:107779149-107779199	GM12892	blood:	n/a
6	chr11:107779099-107779149	SKMC	muscle:	n/a
7	chr11:107779099-107779149	GM19239	blood:	n/a
8	chr11:107779099-107779149	PANC-1	pancreas:	n/a
9	chr11:107779099-107779149	U87	brain:	n/a
10	chr11:107779099-107779149	NB4	blood:	n/a
11	chr11:107779099-107779149	ovcar-3	ovarian:	n/a
12	chr11:107779149-107779199	MCF10A-Er-Src	breast:	n/a
13	chr11:107779149-107779199	SAEC	small airway:	n/a
14	chr11:107779149-107779199	LNCaP	prostate:	n/a
15	chr11:107779099-107779149	HEK293	kidney:	embryo
16	chr11:107779149-107779199	HEK293	kidney:	embryo
17	chr11:107779099-107779149	K562	blood:	n/a
18	chr11:107779149-107779199	HEEpiC	esophagus:	n/a
19	chr11:107779149-107779199	AoSMC	blood vessel:	n/a
20	chr11:107779099-107779149	Jurkat	blood:	n/a
21	chr11:107779099-107779149	HCT-116	colon:	n/a
22	chr11:107779149-107779199	NHDF-neo	bronchial:	n/a
23	chr11:107779099-107779149	AG09319	gingival:	n/a
24	chr11:107779149-107779199	HRCEpiC	kidney:	n/a
25	chr11:107779149-107779199	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:107779099-107779149	HUVEC	blood vessel:	n/a
27	chr11:107779099-107779149	HCPEpiC	choroid plexus:	n/a
28	chr11:107779149-107779199	Caco-2	colon:	n/a
29	chr11:107779099-107779149	PFSK-1	brain:	n/a
30	chr11:107779149-107779199	GM06990	blood:	n/a
31	chr11:107779099-107779149	GM12878	blood:	n/a
32	chr11:107779149-107779199	HCT-116	colon:	n/a
33	chr11:107779099-107779149	NHBE	bronchial:	n/a
34	chr11:107779099-107779149	SK-N-MC	brain:	n/a
35	chr11:107779099-107779149	HRPEpiC	eye:	n/a
36	chr11:107779099-107779149	AG10803	skin:	n/a
37	chr11:107779099-107779149	NHDF-neo	bronchial:	n/a
38	chr11:107779099-107779149	ProgFib	skin:	n/a
39	chr11:107779149-107779199	HUVEC	blood vessel:	n/a
40	chr11:107779099-107779149	HCM	heart:	n/a
41	chr11:107779149-107779199	SK-N-SH	brain:	n/a
42	chr11:107779149-107779199	HCPEpiC	choroid plexus:	n/a
43	chr11:107779099-107779149	HMEC	breast:	n/a
44	chr11:107779099-107779149	ECC-1	luminal epithelium:	n/a
45	chr11:107779149-107779199	SKMC	muscle:	n/a
46	chr11:107779149-107779199	HMEC	breast:	n/a
47	chr11:107779099-107779149	MCF-7	breast:	n/a
48	chr11:107779099-107779149	HCF	heart:	n/a
49	chr11:107779149-107779199	HepG2	liver:	n/a
50	chr11:107779149-107779199	K562	blood:	n/a

No data

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

Extended variants
information (count: 275 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12286870	chr11:107776667-107776668	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567879620	chr11:107776701-107776702	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549362355	chr11:107776718-107776719	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs7128631	chr11:107776758-107776759	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs532059452	chr11:107776837-107776838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73548894	chr11:107776852-107776853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112817340	chr11:107776924-107776925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571630959	chr11:107777056-107777057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552137920	chr11:107777194-107777195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558058080	chr11:107777195-107777196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552905	chr11:107777210-107777211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370092278	chr11:107777212-107777213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555262476	chr11:107777314-107777315	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs117947079	chr11:107777321-107777322	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372009636	chr11:107777336-107777337	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs537495948	chr11:107777387-107777388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs555850238	chr11:107777391-107777392	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531229919	chr11:107777418-107777419	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570168805	chr11:107777429-107777430	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs544624938	chr11:107777463-107777464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs76772415	chr11:107777488-107777489	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572634046	chr11:107777554-107777555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113957613	chr11:107777564-107777565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139194900	chr11:107777566-107777567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150631131	chr11:107777612-107777613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561318164	chr11:107777616-107777617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531945665	chr11:107777655-107777656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550267210	chr11:107777718-107777719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565402022	chr11:107777725-107777726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532682950	chr11:107777776-107777777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372707028	chr11:107777780-107777781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547798002	chr11:107777835-107777836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1261760	chr11:107777856-107777857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182412478	chr11:107777941-107777942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9736577	chr11:107777964-107777965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535936371	chr11:107777974-107777975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555754284	chr11:107778020-107778021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369934871	chr11:107778028-107778029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376247183	chr11:107778046-107778047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544582002	chr11:107778069-107778070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549263957	chr11:107778126-107778127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141415924	chr11:107778196-107778197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527638871	chr11:107778197-107778198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184341324	chr11:107778202-107778203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200124474	chr11:107778212-107778213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34505095	chr11:107778215-107778216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34610685	chr11:107778217-107778218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555811407	chr11:107778231-107778232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572236155	chr11:107778266-107778267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577295401	chr11:107778319-107778320	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:14 , 50 per page) page: 1

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

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