Variant report

Variant	esv1814281
Chromosome Location	chr11:51194488-51361832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:326)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:51250147-51250516	HepG2	liver:	n/a	n/a
2	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
3	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
4	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
6	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
7	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
8	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
9	BCL11A	chr11:51199061-51199240	GM12878	blood:	n/a	n/a
10	BCL11A	chr11:51199021-51199258	GM12878	blood:	n/a	n/a
11	BCL11A	chr11:51250210-51250379	GM12878	blood:	n/a	n/a
12	BHLHE40	chr11:51199086-51199260	HepG2	liver:	n/a	n/a
13	BHLHE40	chr11:51292058-51292433	K562	blood:	n/a	n/a
14	BRCA1	chr11:51219236-51219610	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr11:51250144-51250513	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr11:51292060-51292433	K562	blood:	n/a	n/a
17	CHD1	chr11:51250149-51250349	GM12878	blood:	n/a	n/a
18	CHD1	chr11:51250145-51250515	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr11:51219237-51219610	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr11:51250313-51250347	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr11:51292059-51292433	K562	blood:	n/a	n/a
22	CTCF	chr11:51263860-51264010	GM12873	blood:	n/a	n/a
23	CTCF	chr11:51263880-51264030	BE2_C	brain:	n/a	n/a
24	CTCF	chr11:51263990-51264020	ProgFib	skin:	n/a	n/a
25	CTCF	chr11:51263860-51264010	GM12878	blood:	n/a	n/a
26	CTCF	chr11:51263925-51264066	A549	lung:	n/a	n/a
27	CTCF	chr11:51263840-51263990	HCT-116	colon:	n/a	n/a
28	CTCF	chr11:51263860-51264010	GM12875	blood:	n/a	n/a
29	CTCF	chr11:51263880-51264030	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr11:51263980-51264130	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr11:51263997-51264069	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:51263985-51264072	GM12892	blood:	n/a	n/a
33	CTCF	chr11:51263880-51264030	K562	blood:	n/a	n/a
34	CTCF	chr11:51263960-51264130	Gliobla	brain:	n/a	n/a
35	CTCF	chr11:51263880-51264030	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr11:51263860-51264010	NHEK	skin:	n/a	n/a
37	CTCF	chr11:51274589-51274614	LNCaP	prostate:	n/a	n/a
38	CTCF	chr11:51263880-51264030	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr11:51263860-51264010	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr11:51263980-51264130	HCFaa	heart:	n/a	n/a
41	CTCF	chr11:51263880-51264030	HEK293	kidney:	n/a	n/a
42	CTCF	chr11:51274660-51274810	GM12867	blood:	n/a	n/a
43	CTCF	chr11:51263880-51264030	GM12873	blood:	n/a	n/a
44	CTCF	chr11:51337250-51337288	GM13976	blood:	n/a	n/a
45	CTCF	chr11:51246378-51246410	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr11:51263880-51264030	GM12868	blood:	n/a	n/a
47	CTCF	chr11:51264002-51264039	K562	blood:	n/a	n/a
48	CTCF	chr11:51356996-51357098	GM20000	blood:	n/a	n/a
49	CTCF	chr11:51281140-51281290	GM12865	blood:	n/a	n/a
50	CTCF	chr11:51263840-51263990	GM12872	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000264637	TF binding region

Extended variants
information (count: 8291 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:8291 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8189014	chr11:51194488-51194489	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559533033	chr11:51194512-51194513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371737128	chr11:51194514-51194515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs140427044	chr11:51194543-51194544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs4397831	chr11:51194562-51194563	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117742846	chr11:51194602-51194603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs570310958	chr11:51194635-51194636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536041279	chr11:51194655-51194656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549525184	chr11:51194669-51194670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs566183082	chr11:51194678-51194679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551787284	chr11:51194686-51194687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558141356	chr11:51194713-51194714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571503359	chr11:51194725-51194726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs115157033	chr11:51194729-51194730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs144301241	chr11:51194742-51194743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs117853985	chr11:51194752-51194753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs376398182	chr11:51194767-51194768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11534643	chr11:51194768-51194769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115540852	chr11:51194779-51194780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189477510	chr11:51194798-51194799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs544739811	chr11:51194801-51194802	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114470582	chr11:51194821-51194822	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs4421728	chr11:51194826-51194827	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112973413	chr11:51194845-51194846	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182179579	chr11:51194846-51194847	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529580998	chr11:51194856-51194857	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550570651	chr11:51194870-51194871	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185134652	chr11:51194914-51194915	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs151153412	chr11:51194943-51194944	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551579711	chr11:51194952-51194953	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571654522	chr11:51194996-51194997	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369881042	chr11:51195016-51195017	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188786561	chr11:51195017-51195018	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs56695160	chr11:51195032-51195033	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12574060	chr11:51195051-51195052	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs377209332	chr11:51195075-51195076	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs386753550	chr11:51195088-51195089	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs7294177	chr11:51195092-51195093	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566668492	chr11:51195098-51195099	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369005348	chr11:51195107-51195108	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11530945	chr11:51195124-51195125	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529622766	chr11:51195152-51195153	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200601431	chr11:51195176-51195177	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs375716392	chr11:51195209-51195210	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4635064	chr11:51195211-51195212	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145827705	chr11:51195271-51195272	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs528667715	chr11:51195284-51195285	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75523387	chr11:51195292-51195293	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551885828	chr11:51195303-51195304	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571629563	chr11:51195305-51195306	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Mortal	21835882	CNVD
Breast cancer	21785460	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Bipolar disorder	19214233	CNVD
Cancer	20164919	CNVD
Williams Syndrome	20824207	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51191000-51222800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:51194400-51205400	ZNF genes & repeats	Liver	Liver
3	chr11:51194800-51195600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:51198000-51203200	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr11:51198200-51199800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr11:51199000-51203200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr11:51202200-51202600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:51204000-51205200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:51206200-51209200	ZNF genes & repeats	Liver	Liver
10	chr11:51206600-51207000	Active TSS	Fetal Heart	heart
11	chr11:51206800-51211800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr11:51208800-51209800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr11:51210000-51212000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:51210400-51220200	ZNF genes & repeats	Liver	Liver
15	chr11:51211200-51216200	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr11:51212800-51223200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr11:51213000-51217000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:51213400-51221000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr11:51219200-51221400	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr11:51219400-51219600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr11:51219400-51219600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr11:51226800-51229000	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr11:51226800-51230000	ZNF genes & repeats	Liver	Liver
24	chr11:51227000-51228400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr11:51229000-51245600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:51231000-51232800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr11:51232000-51236800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr11:51232000-51237600	ZNF genes & repeats	Liver	Liver
29	chr11:51232800-51239000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr11:51233600-51234000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr11:51234000-51234400	Active TSS	Aorta	Aorta
32	chr11:51235600-51237800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr11:51237200-51241600	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr11:51238600-51241400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr11:51241200-51241800	Active TSS	Aorta	Aorta
36	chr11:51242000-51245200	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr11:51248600-51251000	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr11:51248600-51256800	ZNF genes & repeats	Liver	Liver
39	chr11:51248800-51249200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr11:51249800-51251000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr11:51249800-51257000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:51250000-51256400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr11:51250000-51256800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr11:51250200-51250400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
45	chr11:51250200-51250400	ZNF genes & repeats	HUVEC	blood vessel
46	chr11:51250200-51250600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr11:51250200-51250600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:51250200-51250600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:51250200-51250600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr11:51250200-51250600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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