Variant report

Variant	nsv1054282
Chromosome Location	chr11:51228076-51564415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
5	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:51250210-51250379	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:51292058-51292433	K562	blood:	n/a	n/a
8	BHLHE40	chr11:51365084-51365098	K562	blood:	n/a	n/a
9	CBX3	chr11:51560519-51560757	K562	blood:	n/a	n/a
10	CEBPB	chr11:51250144-51250513	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr11:51402176-51402431	A549	lung:	n/a	n/a
12	CEBPB	chr11:51472743-51472929	A549	lung:	n/a	n/a
13	CEBPB	chr11:51402232-51402435	IMR90	lung:	n/a	n/a
14	CEBPB	chr11:51462374-51462420	HepG2	liver:	n/a	chr11:51462402-51462413 chr11:51462402-51462411 chr11:51462402-51462411 chr11:51462400-51462411 chr11:51462402-51462411 chr11:51462402-51462411
15	CEBPB	chr11:51492183-51492261	HepG2	liver:	n/a	n/a
16	CEBPB	chr11:51510982-51511112	HepG2	liver:	n/a	chr11:51511049-51511060
17	CEBPB	chr11:51292060-51292433	K562	blood:	n/a	n/a
18	CHD1	chr11:51250145-51250515	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr11:51250149-51250349	GM12878	blood:	n/a	n/a
20	CHD2	chr11:51365084-51365111	K562	blood:	n/a	n/a
21	CHD2	chr11:51250313-51250347	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr11:51292059-51292433	K562	blood:	n/a	n/a
23	CTCF	chr11:51560020-51560170	GM06990	blood:	n/a	n/a
24	CTCF	chr11:51356996-51357098	GM20000	blood:	n/a	n/a
25	CTCF	chr11:51560060-51560210	GM12874	blood:	n/a	n/a
26	CTCF	chr11:51559960-51560110	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr11:51558451-51558482	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr11:51263997-51264069	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:51560040-51560190	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr11:51560077-51560180	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:51263860-51264010	NHEK	skin:	n/a	n/a
32	CTCF	chr11:51467472-51467564	GM10248	blood:	n/a	n/a
33	CTCF	chr11:51263993-51264057	GM19240	blood:	n/a	n/a
34	CTCF	chr11:51264002-51264039	K562	blood:	n/a	n/a
35	CTCF	chr11:51263860-51264010	GM12878	blood:	n/a	n/a
36	CTCF	chr11:51560126-51560152	GM12878	blood:	n/a	n/a
37	CTCF	chr11:51263880-51264030	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr11:51263925-51264131	A549	lung:	n/a	n/a
39	CTCF	chr11:51485343-51485395	GM10248	blood:	n/a	n/a
40	CTCF	chr11:51560020-51560170	GM12873	blood:	n/a	n/a
41	CTCF	chr11:51559988-51560277	K562	blood:	n/a	n/a
42	CTCF	chr11:51263990-51264020	ProgFib	skin:	n/a	n/a
43	CTCF	chr11:51492377-51492425	GM20000	blood:	n/a	n/a
44	CTCF	chr11:51426649-51426735	GM13976	blood:	n/a	n/a
45	CTCF	chr11:51560054-51560247	K562	blood:	n/a	n/a
46	CTCF	chr11:51560060-51560210	HMF	breast:	n/a	n/a
47	CTCF	chr11:51405020-51405170	HEK293	kidney:	n/a	n/a
48	CTCF	chr11:51563621-51563660	GM10248	blood:	n/a	n/a
49	CTCF	chr11:51263880-51264030	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr11:51559600-51559750	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:51413644-51413694	AG10803	skin:	n/a
2	chr11:51411541-51411591	HCM	heart:	n/a
3	chr11:51515596-51515646	HRE	kidney:	n/a
4	chr11:51515596-51515646	NB4	blood:	n/a
5	chr11:51411541-51411591	HCT-116	colon:	n/a
6	chr11:51515596-51515646	IMR90	lung:	fetal
7	chr11:51411541-51411591	GM19239	blood:	n/a
8	chr11:51515083-51515133	HRE	kidney:	n/a
9	chr11:51515083-51515133	BJ	skin:	n/a
10	chr11:51411541-51411591	GM12878	blood:	n/a
11	chr11:51413644-51413694	HCPEpiC	choroid plexus:	n/a
12	chr11:51515596-51515646	H1-hESC	embryonic stem cell:	embryo
13	chr11:51515083-51515133	Jurkat	blood:	n/a
14	chr11:51515083-51515133	HRCEpiC	kidney:	n/a
15	chr11:51413644-51413694	NHDF-neo	bronchial:	n/a
16	chr11:51411541-51411591	AG09319	gingival:	n/a
17	chr11:51413644-51413694	HIPEpiC	eye:	n/a
18	chr11:51515596-51515646	HCM	heart:	n/a
19	chr11:51411541-51411591	SK-N-SH_RA	brain:	n/a
20	chr11:51515083-51515133	IMR90	lung:	fetal
21	chr11:51515596-51515646	AG10803	skin:	n/a
22	chr11:51515083-51515133	CMK	blood:	n/a
23	chr11:51515083-51515133	NT2-D1	testis:	n/a
24	chr11:51515083-51515133	HCM	heart:	n/a
25	chr11:51515596-51515646	BE2_C	brain:	n/a
26	chr11:51413644-51413694	BE2_C	brain:	n/a
27	chr11:51411541-51411591	AG09309	skin:	n/a
28	chr11:51515083-51515133	AG04449	skin:	fetal
29	chr11:51515083-51515133	NHBE	bronchial:	n/a
30	chr11:51515596-51515646	HL-60	blood:	n/a
31	chr11:51515596-51515646	AG04450	lung:	fetal
32	chr11:51411541-51411591	HMEC	breast:	n/a
33	chr11:51413644-51413694	HRE	kidney:	n/a
34	chr11:51515083-51515133	PrEC	prostate:	n/a
35	chr11:51515083-51515133	T-47D	breast:	n/a
36	chr11:51515596-51515646	AG09319	gingival:	n/a
37	chr11:51413644-51413694	CMK	blood:	n/a
38	chr11:51413644-51413694	HUVEC	blood vessel:	n/a
39	chr11:51413644-51413694	SK-N-MC	brain:	n/a
40	chr11:51515083-51515133	HRPEpiC	eye:	n/a
41	chr11:51515083-51515133	HCPEpiC	choroid plexus:	n/a
42	chr11:51515083-51515133	H1-hESC	embryonic stem cell:	embryo
43	chr11:51413644-51413694	AG09319	gingival:	n/a
44	chr11:51515083-51515133	GM12892	blood:	n/a
45	chr11:51411541-51411591	T-47D	breast:	n/a
46	chr11:51413644-51413694	PANC-1	pancreas:	n/a
47	chr11:51413644-51413694	HRPEpiC	eye:	n/a
48	chr11:51515083-51515133	AoSMC	blood vessel:	n/a
49	chr11:51411541-51411591	Hepatocyte	liver:	n/a
50	chr11:51411541-51411591	GM12891	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C46-1	chr11:51461564-51462160	NONHSAT021349
2	lnc-OR4A5-2	chr11:51455830-51456700	NONHSAT021348
3	lnc-OR4C46-2	chr11:51560165-51560173	NONHSAT021350

No data

Variant related genes	Relation type
OR4A3P	TF binding region
OR4A8P	TF binding region
OR4C50P	TF binding region
OR4A7P	TF binding region
OR4C7P	TF binding region
ENSG00000264637	TF binding region
OR4R2P	TF binding region
OR4A5	TF binding region
OR4A6P	TF binding region
OR4A2P	TF binding region
OR4A4P	TF binding region
OR4C46	TF binding region
OR4A3P	CpG island
OR4A8P	CpG island
OR4C50P	CpG island
OR4A7P	CpG island
OR4C7P	CpG island
ENSG00000264637	CpG island
OR4R2P	CpG island
OR4A5	CpG island
OR4A6P	CpG island
OR4A2P	CpG island
OR4A4P	CpG island
OR4C46	CpG island

Extended variants
information (count: 7928 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:7928 , 50 per page) page: 1 2 3 4 5 6 7 ... 159

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564392414	chr11:51228088-51228089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567025942	chr11:51228105-51228106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539145473	chr11:51228114-51228115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146623047	chr11:51228124-51228125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs8189140	chr11:51228126-51228127	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs191156251	chr11:51228137-51228138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs8189141	chr11:51228146-51228147	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs372358562	chr11:51228175-51228176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574380503	chr11:51228179-51228180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540095486	chr11:51228186-51228187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553552703	chr11:51228204-51228205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs141362636	chr11:51228206-51228207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs545896140	chr11:51228235-51228236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562426447	chr11:51228239-51228240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs563294163	chr11:51228240-51228241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs541839669	chr11:51228243-51228244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561628486	chr11:51228250-51228251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs386753557	chr11:51228256-51228257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182526440	chr11:51228328-51228329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201741642	chr11:51228378-51228379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201374092	chr11:51228379-51228380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs369109143	chr11:51228380-51228381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs60319901	chr11:51228381-51228382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs4285858	chr11:51228404-51228405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs560753151	chr11:51228430-51228431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs188443427	chr11:51228442-51228443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs61917631	chr11:51228449-51228450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552668972	chr11:51228453-51228454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs550535963	chr11:51228456-51228457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569250733	chr11:51228461-51228462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555504760	chr11:51228462-51228463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs146826708	chr11:51228484-51228485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs568067197	chr11:51228499-51228500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs533856818	chr11:51228500-51228501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553613661	chr11:51228508-51228509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371891546	chr11:51228512-51228513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576999968	chr11:51228525-51228526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs144079689	chr11:51228540-51228541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549044919	chr11:51228563-51228564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs190152750	chr11:51228572-51228573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556268098	chr11:51228590-51228591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs182422786	chr11:51228621-51228622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565651971	chr11:51228654-51228655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs113006792	chr11:51228678-51228679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561691181	chr11:51228693-51228694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78181357	chr11:51228729-51228730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187459793	chr11:51228733-51228734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192011449	chr11:51228734-51228735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs11246431	chr11:51228748-51228749	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532788909	chr11:51228754-51228755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51226800-51229000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr11:51226800-51230000	ZNF genes & repeats	Liver	Liver
3	chr11:51227000-51228400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr11:51229000-51245600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:51231000-51232800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr11:51232000-51236800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr11:51232000-51237600	ZNF genes & repeats	Liver	Liver
8	chr11:51232800-51239000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:51233600-51234000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr11:51234000-51234400	Active TSS	Aorta	Aorta
11	chr11:51235600-51237800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr11:51237200-51241600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr11:51238600-51241400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr11:51241200-51241800	Active TSS	Aorta	Aorta
15	chr11:51242000-51245200	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr11:51248600-51251000	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr11:51248600-51256800	ZNF genes & repeats	Liver	Liver
18	chr11:51248800-51249200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr11:51249800-51251000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr11:51249800-51257000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:51250000-51256400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr11:51250000-51256800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr11:51250200-51250400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
24	chr11:51250200-51250400	ZNF genes & repeats	HUVEC	blood vessel
25	chr11:51250200-51250600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr11:51250200-51250600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:51250200-51250600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:51250200-51250600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
29	chr11:51250200-51250600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr11:51250200-51250600	ZNF genes & repeats	Brain Anterior Caudate	brain
31	chr11:51250200-51250600	ZNF genes & repeats	Left Ventricle	heart
32	chr11:51250200-51250600	ZNF genes & repeats	HMEC	breast
33	chr11:51250200-51250600	ZNF genes & repeats	NH-A	brain
34	chr11:51250200-51250800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:51250200-51251000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr11:51251800-51257600	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr11:51253200-51254600	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr11:51259000-51261200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:51259600-51260400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr11:51259600-51260600	ZNF genes & repeats	Liver	Liver
41	chr11:51260600-51263400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr11:51264400-51267000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr11:51265000-51268000	ZNF genes & repeats	Liver	Liver
44	chr11:51265600-51268000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:51269000-51269400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:51285800-51289000	ZNF genes & repeats	Liver	Liver
47	chr11:51285800-51293200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr11:51285800-51295600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:51286000-51309000	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr11:51287600-51288400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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