Variant report

Variant	esv14338
Chromosome Location	chr11:50291456-50382519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:50381201-50381204	K562	blood:	n/a	n/a
2	CTCF	chr11:50372648-50372696	LNCaP	prostate:	n/a	n/a
3	CTCF	chr11:50293189-50293335	NHEK	skin:	n/a	n/a
4	CTCF	chr11:50317679-50317740	GM13976	blood:	n/a	n/a
5	CTCF	chr11:50382479-50382654	K562	blood:	n/a	n/a
6	CTCF	chr11:50382446-50382672	IMR90	lung:	n/a	n/a
7	CTCF	chr11:50376015-50376061	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr11:50318115-50318201	GM10266	blood:	n/a	n/a
9	CTCF	chr11:50304509-50304621	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr11:50305210-50305247	GM20000	blood:	n/a	n/a
11	CTCF	chr11:50316423-50316519	GM10266	blood:	n/a	n/a
12	CTCF	chr11:50300095-50300112	GM10248	blood:	n/a	n/a
13	CTCF	chr11:50312320-50312366	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr11:50293200-50293350	SAEC	small airway:	n/a	n/a
15	CTCF	chr11:50294779-50294808	GM20000	blood:	n/a	n/a
16	CTCF	chr11:50305777-50305808	Lung_OC	lung:	n/a	n/a
17	CUX1	chr11:50360922-50360959	GM12878	blood:	n/a	n/a
18	E2F4	chr11:50369680-50369722	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr11:50337674-50337737	GM12878	blood:	n/a	n/a
20	FOS	chr11:50293131-50293138	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr11:50291697-50291896	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:50291698-50291895	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:50293136-50293277	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL2	chr11:50296224-50296441	HepG2	liver:	n/a	chr11:50296386-50296395 chr11:50296388-50296397
25	FOXA2	chr11:50296123-50296491	A549	lung:	n/a	n/a
26	GABPA	chr11:50296318-50296402	HepG2	liver:	n/a	n/a
27	GATA2	chr11:50346724-50347094	HUVEC	blood vessel:	n/a	n/a
28	IRF1	chr11:50332522-50332547	K562	blood:	n/a	n/a
29	KAP1	chr11:50340952-50341405	HEK293	kidney:	n/a	n/a
30	KAP1	chr11:50357812-50358185	K562	blood:	n/a	n/a
31	KAP1	chr11:50339882-50340119	K562	blood:	n/a	n/a
32	MAFF	chr11:50338662-50338991	HepG2	liver:	n/a	chr11:50338843-50338861
33	MAFF	chr11:50337312-50337551	HepG2	liver:	n/a	chr11:50337388-50337406
34	MAFK	chr11:50338667-50339002	HepG2	liver:	n/a	chr11:50338844-50338859
35	MAFK	chr11:50338783-50338983	K562	blood:	n/a	chr11:50338844-50338859
36	MAFK	chr11:50324542-50324720	HepG2	liver:	n/a	n/a
37	MAFK	chr11:50338674-50339059	IMR90	lung:	n/a	chr11:50338844-50338859
38	MAFK	chr11:50338695-50338992	HepG2	liver:	n/a	chr11:50338844-50338859
39	MAFK	chr11:50337232-50337556	HepG2	liver:	n/a	chr11:50337389-50337404
40	MAFK	chr11:50339474-50339674	HepG2	liver:	n/a	n/a
41	MAFK	chr11:50338726-50338979	Hela-S3	cervix:	n/a	chr11:50338844-50338859
42	MAFK	chr11:50337282-50337544	HepG2	liver:	n/a	chr11:50337389-50337404
43	MAX	chr11:50335370-50335401	GM12878	blood:	n/a	n/a
44	MYC	chr11:50371255-50371278	MCF-7	breast:	n/a	n/a
45	MYC	chr11:50371596-50371625	MCF-7	breast:	n/a	n/a
46	MYC	chr11:50371491-50371506	MCF-7	breast:	n/a	n/a
47	MYC	chr11:50296710-50296761	K562	blood:	n/a	n/a
48	MYC	chr11:50371548-50371585	MCF-7	breast:	n/a	n/a
49	MYC	chr11:50318694-50318744	MCF-7	breast:	n/a	chr11:50318728-50318738
50	MYC	chr11:50371594-50371595	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:50368251-50368301	AoSMC	blood vessel:	n/a
2	chr11:50371681-50371731	NH-A	brain:	n/a
3	chr11:50368251-50368301	HIPEpiC	eye:	n/a
4	chr11:50368251-50368301	AG09309	skin:	n/a
5	chr11:50371681-50371731	HepG2	liver:	n/a
6	chr11:50368251-50368301	SK-N-SH_RA	brain:	n/a
7	chr11:50371681-50371731	NHDF-neo	bronchial:	n/a
8	chr11:50371681-50371731	MCF-7	breast:	n/a
9	chr11:50371681-50371731	IMR90	lung:	fetal
10	chr11:50368251-50368301	SK-N-SH	brain:	n/a
11	chr11:50368251-50368301	RPTEC	kidney:	n/a
12	chr11:50371681-50371731	BJ	skin:	n/a
13	chr11:50371681-50371731	GM12891	blood:	n/a
14	chr11:50368251-50368301	AG10803	skin:	n/a
15	chr11:50371681-50371731	HRCEpiC	kidney:	n/a
16	chr11:50368251-50368301	MCF10A-Er-Src	breast:	n/a
17	chr11:50371681-50371731	H1-hESC	embryonic stem cell:	embryo
18	chr11:50368251-50368301	SKMC	muscle:	n/a
19	chr11:50368251-50368301	NHDF-neo	bronchial:	n/a
20	chr11:50368251-50368301	AG04450	lung:	fetal
21	chr11:50368251-50368301	NH-A	brain:	n/a
22	chr11:50371681-50371731	HCM	heart:	n/a
23	chr11:50371681-50371731	PrEC	prostate:	n/a
24	chr11:50371681-50371731	HNPCEpiC	eye:	n/a
25	chr11:50371681-50371731	Hepatocyte	liver:	n/a
26	chr11:50371681-50371731	NB4	blood:	n/a
27	chr11:50368251-50368301	BE2_C	brain:	n/a
28	chr11:50368251-50368301	HMEC	breast:	n/a
29	chr11:50368251-50368301	MCF-7	breast:	n/a
30	chr11:50368251-50368301	IMR90	lung:	fetal
31	chr11:50368251-50368301	NT2-D1	testis:	n/a
32	chr11:50371681-50371731	SK-N-SH	brain:	n/a
33	chr11:50371681-50371731	HL-60	blood:	n/a
34	chr11:50368251-50368301	HRPEpiC	eye:	n/a
35	chr11:50371681-50371731	K562	blood:	n/a
36	chr11:50371681-50371731	HCPEpiC	choroid plexus:	n/a
37	chr11:50368251-50368301	T-47D	breast:	n/a
38	chr11:50371681-50371731	GM12878	blood:	n/a
39	chr11:50371681-50371731	RPTEC	kidney:	n/a
40	chr11:50371681-50371731	ovcar-3	ovarian:	n/a
41	chr11:50368251-50368301	SAEC	small airway:	n/a
42	chr11:50371681-50371731	ECC-1	luminal epithelium:	n/a
43	chr11:50368251-50368301	HRE	kidney:	n/a
44	chr11:50371681-50371731	Jurkat	blood:	n/a
45	chr11:50371681-50371731	GM06990	blood:	n/a
46	chr11:50368251-50368301	ovcar-3	ovarian:	n/a
47	chr11:50368251-50368301	HCM	heart:	n/a
48	chr11:50368251-50368301	PANC-1	pancreas:	n/a
49	chr11:50371681-50371731	AG04449	skin:	fetal
50	chr11:50368251-50368301	BJ	skin:	n/a

No data

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C13-7	chr11:50302810-50302996	NONHSAT021339
2	lnc-OR4C13-9	chr11:50375235-50375391	NONHSAT021344
3	lnc-OR4C13-7	chr11:50301870-50302020	NONHSAT021343
4	lnc-OR4C13-9	chr11:50379775-50379803	NONHSAT021345
5	lnc-OR4C13-9	chr11:50379775-50379802	NR_024504
6	lnc-OR4C13-9	chr11:50379313-50379548	NR_024504
7	lnc-OR4C13-9	chr11:50376439-50376850	NONHSAT021344
8	lnc-OR4C13-9	chr11:50378065-50378165	NONHSAT021344
9	lnc-OR4C13-9	chr11:50375274-50375391	NR_024504
10	lnc-OR4C13-7	chr11:50302810-50303035	NONHSAT021343
11	lnc-OR4C13-7	chr11:50301079-50301142	NONHSAT021343
12	lnc-OR4C13-9	chr11:50376439-50376850	NONHSAT021345
13	lnc-OR4C13-9	chr11:50375235-50375391	NONHSAT021345
14	lnc-OR4C13-7	chr11:50320710-50320877	NONHSAT021340
15	lnc-OR4C13-9	chr11:50368318-50368359	NR_024504
16	lnc-OR4C13-7	chr11:50320143-50320239	NONHSAT021340
17	lnc-OR4C13-7	chr11:50313156-50313246	NONHSAT021340
18	lnc-OR4C13-9	chr11:50368318-50368359	NONHSAT021344
19	lnc-OR4C13-9	chr11:50378065-50378165	NR_024504
20	lnc-OR4C13-9	chr11:50368739-50368821	NR_024504
21	lnc-OR4C13-7	chr11:50302810-50303098	NONHSAT021342
22	lnc-OR4C13-9	chr11:50378065-50378165	NONHSAT021345
23	lnc-OR4C13-9	chr11:50379313-50379802	NONHSAT021344
24	lnc-OR4C13-9	chr11:50379313-50379548	NONHSAT021345
25	lnc-OR4C13-9	chr11:50368739-50368821	NONHSAT021344

No data

Variant related genes	Relation type
ENSG00000254840	TF binding region
ENSG00000214883	TF binding region
ENSG00000254840	CpG island
ENSG00000214883	CpG island

Extended variants
information (count: 2895 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2895 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560878713	chr11:50295803-50295804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143401472	chr11:50295807-50295808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539947694	chr11:50295814-50295815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548591334	chr11:50295847-50295848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560230155	chr11:50295895-50295896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191994026	chr11:50295896-50295897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376368019	chr11:50295956-50295957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145547299	chr11:50295964-50295965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148872553	chr11:50296006-50296007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186565838	chr11:50296007-50296008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191751240	chr11:50296038-50296039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539376315	chr11:50296042-50296043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4090123	chr11:50296059-50296060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182394716	chr11:50296088-50296089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199974326	chr11:50296121-50296122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200930393	chr11:50296132-50296133	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563193748	chr11:50296142-50296143	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs188672575	chr11:50296147-50296148	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs61893105	chr11:50296155-50296156	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144432644	chr11:50296183-50296184	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs148006595	chr11:50296202-50296203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554091400	chr11:50296203-50296204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs1854691	chr11:50296210-50296211	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549476083	chr11:50296223-50296224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs145659354	chr11:50296239-50296240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192895745	chr11:50296284-50296285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111621618	chr11:50296328-50296329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185846534	chr11:50296331-50296332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs12225736	chr11:50296355-50296356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs1995048	chr11:50296358-50296359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs58037290	chr11:50296381-50296382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs71051745	chr11:50296384-50296385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs200404488	chr11:50296386-50296387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs200934491	chr11:50296387-50296388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs374863150	chr11:50296388-50296389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs60819379	chr11:50296397-50296398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs28695554	chr11:50296401-50296402	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377213031	chr11:50296402-50296403	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs1928731	chr11:50296403-50296404	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370071413	chr11:50296409-50296410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs527803212	chr11:50296484-50296485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547884771	chr11:50296486-50296487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552011107	chr11:50296710-50296711	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs377708155	chr11:50296726-50296727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368057350	chr11:50296739-50296740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370271210	chr11:50300101-50300102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs564380397	chr11:50300105-50300106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs551354110	chr11:50301097-50301098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs564859221	chr11:50301108-50301109	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs530607831	chr11:50301112-50301113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Mortal	21835882	CNVD
Autism	22495309	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Bipolar disorder	19214233	CNVD
Medulloblastoma	21163964	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50295800-50296200	Enhancers	Adipose Nuclei	Adipose
2	chr11:50324400-50325400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:50326400-50345800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:50326600-50328800	ZNF genes & repeats	Liver	Liver
5	chr11:50330000-50331600	ZNF genes & repeats	Liver	Liver
6	chr11:50337400-50343400	ZNF genes & repeats	Liver	Liver
7	chr11:50337600-50341800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr11:50340600-50341400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:50341600-50345800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr11:50342800-50343200	Active TSS	Right Atrium	heart
11	chr11:50344800-50345600	Active TSS	Fetal Heart	heart
12	chr11:50345400-50345600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:50345800-50346800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:50346600-50347000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr11:50346800-50347000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr11:50346800-50347000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
17	chr11:50346800-50347000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:50346800-50347000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr11:50349200-50357800	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr11:50350000-50351800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr11:50350800-50361200	ZNF genes & repeats	Liver	Liver
22	chr11:50351000-50367200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:50352200-50355600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:50353200-50354600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr11:50354600-50359000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr11:50360600-50361000	Active TSS	Fetal Heart	heart
27	chr11:50360600-50363000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:50360600-50363000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr11:50364800-50365200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr11:50371000-50371600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr11:50371400-50372600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:50378000-50378600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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