Variant report

Variant	nsv1048850
Chromosome Location	chr11:51337062-51564415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:198)
CpG islands
(count:247)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:198 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:51365084-51365098	K562	blood:	n/a	n/a
2	CBX3	chr11:51560519-51560757	K562	blood:	n/a	n/a
3	CEBPB	chr11:51402176-51402431	A549	lung:	n/a	n/a
4	CEBPB	chr11:51402232-51402435	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:51472743-51472929	A549	lung:	n/a	n/a
6	CEBPB	chr11:51492183-51492261	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:51510982-51511112	HepG2	liver:	n/a	chr11:51511049-51511060
8	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
9	CHD2	chr11:51365084-51365111	K562	blood:	n/a	n/a
10	CTCF	chr11:51378106-51378166	GM10266	blood:	n/a	n/a
11	CTCF	chr11:51407006-51407062	GM10248	blood:	n/a	n/a
12	CTCF	chr11:51444498-51444564	GM13976	blood:	n/a	n/a
13	CTCF	chr11:51560040-51560190	HMEC	breast:	n/a	n/a
14	CTCF	chr11:51560020-51560170	AG04449	skin:	n/a	n/a
15	CTCF	chr11:51464996-51465053	GM13977	blood:	n/a	n/a
16	CTCF	chr11:51560020-51560170	HCT-116	colon:	n/a	n/a
17	CTCF	chr11:51560100-51560250	GM12866	blood:	n/a	n/a
18	CTCF	chr11:51356996-51357098	GM20000	blood:	n/a	n/a
19	CTCF	chr11:51560100-51560250	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr11:51417744-51417793	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:51480084-51480138	GM10248	blood:	n/a	n/a
22	CTCF	chr11:51560060-51560210	GM12869	blood:	n/a	n/a
23	CTCF	chr11:51418602-51418695	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr11:51405020-51405170	HEK293	kidney:	n/a	n/a
25	CTCF	chr11:51560060-51560210	HepG2	liver:	n/a	n/a
26	CTCF	chr11:51560122-51560198	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:51531145-51531215	Lung_OC	lung:	n/a	n/a
28	CTCF	chr11:51560040-51560190	K562	blood:	n/a	n/a
29	CTCF	chr11:51459728-51459754	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr11:51477856-51477879	GM20000	blood:	n/a	n/a
31	CTCF	chr11:51550384-51550444	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr11:51560080-51560230	HCT-116	colon:	n/a	n/a
33	CTCF	chr11:51560060-51560210	GM12874	blood:	n/a	n/a
34	CTCF	chr11:51560048-51560251	Gliobla	brain:	n/a	n/a
35	CTCF	chr11:51559980-51560130	RPTEC	kidney:	n/a	n/a
36	CTCF	chr11:51560040-51560190	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr11:51560060-51560210	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr11:51492377-51492425	GM20000	blood:	n/a	n/a
39	CTCF	chr11:51487859-51487951	GM20000	blood:	n/a	n/a
40	CTCF	chr11:51477641-51477694	Medullo	brain:	n/a	n/a
41	CTCF	chr11:51415163-51415223	LNCaP	prostate:	n/a	n/a
42	CTCF	chr11:51491803-51491902	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:51560080-51560230	RPTEC	kidney:	n/a	n/a
44	CTCF	chr11:51535409-51535468	GM20000	blood:	n/a	n/a
45	CTCF	chr11:51560060-51560210	NHEK	skin:	n/a	n/a
46	CTCF	chr11:51560040-51560190	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr11:51560020-51560170	HepG2	liver:	n/a	n/a
48	CTCF	chr11:51477102-51477177	Lung_OC	lung:	n/a	n/a
49	CTCF	chr11:51470921-51471000	Lung_OC	lung:	n/a	n/a
50	CTCF	chr11:51467472-51467564	GM10248	blood:	n/a	n/a

(count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:51411541-51411591	NHBE	bronchial:	n/a
2	chr11:51413644-51413694	HMEC	breast:	n/a
3	chr11:51515596-51515646	IMR90	lung:	fetal
4	chr11:51411541-51411591	NHBE	bronchial:	n/a
5	chr11:51413644-51413694	HMEC	breast:	n/a
6	chr11:51515596-51515646	IMR90	lung:	fetal
7	chr11:51515083-51515133	AG10803	skin:	n/a
8	chr11:51515083-51515133	MCF10A-Er-Src	breast:	n/a
9	chr11:51515083-51515133	AoSMC	blood vessel:	n/a
10	chr11:51411541-51411591	AG10803	skin:	n/a
11	chr11:51413644-51413694	SK-N-SH_RA	brain:	n/a
12	chr11:51411541-51411591	GM19239	blood:	n/a
13	chr11:51413644-51413694	NHDF-neo	bronchial:	n/a
14	chr11:51413644-51413694	NT2-D1	testis:	n/a
15	chr11:51515596-51515646	BJ	skin:	n/a
16	chr11:51411541-51411591	H1-hESC	embryonic stem cell:	embryo
17	chr11:51515083-51515133	A549	lung:	n/a
18	chr11:51515083-51515133	T-47D	breast:	n/a
19	chr11:51515083-51515133	CMK	blood:	n/a
20	chr11:51515596-51515646	AG09309	skin:	n/a
21	chr11:51413644-51413694	HCPEpiC	choroid plexus:	n/a
22	chr11:51413644-51413694	U87	brain:	n/a
23	chr11:51515083-51515133	NHBE	bronchial:	n/a
24	chr11:51515083-51515133	HIPEpiC	eye:	n/a
25	chr11:51413644-51413694	CMK	blood:	n/a
26	chr11:51515596-51515646	HEK293	kidney:	embryo
27	chr11:51515596-51515646	T-47D	breast:	n/a
28	chr11:51515596-51515646	HMEC	breast:	n/a
29	chr11:51411541-51411591	HCM	heart:	n/a
30	chr11:51515083-51515133	U87	brain:	n/a
31	chr11:51411541-51411591	HMEC	breast:	n/a
32	chr11:51413644-51413694	HCT-116	colon:	n/a
33	chr11:51411541-51411591	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:51515596-51515646	NH-A	brain:	n/a
35	chr11:51515596-51515646	RPTEC	kidney:	n/a
36	chr11:51413644-51413694	ECC-1	luminal epithelium:	n/a
37	chr11:51413644-51413694	HepG2	liver:	n/a
38	chr11:51515596-51515646	PANC-1	pancreas:	n/a
39	chr11:51411541-51411591	HAEpiC	amniotic membrane:	n/a
40	chr11:51515083-51515133	HCPEpiC	choroid plexus:	n/a
41	chr11:51411541-51411591	HL-60	blood:	n/a
42	chr11:51515596-51515646	Hepatocyte	liver:	n/a
43	chr11:51515083-51515133	ECC-1	luminal epithelium:	n/a
44	chr11:51413644-51413694	A549	lung:	n/a
45	chr11:51515596-51515646	A549	lung:	n/a
46	chr11:51411541-51411591	AoSMC	blood vessel:	n/a
47	chr11:51413644-51413694	GM06990	blood:	n/a
48	chr11:51515596-51515646	SK-N-MC	brain:	n/a
49	chr11:51413644-51413694	HRCEpiC	kidney:	n/a
50	chr11:51515083-51515133	HCT-116	colon:	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
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
OR4R2P	CpG island
OR4A5	CpG island
OR4A6P	CpG island
OR4A2P	CpG island
OR4A4P	CpG island
OR4C46	CpG island

Extended variants
information (count: 2505 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2505 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138613924	chr11:51337127-51337128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs368213067	chr11:51337142-51337143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs544849805	chr11:51337144-51337145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs573809054	chr11:51337146-51337147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs560006286	chr11:51337160-51337161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572019040	chr11:51337167-51337168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542609992	chr11:51337178-51337179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs185760859	chr11:51337188-51337189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs4382885	chr11:51337194-51337195	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs199788568	chr11:51337196-51337197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531679577	chr11:51337202-51337203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs146229727	chr11:51337208-51337209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs137941418	chr11:51337261-51337262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs190136982	chr11:51337270-51337271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs548016522	chr11:51337288-51337289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142421704	chr11:51337292-51337293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143884348	chr11:51337309-51337310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549899688	chr11:51337320-51337321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368184777	chr11:51337340-51337341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs548666252	chr11:51337352-51337353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs11533395	chr11:51337360-51337361	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11522774	chr11:51337361-51337362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148607347	chr11:51337368-51337369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373912954	chr11:51337369-51337370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548849633	chr11:51337379-51337380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571050244	chr11:51337380-51337381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs75106706	chr11:51337385-51337386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77901623	chr11:51337386-51337387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572219889	chr11:51337390-51337391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs367974819	chr11:51337413-51337414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542926068	chr11:51337416-51337417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs4296024	chr11:51337424-51337425	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576365658	chr11:51337425-51337426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543887815	chr11:51337426-51337427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565334726	chr11:51337454-51337455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs150691972	chr11:51337480-51337481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371248897	chr11:51337482-51337483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs374739777	chr11:51337520-51337521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560012005	chr11:51337531-51337532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530260596	chr11:51337549-51337550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs368956749	chr11:51337562-51337563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs1603762	chr11:51337584-51337585	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539572956	chr11:51337591-51337592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140972686	chr11:51337592-51337593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs1846279	chr11:51337593-51337594	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372933049	chr11:51337596-51337597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs567533403	chr11:51337607-51337608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs186906238	chr11:51337624-51337625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192104350	chr11:51337625-51337626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144829744	chr11:51337634-51337635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51335000-51338400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:51337400-51337800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:51338800-51343200	ZNF genes & repeats	Liver	Liver
4	chr11:51341000-51343800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:51355800-51359800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr11:51361600-51362400	ZNF genes & repeats	Liver	Liver
7	chr11:51364000-51368800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:51364400-51367000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr11:51366600-51367600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr11:51366600-51368400	ZNF genes & repeats	Liver	Liver
11	chr11:51369600-51370800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:51371200-51372000	ZNF genes & repeats	Liver	Liver
13	chr11:51398200-51400000	Enhancers	Dnd41	blood
14	chr11:51424200-51424600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr11:51453800-51458800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:51458800-51459200	Active TSS	Brain Substantia Nigra	brain
17	chr11:51458800-51459200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr11:51459200-51461200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:51475200-51476000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr11:51477200-51477800	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr11:51559400-51562000	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr11:51559600-51561200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr11:51560000-51562200	ZNF genes & repeats	Liver	Liver

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