Variant report

Variant	nsv1039619
Chromosome Location	chr11:51479725-51564415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr11:51560519-51560757	K562	blood:	n/a	n/a
2	CEBPB	chr11:51492183-51492261	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:51510982-51511112	HepG2	liver:	n/a	chr11:51511049-51511060
4	CTCF	chr11:51560100-51560250	GM12866	blood:	n/a	n/a
5	CTCF	chr11:51559960-51560110	A549	lung:	n/a	n/a
6	CTCF	chr11:51560100-51560250	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr11:51560000-51560150	GM12864	blood:	n/a	n/a
8	CTCF	chr11:51560080-51560230	BE2_C	brain:	n/a	n/a
9	CTCF	chr11:51560040-51560190	HMEC	breast:	n/a	n/a
10	CTCF	chr11:51559960-51560110	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr11:51560122-51560198	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:51558451-51558482	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr11:51560020-51560170	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:51535409-51535468	GM20000	blood:	n/a	n/a
15	CTCF	chr11:51560060-51560210	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr11:51559600-51559750	GM12878	blood:	n/a	n/a
17	CTCF	chr11:51560129-51560185	GM12892	blood:	n/a	n/a
18	CTCF	chr11:51560060-51560210	HMF	breast:	n/a	n/a
19	CTCF	chr11:51560105-51560206	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:51560080-51560230	NB4	blood:	n/a	n/a
21	CTCF	chr11:51560060-51560210	GM12869	blood:	n/a	n/a
22	CTCF	chr11:51560040-51560190	K562	blood:	n/a	n/a
23	CTCF	chr11:51487859-51487951	GM20000	blood:	n/a	n/a
24	CTCF	chr11:51560113-51560205	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:51560040-51560190	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr11:51560040-51560190	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr11:51560020-51560170	HepG2	liver:	n/a	n/a
28	CTCF	chr11:51560080-51560230	RPTEC	kidney:	n/a	n/a
29	CTCF	chr11:51560060-51560210	HEK293	kidney:	n/a	n/a
30	CTCF	chr11:51560126-51560152	GM12878	blood:	n/a	n/a
31	CTCF	chr11:51560060-51560210	BE2_C	brain:	n/a	n/a
32	CTCF	chr11:51560092-51560204	HepG2	liver:	n/a	n/a
33	CTCF	chr11:51559980-51560130	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr11:51560040-51560190	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr11:51560020-51560170	AG09309	skin:	n/a	n/a
36	CTCF	chr11:51560060-51560210	GM12875	blood:	n/a	n/a
37	CTCF	chr11:51491793-51491867	MCF-7	breast:	n/a	n/a
38	CTCF	chr11:51560060-51560210	HepG2	liver:	n/a	n/a
39	CTCF	chr11:51560081-51560188	A549	lung:	n/a	n/a
40	CTCF	chr11:51560100-51560250	HAc	cerebellar:	n/a	n/a
41	CTCF	chr11:51560020-51560170	GM12873	blood:	n/a	n/a
42	CTCF	chr11:51560087-51560089	LNCaP	prostate:	n/a	n/a
43	CTCF	chr11:51560154-51560185	Medullo	brain:	n/a	n/a
44	CTCF	chr11:51560080-51560230	HCT-116	colon:	n/a	n/a
45	CTCF	chr11:51560060-51560210	NHEK	skin:	n/a	n/a
46	CTCF	chr11:51560100-51560250	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr11:51485343-51485395	GM10248	blood:	n/a	n/a
48	CTCF	chr11:51560054-51560247	K562	blood:	n/a	n/a
49	CTCF	chr11:51492377-51492425	GM20000	blood:	n/a	n/a
50	CTCF	chr11:51491803-51491902	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	chr11:51515596-51515646	HIPEpiC	eye:	n/a
2	chr11:51515596-51515646	AoSMC	blood vessel:	n/a
3	chr11:51515596-51515646	MCF10A-Er-Src	breast:	n/a
4	chr11:51515596-51515646	HUVEC	blood vessel:	n/a
5	chr11:51515596-51515646	AG04449	skin:	fetal
6	chr11:51515596-51515646	PrEC	prostate:	n/a
7	chr11:51515083-51515133	HRE	kidney:	n/a
8	chr11:51515596-51515646	GM06990	blood:	n/a
9	chr11:51515083-51515133	NB4	blood:	n/a
10	chr11:51515083-51515133	HMEC	breast:	n/a
11	chr11:51515596-51515646	NHBE	bronchial:	n/a
12	chr11:51515083-51515133	SK-N-SH	brain:	n/a
13	chr11:51515083-51515133	Jurkat	blood:	n/a
14	chr11:51515596-51515646	HCT-116	colon:	n/a
15	chr11:51515083-51515133	BJ	skin:	n/a
16	chr11:51515083-51515133	HCM	heart:	n/a
17	chr11:51515083-51515133	SAEC	small airway:	n/a
18	chr11:51515596-51515646	GM19239	blood:	n/a
19	chr11:51515596-51515646	HepG2	liver:	n/a
20	chr11:51515083-51515133	K562	blood:	n/a
21	chr11:51515083-51515133	AG09309	skin:	n/a
22	chr11:51515596-51515646	ECC-1	luminal epithelium:	n/a
23	chr11:51515596-51515646	A549	lung:	n/a
24	chr11:51515083-51515133	Caco-2	colon:	n/a
25	chr11:51515596-51515646	HRE	kidney:	n/a
26	chr11:51515596-51515646	RPTEC	kidney:	n/a
27	chr11:51515596-51515646	HCF	heart:	n/a
28	chr11:51515596-51515646	SK-N-SH_RA	brain:	n/a
29	chr11:51515083-51515133	AG09319	gingival:	n/a
30	chr11:51515596-51515646	HMEC	breast:	n/a
31	chr11:51515596-51515646	HL-60	blood:	n/a
32	chr11:51515083-51515133	MCF10A-Er-Src	breast:	n/a
33	chr11:51515596-51515646	ovcar-3	ovarian:	n/a
34	chr11:51515596-51515646	CMK	blood:	n/a
35	chr11:51515083-51515133	AoSMC	blood vessel:	n/a
36	chr11:51515596-51515646	GM12892	blood:	n/a
37	chr11:51515083-51515133	IMR90	lung:	fetal
38	chr11:51515083-51515133	HAEpiC	amniotic membrane:	n/a
39	chr11:51515596-51515646	Caco-2	colon:	n/a
40	chr11:51515083-51515133	PANC-1	pancreas:	n/a
41	chr11:51515083-51515133	AG04450	lung:	fetal
42	chr11:51515596-51515646	SK-N-MC	brain:	n/a
43	chr11:51515083-51515133	NT2-D1	testis:	n/a
44	chr11:51515083-51515133	HEK293	kidney:	embryo
45	chr11:51515596-51515646	H1-hESC	embryonic stem cell:	embryo
46	chr11:51515083-51515133	AG04449	skin:	fetal
47	chr11:51515083-51515133	Hepatocyte	liver:	n/a
48	chr11:51515596-51515646	AG09309	skin:	n/a
49	chr11:51515083-51515133	CMK	blood:	n/a
50	chr11:51515596-51515646	HPAEpiC	pulmonary alveolar:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C46-2	chr11:51560165-51560173	NONHSAT021350

No data

Variant related genes	Relation type
OR4C50P	TF binding region
OR4C7P	TF binding region
OR4C46	TF binding region
OR4C50P	CpG island
OR4C7P	CpG island
OR4C46	CpG island

Extended variants
information (count: 281 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:281 , 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	rs541101697	chr11:51480085-51480086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs145989888	chr11:51480106-51480107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565920010	chr11:51480127-51480128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs61892962	chr11:51480136-51480137	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146510616	chr11:51511002-51511003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557831290	chr11:51511019-51511020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572961016	chr11:51511025-51511026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540318471	chr11:51511029-51511030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562189843	chr11:51511033-51511034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs184900900	chr11:51511052-51511053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189311925	chr11:51511093-51511094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs144951687	chr11:51511476-51511477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs545709436	chr11:51511587-51511588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs564119173	chr11:51511589-51511590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs528070606	chr11:51511621-51511622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs546413574	chr11:51511635-51511636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs561793801	chr11:51511662-51511663	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs188830851	chr11:51513365-51513366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs538214095	chr11:51513377-51513378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113647397	chr11:51513378-51513379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs565593250	chr11:51513393-51513394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547925013	chr11:51513397-51513398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536457409	chr11:51513403-51513404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181739120	chr11:51513417-51513418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs79314601	chr11:51513434-51513435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs142458187	chr11:51513446-51513447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs558854994	chr11:51513485-51513486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs565081659	chr11:51513487-51513488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs368318266	chr11:51513488-51513489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs541017794	chr11:51513526-51513527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559804874	chr11:51513528-51513529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs530178111	chr11:51513530-51513531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542308260	chr11:51513555-51513556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533161585	chr11:51515084-51515085	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs144727435	chr11:51515100-51515101	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs61890417	chr11:51515113-51515114	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182789309	chr11:51531181-51531182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530125060	chr11:51531191-51531192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548382816	chr11:51531212-51531213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs374816486	chr11:51531924-51531925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs536707145	chr11:51531925-51531926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558720586	chr11:51531936-51531937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs570278078	chr11:51531939-51531940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534494414	chr11:51531942-51531943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552878138	chr11:51531965-51531966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs574182007	chr11:51531976-51531977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542251206	chr11:51531979-51531980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs184463923	chr11:51531994-51531995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs376406811	chr11:51532023-51532024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545955949	chr11:51532027-51532028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	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
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51559400-51562000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr11:51559600-51561200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr11:51560000-51562200	ZNF genes & repeats	Liver	Liver

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