Variant report

Variant	nsv1051988
Chromosome Location	chr11:51518519-51564415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

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	CTCF	chr11:51560090-51560211	LNCaP	prostate:	n/a	n/a
3	CTCF	chr11:51560122-51560198	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:51560080-51560230	NB4	blood:	n/a	n/a
5	CTCF	chr11:51563621-51563660	GM10248	blood:	n/a	n/a
6	CTCF	chr11:51560060-51560210	HepG2	liver:	n/a	n/a
7	CTCF	chr11:51560126-51560152	GM12878	blood:	n/a	n/a
8	CTCF	chr11:51531145-51531215	Lung_OC	lung:	n/a	n/a
9	CTCF	chr11:51560040-51560190	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr11:51560087-51560089	LNCaP	prostate:	n/a	n/a
11	CTCF	chr11:51560060-51560210	GM12872	blood:	n/a	n/a
12	CTCF	chr11:51560060-51560210	HMF	breast:	n/a	n/a
13	CTCF	chr11:51560080-51560230	RPTEC	kidney:	n/a	n/a
14	CTCF	chr11:51558451-51558482	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr11:51560100-51560250	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr11:51560080-51560230	HCT-116	colon:	n/a	n/a
17	CTCF	chr11:51560113-51560205	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:51560100-51560250	GM12866	blood:	n/a	n/a
19	CTCF	chr11:51560081-51560188	A549	lung:	n/a	n/a
20	CTCF	chr11:51560020-51560170	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr11:51560080-51560230	BE2_C	brain:	n/a	n/a
22	CTCF	chr11:51560154-51560185	Medullo	brain:	n/a	n/a
23	CTCF	chr11:51560020-51560170	GM06990	blood:	n/a	n/a
24	CTCF	chr11:51560092-51560204	HepG2	liver:	n/a	n/a
25	CTCF	chr11:51560020-51560170	HCT-116	colon:	n/a	n/a
26	CTCF	chr11:51560060-51560210	GM12874	blood:	n/a	n/a
27	CTCF	chr11:51560020-51560170	HepG2	liver:	n/a	n/a
28	CTCF	chr11:51560048-51560251	Gliobla	brain:	n/a	n/a
29	CTCF	chr11:51560060-51560210	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr11:51560060-51560210	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr11:51559960-51560110	HFF-Myc	foreskin:	n/a	n/a
32	CTCF	chr11:51560100-51560250	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr11:51560040-51560190	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr11:51560040-51560190	HMEC	breast:	n/a	n/a
35	CTCF	chr11:51560060-51560210	GM12875	blood:	n/a	n/a
36	CTCF	chr11:51559980-51560130	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr11:51559960-51560110	A549	lung:	n/a	n/a
38	CTCF	chr11:51550384-51550444	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr11:51560060-51560210	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr11:51560020-51560170	AG04449	skin:	n/a	n/a
41	CTCF	chr11:51560120-51560270	GM12878	blood:	n/a	n/a
42	CTCF	chr11:51560060-51560210	GM12869	blood:	n/a	n/a
43	CTCF	chr11:51560077-51560180	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:51535409-51535468	GM20000	blood:	n/a	n/a
45	CTCF	chr11:51560060-51560210	HEK293	kidney:	n/a	n/a
46	CTCF	chr11:51560105-51560206	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr11:51560020-51560170	AG09309	skin:	n/a	n/a
48	CTCF	chr11:51560000-51560150	GM12864	blood:	n/a	n/a
49	CTCF	chr11:51542827-51542888	GM20000	blood:	n/a	n/a
50	CTCF	chr11:51559980-51560130	RPTEC	kidney:	n/a	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

Extended variants
information (count: 245 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182789309	chr11:51531181-51531182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs530125060	chr11:51531191-51531192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs548382816	chr11:51531212-51531213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs374816486	chr11:51531924-51531925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs536707145	chr11:51531925-51531926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558720586	chr11:51531936-51531937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570278078	chr11:51531939-51531940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534494414	chr11:51531942-51531943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs552878138	chr11:51531965-51531966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574182007	chr11:51531976-51531977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542251206	chr11:51531979-51531980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs184463923	chr11:51531994-51531995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376406811	chr11:51532023-51532024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs545955949	chr11:51532027-51532028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs112987563	chr11:51532041-51532042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs577546564	chr11:51559405-51559406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534771373	chr11:51559438-51559439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528574373	chr11:51559465-51559466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs546655995	chr11:51559468-51559469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs543335831	chr11:51559478-51559479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568340656	chr11:51559483-51559484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs150302272	chr11:51559491-51559492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376003839	chr11:51559496-51559497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184307778	chr11:51559507-51559508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558089527	chr11:51559512-51559513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562705645	chr11:51559548-51559549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs61891350	chr11:51559550-51559551	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558593329	chr11:51559590-51559591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570426684	chr11:51559603-51559604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537349458	chr11:51559611-51559612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs140912648	chr11:51559640-51559641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553130586	chr11:51559647-51559648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541912030	chr11:51559665-51559666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574568102	chr11:51559668-51559669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs11559724	chr11:51559694-51559695	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556873911	chr11:51559720-51559721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs575498746	chr11:51559732-51559733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs188376537	chr11:51559750-51559751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs181775806	chr11:51559751-51559752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144714707	chr11:51559781-51559782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540212951	chr11:51559793-51559794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs574378742	chr11:51559798-51559799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186473600	chr11:51559811-51559812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs551205002	chr11:51559824-51559825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs55834123	chr11:51559827-51559828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs138664693	chr11:51559842-51559843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs36016813	chr11:51559848-51559849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs207471890	chr11:51559852-51559853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs191204891	chr11:51559856-51559857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141775398	chr11:51559874-51559875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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

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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