Variant report

Variant	nsv1041340
Chromosome Location	chr11:51357233-51564415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:193)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:193 , 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	chr11:51492183-51492261	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:51472743-51472929	A549	lung:	n/a	n/a
6	CEBPB	chr11:51510982-51511112	HepG2	liver:	n/a	chr11:51511049-51511060
7	CEBPB	chr11:51402232-51402435	IMR90	lung:	n/a	n/a
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	chr11:51560060-51560210	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr11:51405020-51405170	HEK293	kidney:	n/a	n/a
13	CTCF	chr11:51467472-51467564	GM10248	blood:	n/a	n/a
14	CTCF	chr11:51560077-51560180	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:51560060-51560210	GM12872	blood:	n/a	n/a
16	CTCF	chr11:51559600-51559750	GM12878	blood:	n/a	n/a
17	CTCF	chr11:51560040-51560190	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr11:51454243-51454342	GM20000	blood:	n/a	n/a
19	CTCF	chr11:51560020-51560170	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:51560090-51560211	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:51560048-51560251	Gliobla	brain:	n/a	n/a
22	CTCF	chr11:51477856-51477879	GM20000	blood:	n/a	n/a
23	CTCF	chr11:51487859-51487951	GM20000	blood:	n/a	n/a
24	CTCF	chr11:51560020-51560170	GM06990	blood:	n/a	n/a
25	CTCF	chr11:51560060-51560210	HEK293	kidney:	n/a	n/a
26	CTCF	chr11:51560020-51560170	AG09309	skin:	n/a	n/a
27	CTCF	chr11:51444498-51444564	GM13976	blood:	n/a	n/a
28	CTCF	chr11:51560040-51560190	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr11:51560060-51560210	HepG2	liver:	n/a	n/a
30	CTCF	chr11:51473887-51473979	LNCaP	prostate:	n/a	n/a
31	CTCF	chr11:51560020-51560170	HepG2	liver:	n/a	n/a
32	CTCF	chr11:51560080-51560230	RPTEC	kidney:	n/a	n/a
33	CTCF	chr11:51527504-51527554	GM20000	blood:	n/a	n/a
34	CTCF	chr11:51425405-51425449	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr11:51560129-51560185	GM12892	blood:	n/a	n/a
36	CTCF	chr11:51412215-51412230	GM13976	blood:	n/a	n/a
37	CTCF	chr11:51560040-51560190	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr11:51560080-51560230	BE2_C	brain:	n/a	n/a
39	CTCF	chr11:51491766-51491900	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:51560120-51560270	GM12878	blood:	n/a	n/a
41	CTCF	chr11:51542827-51542888	GM20000	blood:	n/a	n/a
42	CTCF	chr11:51560020-51560170	GM12873	blood:	n/a	n/a
43	CTCF	chr11:51470921-51471000	Lung_OC	lung:	n/a	n/a
44	CTCF	chr11:51451910-51451957	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr11:51560060-51560210	GM12869	blood:	n/a	n/a
46	CTCF	chr11:51560060-51560210	GM12875	blood:	n/a	n/a
47	CTCF	chr11:51492377-51492425	GM20000	blood:	n/a	n/a
48	CTCF	chr11:51560040-51560190	HMEC	breast:	n/a	n/a
49	CTCF	chr11:51560100-51560250	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr11:51560105-51560206	Hela-S3	cervix:	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	NB4	blood:	n/a
2	chr11:51515596-51515646	PANC-1	pancreas:	n/a
3	chr11:51515596-51515646	SK-N-SH	brain:	n/a
4	chr11:51413644-51413694	ECC-1	luminal epithelium:	n/a
5	chr11:51413644-51413694	AG04449	skin:	fetal
6	chr11:51515596-51515646	A549	lung:	n/a
7	chr11:51413644-51413694	ovcar-3	ovarian:	n/a
8	chr11:51411541-51411591	HepG2	liver:	n/a
9	chr11:51515596-51515646	Hela-S3	cervix:	n/a
10	chr11:51515596-51515646	T-47D	breast:	n/a
11	chr11:51515083-51515133	PrEC	prostate:	n/a
12	chr11:51515083-51515133	Hepatocyte	liver:	n/a
13	chr11:51411541-51411591	SAEC	small airway:	n/a
14	chr11:51413644-51413694	PANC-1	pancreas:	n/a
15	chr11:51411541-51411591	AG04449	skin:	fetal
16	chr11:51515596-51515646	NB4	blood:	n/a
17	chr11:51515083-51515133	K562	blood:	n/a
18	chr11:51413644-51413694	AG09319	gingival:	n/a
19	chr11:51413644-51413694	AoSMC	blood vessel:	n/a
20	chr11:51515596-51515646	NT2-D1	testis:	n/a
21	chr11:51515083-51515133	HEK293	kidney:	embryo
22	chr11:51515596-51515646	NHDF-neo	bronchial:	n/a
23	chr11:51515596-51515646	HEK293	kidney:	embryo
24	chr11:51411541-51411591	HIPEpiC	eye:	n/a
25	chr11:51411541-51411591	MCF10A-Er-Src	breast:	n/a
26	chr11:51413644-51413694	AG09309	skin:	n/a
27	chr11:51515083-51515133	NH-A	brain:	n/a
28	chr11:51413644-51413694	Jurkat	blood:	n/a
29	chr11:51413644-51413694	AG04450	lung:	fetal
30	chr11:51411541-51411591	HMEC	breast:	n/a
31	chr11:51411541-51411591	K562	blood:	n/a
32	chr11:51515596-51515646	AG09309	skin:	n/a
33	chr11:51413644-51413694	H1-hESC	embryonic stem cell:	embryo
34	chr11:51413644-51413694	NH-A	brain:	n/a
35	chr11:51413644-51413694	HCF	heart:	n/a
36	chr11:51515596-51515646	Hepatocyte	liver:	n/a
37	chr11:51411541-51411591	AoSMC	blood vessel:	n/a
38	chr11:51413644-51413694	IMR90	lung:	fetal
39	chr11:51515083-51515133	MCF-7	breast:	n/a
40	chr11:51515596-51515646	AG09319	gingival:	n/a
41	chr11:51413644-51413694	GM19239	blood:	n/a
42	chr11:51411541-51411591	HL-60	blood:	n/a
43	chr11:51515083-51515133	HMEC	breast:	n/a
44	chr11:51515083-51515133	BJ	skin:	n/a
45	chr11:51413644-51413694	NHBE	bronchial:	n/a
46	chr11:51515596-51515646	SK-N-SH_RA	brain:	n/a
47	chr11:51413644-51413694	Caco-2	colon:	n/a
48	chr11:51411541-51411591	HRCEpiC	kidney:	n/a
49	chr11:51515596-51515646	Jurkat	blood:	n/a
50	chr11:51515596-51515646	BE2_C	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4A5-2	chr11:51455830-51456700	NONHSAT021348
2	lnc-OR4C46-1	chr11:51461564-51462160	NONHSAT021349
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: 1986 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1986 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541316378	chr11:51357243-51357244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs193145110	chr11:51357256-51357257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs530070118	chr11:51357314-51357315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201000294	chr11:51357315-51357316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs201270415	chr11:51357320-51357321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541879217	chr11:51357324-51357325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185231098	chr11:51357352-51357353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs150624146	chr11:51357411-51357412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113107215	chr11:51357422-51357423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11608009	chr11:51357425-51357426	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527675277	chr11:51357466-51357467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs547229206	chr11:51357482-51357483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181168844	chr11:51357492-51357493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536218457	chr11:51357503-51357504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184238093	chr11:51357606-51357607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569704616	chr11:51357653-51357654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114797714	chr11:51357715-51357716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369237152	chr11:51357718-51357719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs188131243	chr11:51357719-51357720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534527455	chr11:51357738-51357739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546937427	chr11:51357761-51357762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs180893367	chr11:51357788-51357789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs553204473	chr11:51357791-51357792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs186142356	chr11:51357793-51357794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs574622964	chr11:51357794-51357795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs192249232	chr11:51357799-51357800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs563331980	chr11:51357824-51357825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575279344	chr11:51357837-51357838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs545844455	chr11:51357890-51357891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs564248040	chr11:51357892-51357893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs61917115	chr11:51357906-51357907	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546902363	chr11:51357913-51357914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562337882	chr11:51357915-51357916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs182253205	chr11:51357933-51357934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186874874	chr11:51357942-51357943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200756215	chr11:51357962-51357963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369887477	chr11:51357965-51357966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569666441	chr11:51357968-51357969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs537047287	chr11:51357972-51357973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs111875008	chr11:51357997-51357998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552262467	chr11:51358002-51358003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs1827001	chr11:51358011-51358012	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113911951	chr11:51358033-51358034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552876181	chr11:51358093-51358094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574614329	chr11:51358102-51358103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182405414	chr11:51358126-51358127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556839520	chr11:51358129-51358130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187040943	chr11:51358134-51358135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs61917116	chr11:51358140-51358141	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564216973	chr11:51358152-51358153	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:19 , 50 per page) page: 1

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links