Variant report

Variant	nsv525454
Chromosome Location	chr11:49156039-49570587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:49276871-49276887	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr11:49169276-49169286	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:49386995-49387243	A549	lung:	n/a	chr11:49387090-49387107
4	CEBPB	chr11:49387001-49387231	IMR90	lung:	n/a	chr11:49387090-49387107
5	CEBPB	chr11:49254642-49254944	HepG2	liver:	n/a	chr11:49254764-49254775
6	CEBPB	chr11:49377197-49377351	K562	blood:	n/a	chr11:49377237-49377248
7	CEBPB	chr11:49410762-49410940	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:49332880-49333223	IMR90	lung:	n/a	n/a
9	CEBPB	chr11:49539385-49539635	HepG2	liver:	n/a	chr11:49539560-49539571
10	CEBPB	chr11:49502468-49502676	A549	lung:	n/a	n/a
11	CEBPB	chr11:49464233-49464511	Hela-S3	cervix:	n/a	chr11:49464339-49464350
12	CEBPB	chr11:49254600-49254929	IMR90	lung:	n/a	chr11:49254764-49254775
13	CEBPB	chr11:49441094-49441294	HepG2	liver:	n/a	chr11:49441253-49441264
14	CEBPB	chr11:49509838-49510050	HepG2	liver:	n/a	chr11:49509962-49509973
15	CEBPB	chr11:49539391-49539648	IMR90	lung:	n/a	chr11:49539560-49539571
16	CEBPB	chr11:49176304-49176533	A549	lung:	n/a	chr11:49176450-49176463 chr11:49176420-49176429 chr11:49176418-49176429 chr11:49176450-49176461 chr11:49176420-49176431
17	CEBPB	chr11:49230862-49231062	A549	lung:	n/a	chr11:49230953-49230970
18	CEBPB	chr11:49490254-49490445	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr11:49490202-49490505	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr11:49332869-49333147	HepG2	liver:	n/a	n/a
21	CEBPB	chr11:49176297-49176560	IMR90	lung:	n/a	chr11:49176450-49176463 chr11:49176420-49176429 chr11:49176418-49176429 chr11:49176450-49176461 chr11:49176420-49176431
22	CEBPB	chr11:49254574-49254946	Hela-S3	cervix:	n/a	chr11:49254764-49254775
23	CEBPB	chr11:49490231-49490541	K562	blood:	n/a	n/a
24	CEBPB	chr11:49254638-49254944	A549	lung:	n/a	chr11:49254764-49254775
25	CEBPB	chr11:49464313-49464513	HepG2	liver:	n/a	chr11:49464339-49464350
26	CEBPB	chr11:49386995-49387262	Hela-S3	cervix:	n/a	chr11:49387090-49387107
27	CEBPB	chr11:49176276-49176584	HepG2	liver:	n/a	chr11:49176450-49176463 chr11:49176420-49176429 chr11:49176418-49176429 chr11:49176450-49176461 chr11:49176420-49176431
28	CEBPB	chr11:49490218-49490477	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:49230935-49231032	HepG2	liver:	n/a	chr11:49230953-49230970
30	CEBPB	chr11:49490187-49490529	IMR90	lung:	n/a	n/a
31	CTCF	chr11:49547960-49548110	HepG2	liver:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
32	CTCF	chr11:49393740-49393890	GM12872	blood:	n/a	n/a
33	CTCF	chr11:49547940-49548090	SK-N-SH_RA	brain:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
34	CTCF	chr11:49547940-49548090	GM12864	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
35	CTCF	chr11:49294731-49294782	ProgFib	skin:	n/a	n/a
36	CTCF	chr11:49547857-49548142	IMR90	lung:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
37	CTCF	chr11:49430923-49431000	GM20000	blood:	n/a	n/a
38	CTCF	chr11:49547845-49548169	ProgFib	skin:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
39	CTCF	chr11:49253403-49253523	Medullo	brain:	n/a	n/a
40	CTCF	chr11:49520760-49520910	HEK293	kidney:	n/a	n/a
41	CTCF	chr11:49548000-49548150	HCM	heart:	n/a	n/a
42	CTCF	chr11:49547900-49548050	AoAF	blood vessel:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
43	CTCF	chr11:49191240-49191390	Hela-S3	cervix:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
44	CTCF	chr11:49242786-49242936	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:49252235-49252315	A549	lung:	n/a	n/a
46	CTCF	chr11:49520802-49520907	HepG2	liver:	n/a	n/a
47	CTCF	chr11:49541832-49541891	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:49203554-49203596	GM20000	blood:	n/a	n/a
49	CTCF	chr11:49229682-49229957	MCF-7	breast:	n/a	n/a
50	CTCF	chr11:49547880-49548030	GM12870	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49230168-49230218	U87	brain:	n/a
2	chr11:49453027-49453077	NH-A	brain:	n/a
3	chr11:49230168-49230218	U87	brain:	n/a
4	chr11:49453027-49453077	NH-A	brain:	n/a
5	chr11:49230548-49230598	NHDF-neo	bronchial:	n/a
6	chr11:49455164-49455214	GM19239	blood:	n/a
7	chr11:49456196-49456246	GM06990	blood:	n/a
8	chr11:49229833-49229883	Jurkat	blood:	n/a
9	chr11:49230548-49230598	AG09319	gingival:	n/a
10	chr11:49229833-49229883	AG04449	skin:	fetal
11	chr11:49455214-49455264	HepG2	liver:	n/a
12	chr11:49455164-49455214	IMR90	lung:	fetal
13	chr11:49229833-49229883	HL-60	blood:	n/a
14	chr11:49456067-49456117	HEK293	kidney:	embryo
15	chr11:49455936-49455986	HIPEpiC	eye:	n/a
16	chr11:49455164-49455214	Jurkat	blood:	n/a
17	chr11:49230168-49230218	SKMC	muscle:	n/a
18	chr11:49230168-49230218	ovcar-3	ovarian:	n/a
19	chr11:49229833-49229883	HepG2	liver:	n/a
20	chr11:49455214-49455264	AG09309	skin:	n/a
21	chr11:49456067-49456117	PrEC	prostate:	n/a
22	chr11:49455851-49455901	Hela-S3	cervix:	n/a
23	chr11:49229833-49229883	H1-hESC	embryonic stem cell:	embryo
24	chr11:49229833-49229883	SAEC	small airway:	n/a
25	chr11:49456196-49456246	MCF10A-Er-Src	breast:	n/a
26	chr11:49226370-49226420	HRPEpiC	eye:	n/a
27	chr11:49230548-49230598	AG09309	skin:	n/a
28	chr11:49455164-49455214	NT2-D1	testis:	n/a
29	chr11:49455166-49455216	BJ	skin:	n/a
30	chr11:49230168-49230218	K562	blood:	n/a
31	chr11:49230036-49230086	NH-A	brain:	n/a
32	chr11:49456196-49456246	MCF-7	breast:	n/a
33	chr11:49456196-49456246	BE2_C	brain:	n/a
34	chr11:49456196-49456246	NHDF-neo	bronchial:	n/a
35	chr11:49230036-49230086	PrEC	prostate:	n/a
36	chr11:49456196-49456246	SK-N-SH	brain:	n/a
37	chr11:49455214-49455264	Hela-S3	cervix:	n/a
38	chr11:49458195-49458245	SAEC	small airway:	n/a
39	chr11:49230168-49230218	HCPEpiC	choroid plexus:	n/a
40	chr11:49458195-49458245	PANC-1	pancreas:	n/a
41	chr11:49456067-49456117	HRPEpiC	eye:	n/a
42	chr11:49215449-49215499	SAEC	small airway:	n/a
43	chr11:49456067-49456117	A549	lung:	n/a
44	chr11:49226370-49226420	K562	blood:	n/a
45	chr11:49230168-49230218	PrEC	prostate:	n/a
46	chr11:49455166-49455216	ECC-1	luminal epithelium:	n/a
47	chr11:49455851-49455901	A549	lung:	n/a
48	chr11:49455166-49455216	ProgFib	skin:	n/a
49	chr11:49455936-49455986	BJ	skin:	n/a
50	chr11:49230036-49230086	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:49251863..49252437-chr11:49547367..49548407,3	MCF-7	breast:
2	chr11:49547545..49548055-chr11:50016701..50017446,2	MCF-7	breast:
3	chr11:48194206..48195039-chr11:49190936..49191807,2	MCF-7	breast:
4	chr11:49250422..49251012-chr11:49547571..49548253,2	MCF-7	breast:
5	chr11:48478071..48478587-chr11:49191267..49191777,2	MCF-7	breast:
6	chr11:49251863..49252437-chr11:49547367..49548407,3	MCF-7	breast:
7	chr11:49250422..49251012-chr11:49547571..49548253,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-8	chr11:49427742-49428266	NONHSAT021315
2	lnc-FOLH1-1	chr11:49155205-49156352	NONHSAT021310
3	lnc-AC084851.1-9	chr11:49454982-49456076	NONHSAT021316
4	lnc-AC084851.1-9	chr11:49453962-49453989	NONHSAT021316

Variant related genes	Relation type
ENSG00000255532	TF binding region
CBX3P8	TF binding region
TYRL	TF binding region
ENSG00000254567	TF binding region
FOLH1	TF binding region
ENSG00000226268	TF binding region
ENSG00000255532	CpG island
CBX3P8	CpG island
TYRL	CpG island
ENSG00000254567	CpG island
FOLH1	CpG island
ENSG00000226268	CpG island

Extended variants
information (count: 6915 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:6915 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11040261	chr11:49156039-49156040	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375204296	chr11:49156060-49156061	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs376636490	chr11:49156063-49156064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs546524345	chr11:49156065-49156066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs199883989	chr11:49156066-49156067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs57078846	chr11:49156070-49156071	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs202079961	chr11:49156071-49156072	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs200125971	chr11:49156074-49156075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs369582685	chr11:49156077-49156078	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs530975344	chr11:49156082-49156083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs71454045	chr11:49156083-49156084	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs12099091	chr11:49156090-49156091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142416353	chr11:49156234-49156235	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs34519393	chr11:49156267-49156268	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187419149	chr11:49156284-49156285	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs190589730	chr11:49156293-49156294	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs1330031	chr11:49156299-49156300	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs1330032	chr11:49156308-49156309	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs1330033	chr11:49156321-49156322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs537797620	chr11:49156336-49156337	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs146496851	chr11:49156348-49156349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs149920070	chr11:49156809-49156810	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs146173069	chr11:49156818-49156819	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138807793	chr11:49156837-49156838	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576200805	chr11:49156874-49156875	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376974485	chr11:49156881-49156882	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs117547382	chr11:49156882-49156883	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs75384178	chr11:49156900-49156901	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369384012	chr11:49156926-49156927	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs538496563	chr11:49156938-49156939	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs61886467	chr11:49156958-49156959	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187906553	chr11:49164236-49164237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9715652	chr11:49164253-49164254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77148530	chr11:49164277-49164278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79548461	chr11:49164280-49164281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79160515	chr11:49164281-49164282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75778793	chr11:49164283-49164284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75248239	chr11:49164284-49164285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189734735	chr11:49164292-49164293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74649031	chr11:49164297-49164298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570450211	chr11:49164299-49164300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556228629	chr11:49164300-49164301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71450952	chr11:49164309-49164310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77845057	chr11:49164338-49164339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4458694	chr11:49164345-49164346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76534230	chr11:49164349-49164350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575909199	chr11:49164352-49164353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79347271	chr11:49164368-49164369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79034597	chr11:49164380-49164381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556850240	chr11:49164381-49164382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	17426248	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49156800-49157000	Bivalent/Poised TSS	Left Ventricle	heart
2	chr11:49164200-49169200	Weak transcription	Fetal Intestine Large	intestine
3	chr11:49164600-49184200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:49165600-49165800	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr11:49165600-49167800	Weak transcription	Liver	Liver
6	chr11:49165800-49166000	Enhancers	Brain Hippocampus Middle	brain
7	chr11:49165800-49168800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:49166000-49184200	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:49167800-49168000	Strong transcription	Liver	Liver
10	chr11:49167800-49172600	Weak transcription	Fetal Lung	lung
11	chr11:49168000-49168200	Weak transcription	Liver	Liver
12	chr11:49168200-49168400	Strong transcription	Liver	Liver
13	chr11:49168400-49169200	Weak transcription	Liver	Liver
14	chr11:49168800-49169600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr11:49169200-49169600	Strong transcription	Liver	Liver
16	chr11:49169200-49169800	Strong transcription	Fetal Intestine Large	intestine
17	chr11:49169600-49174400	Weak transcription	Liver	Liver
18	chr11:49169600-49175800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:49169800-49170200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:49170200-49171000	Strong transcription	Fetal Intestine Large	intestine
21	chr11:49171000-49172600	Weak transcription	Fetal Intestine Large	intestine
22	chr11:49171400-49197600	Weak transcription	Brain Substantia Nigra	brain
23	chr11:49171600-49190800	Weak transcription	Small Intestine	intestine
24	chr11:49172600-49173200	Strong transcription	Fetal Lung	lung
25	chr11:49172600-49173400	Strong transcription	Fetal Intestine Large	intestine
26	chr11:49173200-49184000	Weak transcription	Fetal Lung	lung
27	chr11:49173400-49177200	Weak transcription	Fetal Intestine Large	intestine
28	chr11:49174400-49176400	Strong transcription	Liver	Liver
29	chr11:49175800-49176600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:49176200-49186800	Weak transcription	Ovary	ovary
31	chr11:49176400-49183200	Weak transcription	Liver	Liver
32	chr11:49176600-49183800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:49177200-49177800	Strong transcription	Fetal Intestine Large	intestine
34	chr11:49177800-49183400	Weak transcription	Fetal Intestine Large	intestine
35	chr11:49182400-49184400	Weak transcription	Fetal Stomach	stomach
36	chr11:49182800-49185200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:49183200-49186200	Strong transcription	Liver	Liver
38	chr11:49183400-49190000	Strong transcription	Fetal Intestine Large	intestine
39	chr11:49183800-49185600	Weak transcription	Brain Anterior Caudate	brain
40	chr11:49183800-49186800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:49184000-49185600	Strong transcription	Fetal Lung	lung
42	chr11:49184200-49184600	Strong transcription	Fetal Intestine Small	intestine
43	chr11:49184200-49185600	Strong transcription	Brain Hippocampus Middle	brain
44	chr11:49184200-49193400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:49184400-49185600	Strong transcription	Fetal Stomach	stomach
46	chr11:49184400-49186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:49184600-49185600	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr11:49184800-49208400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:49185200-49185600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr11:49185200-49185600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links