Variant report

Variant	nsv1040141
Chromosome Location	chr11:4430146-4455985
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	CEBPB	chr11:4455134-4455441	HepG2	liver:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
2	CEBPB	chr11:4455143-4455440	IMR90	lung:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
3	CEBPB	chr11:4455124-4455430	A549	lung:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
4	CEBPB	chr11:4455223-4455382	K562	blood:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
5	CEBPB	chr11:4439808-4440108	HepG2	liver:	n/a	chr11:4439975-4439986
6	CEBPB	chr11:4435904-4436216	HepG2	liver:	n/a	chr11:4436054-4436063 chr11:4436052-4436063
7	CEBPB	chr11:4439846-4440117	Hela-S3	cervix:	n/a	chr11:4439975-4439986
8	CTCF	chr11:4445245-4445262	GM13977	blood:	n/a	n/a
9	CTCF	chr11:4452885-4452942	Fibrobl	skin:	n/a	n/a
10	EBF1	chr11:4448314-4448524	GM12878	blood:	n/a	chr11:4448395-4448406
11	FOS	chr11:4455221-4455357	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr11:4455156-4455484	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:4455190-4455494	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:4455144-4455486	MCF10A-Er-Src	breast:	n/a	n/a
15	IRF3	chr11:4440407-4440446	GM12878	blood:	n/a	n/a
16	JUN	chr11:4445597-4445782	HepG2	liver:	n/a	chr11:4445692-4445705
17	JUND	chr11:4445532-4445820	HepG2	liver:	n/a	n/a
18	JUND	chr11:4446719-4447010	HepG2	liver:	n/a	n/a
19	MAFF	chr11:4437594-4437899	HepG2	liver:	n/a	n/a
20	MAFF	chr11:4443222-4443528	HepG2	liver:	n/a	chr11:4443367-4443381 chr11:4443361-4443379
21	MAFF	chr11:4437658-4437838	K562	blood:	n/a	n/a
22	MAFF	chr11:4443347-4443389	K562	blood:	n/a	chr11:4443367-4443381 chr11:4443361-4443379
23	MAFK	chr11:4443203-4443528	HepG2	liver:	n/a	chr11:4443363-4443374 chr11:4443366-4443382 chr11:4443364-4443384 chr11:4443363-4443378 chr11:4443367-4443381
24	MAFK	chr11:4437624-4437864	HepG2	liver:	n/a	chr11:4437719-4437730 chr11:4437720-4437731 chr11:4437719-4437735 chr11:4437718-4437732 chr11:4437719-4437730 chr11:4437719-4437734
25	MAFK	chr11:4443324-4443523	K562	blood:	n/a	chr11:4443363-4443374 chr11:4443366-4443382 chr11:4443364-4443384 chr11:4443363-4443378 chr11:4443367-4443381
26	MAFK	chr11:4437596-4437842	IMR90	lung:	n/a	chr11:4437719-4437730 chr11:4437720-4437731 chr11:4437719-4437735 chr11:4437718-4437732 chr11:4437719-4437730 chr11:4437719-4437734
27	MAFK	chr11:4433271-4433428	HepG2	liver:	n/a	chr11:4433336-4433350 chr11:4433354-4433364
28	MAFK	chr11:4443206-4443542	HepG2	liver:	n/a	chr11:4443363-4443374 chr11:4443366-4443382 chr11:4443364-4443384 chr11:4443363-4443378 chr11:4443367-4443381
29	MAFK	chr11:4437579-4437888	HepG2	liver:	n/a	chr11:4437719-4437730 chr11:4437720-4437731 chr11:4437719-4437735 chr11:4437718-4437732 chr11:4437719-4437730 chr11:4437719-4437734
30	MYC	chr11:4439938-4440074	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr11:4439967-4440034	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr11:4455199-4455387	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:4439584-4439674	A549	lung:	n/a	n/a
34	POLR2A	chr11:4450748-4450782	K562	blood:	n/a	n/a
35	POLR2A	chr11:4439104-4439304	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:4452937-4453053	Gliobla	brain:	n/a	n/a
37	POLR2A	chr11:4437709-4437847	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:4452798-4453099	A549	lung:	n/a	n/a
39	POLR2A	chr11:4439802-4439851	Gliobla	brain:	n/a	n/a
40	POLR2A	chr11:4439682-4439706	A549	lung:	n/a	n/a
41	POLR2A	chr11:4450296-4450361	MCF10A-Er-Src	breast:	n/a	n/a
42	SPI1	chr11:4448075-4448496	HL-60	blood:	n/a	n/a
43	STAT3	chr11:4455156-4455356	MCF10A-Er-Src	breast:	n/a	n/a
44	ZNF384	chr11:4441805-4442005	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:4441835..4444233-chr11:4445411..4447480,2	K562	blood:
2	chr11:4441835..4444233-chr11:4445411..4447480,2	K562	blood:
3	chr11:4451655..4453436-chr11:4454768..4456529,2	K562	blood:
4	chr11:4451655..4453436-chr11:4454768..4456529,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR52K2-1	chr11:4431629-4432109	XLOC_009037

Variant related genes	Relation type
OR52P2P	TF binding region
OR51R1P	TF binding region

Extended variants
information (count: 1273 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1273 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147292838	chr11:4430178-4430179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374083896	chr11:4430189-4430190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11032182	chr11:4430190-4430191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185637115	chr11:4430203-4430204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539129149	chr11:4430209-4430210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557952468	chr11:4430228-4430229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371460673	chr11:4430236-4430237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566525523	chr11:4430271-4430272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60777207	chr11:4430283-4430284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145844362	chr11:4430298-4430299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574537861	chr11:4430306-4430307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11032183	chr11:4430318-4430319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374271034	chr11:4430320-4430321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556896750	chr11:4430325-4430326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575348884	chr11:4430404-4430405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386749987	chr11:4430501-4430502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10836030	chr11:4430507-4430508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528669986	chr11:4430515-4430516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540970034	chr11:4430518-4430519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs66592813	chr11:4430526-4430527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61097725	chr11:4430530-4430531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562373817	chr11:4430562-4430563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369903421	chr11:4430570-4430571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529572940	chr11:4430606-4430607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386749988	chr11:4430631-4430632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568845554	chr11:4430644-4430645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10836031	chr11:4430658-4430659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs536910094	chr11:4430682-4430683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369639781	chr11:4430710-4430711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373066803	chr11:4430746-4430747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566698318	chr11:4430754-4430755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533743061	chr11:4430762-4430763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548720483	chr11:4430821-4430822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1376678	chr11:4430863-4430864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537713818	chr11:4430879-4430880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189561023	chr11:4430888-4430889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182214776	chr11:4430902-4430903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1376679	chr11:4430936-4430937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs187638360	chr11:4430965-4430966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141290914	chr11:4430970-4430971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144810331	chr11:4430978-4430979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540482129	chr11:4430989-4430990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562230516	chr11:4430999-4431000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138694649	chr11:4431012-4431013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78630186	chr11:4431022-4431023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140262202	chr11:4431026-4431027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1376680	chr11:4431047-4431048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551499175	chr11:4431059-4431060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555603763	chr11:4431086-4431087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527338168	chr11:4431087-4431088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4428200-4439200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr11:4428600-4433200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:4433200-4434000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:4434000-4435800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:4435800-4437000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:4437000-4438600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:4437800-4438200	Enhancers	Fetal Intestine Small	intestine
8	chr11:4438000-4438400	Enhancers	Fetal Intestine Large	intestine
9	chr11:4438200-4441200	Weak transcription	Fetal Intestine Small	intestine
10	chr11:4438600-4441600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:4439200-4440200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:4439400-4440200	Enhancers	Pancreas	Pancrea
13	chr11:4440000-4440200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:4440200-4442800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:4441600-4444600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:4442800-4443200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:4443200-4444800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:4444600-4444800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr11:4444800-4445400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr11:4444800-4445600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr11:4445400-4453000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:4445600-4447200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:4447200-4447800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:4447800-4448400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:4448400-4453400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:4450600-4453400	Enhancers	Fetal Intestine Small	intestine
27	chr11:4450600-4453600	Enhancers	Fetal Intestine Large	intestine
28	chr11:4450800-4451600	Enhancers	Stomach Mucosa	stomach
29	chr11:4453000-4459600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr11:4453200-4453400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:4453400-4454800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr11:4454400-4454800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr11:4454800-4455200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr11:4454800-4455800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:4454800-4464800	Weak transcription	Pancreas	Pancrea
36	chr11:4455200-4459200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:4455600-4456200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:4455800-4456600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:4455800-4456800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:4455800-4457400	Enhancers	Monocytes-CD14+_RO01746	blood

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