Variant report

Variant	nsv540919
Chromosome Location	chr11:4453623-4475303
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	chr11:4464273-4464473	HepG2	liver:	n/a	chr11:4464335-4464348 chr11:4464336-4464347
2	CEBPB	chr11:4455134-4455441	HepG2	liver:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
3	CEBPB	chr11:4455223-4455382	K562	blood:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
4	CEBPB	chr11:4455143-4455440	IMR90	lung:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
5	CEBPB	chr11:4455124-4455430	A549	lung:	n/a	chr11:4455291-4455304 chr11:4455291-4455302 chr11:4455292-4455303
6	CTCF	chr11:4471055-4471136	GM13976	blood:	n/a	n/a
7	CTCF	chr11:4470999-4471099	GM10248	blood:	n/a	n/a
8	CTCF	chr11:4471026-4471044	GM13976	blood:	n/a	n/a
9	CTCF	chr11:4471780-4471930	GM12868	blood:	n/a	n/a
10	E2F4	chr11:4459321-4459406	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:4455144-4455486	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr11:4455190-4455494	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:4455156-4455484	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:4455221-4455357	MCF10A-Er-Src	breast:	n/a	n/a
15	MAFF	chr11:4471572-4471887	HepG2	liver:	n/a	chr11:4471704-4471722
16	MAFK	chr11:4471544-4471897	HepG2	liver:	n/a	chr11:4471705-4471719 chr11:4471706-4471721 chr11:4471706-4471717 chr11:4471707-4471718 chr11:4471706-4471717 chr11:4471706-4471722
17	MAFK	chr11:4470402-4470586	HepG2	liver:	n/a	chr11:4470495-4470510
18	MAFK	chr11:4470370-4470620	HepG2	liver:	n/a	chr11:4470495-4470510
19	MAFK	chr11:4471598-4471876	HepG2	liver:	n/a	chr11:4471705-4471719 chr11:4471706-4471721 chr11:4471706-4471717 chr11:4471707-4471718 chr11:4471706-4471717 chr11:4471706-4471722
20	MAFK	chr11:4471560-4471836	IMR90	lung:	n/a	chr11:4471705-4471719 chr11:4471706-4471721 chr11:4471706-4471717 chr11:4471707-4471718 chr11:4471706-4471717 chr11:4471706-4471722
21	MAZ	chr11:4464225-4464245	HepG2	liver:	n/a	n/a
22	MYC	chr11:4455199-4455387	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr11:4471245-4471332	MCF10A-Er-Src	breast:	n/a	n/a
24	NFYB	chr11:4469915-4469975	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:4470809-4470831	A549	lung:	n/a	n/a
26	POLR2A	chr11:4470762-4470797	A549	lung:	n/a	n/a
27	POLR2A	chr11:4462703-4463219	HL-60	blood:	n/a	n/a
28	POLR2A	chr11:4459904-4459959	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:4471045-4471075	A549	lung:	n/a	n/a
30	POLR2A	chr11:4474127-4474297	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:4470832-4470980	A549	lung:	n/a	n/a
32	POLR2A	chr11:4471093-4471127	A549	lung:	n/a	n/a
33	RAD21	chr11:4458537-4458734	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr11:4462729-4463069	HL-60	blood:	n/a	n/a
35	SPI1	chr11:4462708-4463111	HL-60	blood:	n/a	n/a
36	SPI1	chr11:4457767-4458086	HL-60	blood:	n/a	n/a
37	SPI1	chr11:4457507-4458163	HL-60	blood:	n/a	n/a
38	SPI1	chr11:4462703-4462987	HL-60	blood:	n/a	n/a
39	STAT3	chr11:4472537-4472737	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr11:4474246-4474466	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr11:4474289-4474530	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr11:4464328-4464411	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr11:4455156-4455356	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr11:4474250-4474566	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4456403-4456453	PANC-1	pancreas:	n/a
2	chr11:4456403-4456453	PANC-1	pancreas:	n/a
3	chr11:4471362-4471412	Hepatocyte	liver:	n/a
4	chr11:4471362-4471412	GM19239	blood:	n/a
5	chr11:4469604-4469654	A549	lung:	n/a
6	chr11:4456403-4456453	HRPEpiC	eye:	n/a
7	chr11:4471362-4471412	HAEpiC	amniotic membrane:	n/a
8	chr11:4469894-4469944	HNPCEpiC	eye:	n/a
9	chr11:4469894-4469944	ovcar-3	ovarian:	n/a
10	chr11:4469604-4469654	PFSK-1	brain:	n/a
11	chr11:4469604-4469654	AG10803	skin:	n/a
12	chr11:4471362-4471412	Hela-S3	cervix:	n/a
13	chr11:4469073-4469123	ovcar-3	ovarian:	n/a
14	chr11:4469604-4469654	GM12892	blood:	n/a
15	chr11:4469894-4469944	SK-N-SH	brain:	n/a
16	chr11:4471362-4471412	ovcar-3	ovarian:	n/a
17	chr11:4456403-4456453	NH-A	brain:	n/a
18	chr11:4456403-4456453	GM19239	blood:	n/a
19	chr11:4469073-4469123	K562	blood:	n/a
20	chr11:4469073-4469123	GM19239	blood:	n/a
21	chr11:4456403-4456453	SK-N-SH	brain:	n/a
22	chr11:4456403-4456453	H1-hESC	embryonic stem cell:	embryo
23	chr11:4456403-4456453	LNCaP	prostate:	n/a
24	chr11:4471362-4471412	SK-N-MC	brain:	n/a
25	chr11:4469604-4469654	HUVEC	blood vessel:	n/a
26	chr11:4469894-4469944	SAEC	small airway:	n/a
27	chr11:4469604-4469654	Jurkat	blood:	n/a
28	chr11:4456403-4456453	Caco-2	colon:	n/a
29	chr11:4471362-4471412	HepG2	liver:	n/a
30	chr11:4469894-4469944	GM12892	blood:	n/a
31	chr11:4469894-4469944	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:4469073-4469123	RPTEC	kidney:	n/a
33	chr11:4469073-4469123	AG09309	skin:	n/a
34	chr11:4469894-4469944	SK-N-MC	brain:	n/a
35	chr11:4469894-4469944	NH-A	brain:	n/a
36	chr11:4469894-4469944	HAEpiC	amniotic membrane:	n/a
37	chr11:4469073-4469123	HNPCEpiC	eye:	n/a
38	chr11:4456403-4456453	HL-60	blood:	n/a
39	chr11:4456403-4456453	U87	brain:	n/a
40	chr11:4471362-4471412	HRPEpiC	eye:	n/a
41	chr11:4456403-4456453	IMR90	lung:	fetal
42	chr11:4469073-4469123	CMK	blood:	n/a
43	chr11:4471362-4471412	NB4	blood:	n/a
44	chr11:4469073-4469123	SK-N-SH_RA	brain:	n/a
45	chr11:4456403-4456453	HRCEpiC	kidney:	n/a
46	chr11:4469604-4469654	NHBE	bronchial:	n/a
47	chr11:4469073-4469123	HRE	kidney:	n/a
48	chr11:4469073-4469123	AG09319	gingival:	n/a
49	chr11:4469894-4469944	NHBE	bronchial:	n/a
50	chr11:4469073-4469123	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4451655..4453436-chr11:4454768..4456529,2	K562	blood:
2	chr11:4453118..4455290-chr11:4455987..4457955,2	MCF-7	breast:

Variant related genes	Relation type
OR52P2P	TF binding region
ENSG00000221030	TF binding region
OR52K2	TF binding region
OR52P2P	CpG island
ENSG00000221030	CpG island
OR52K2	CpG island
ENSG00000171999	chromatin interactions

Extended variants
information (count: 1199 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139447603	chr11:4453645-4453646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543088023	chr11:4453652-4453653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187201194	chr11:4453707-4453708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564890983	chr11:4453733-4453734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531961851	chr11:4453752-4453753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192146623	chr11:4453768-4453769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542213348	chr11:4453777-4453778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547521989	chr11:4453854-4453855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565744442	chr11:4453882-4453883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112603909	chr11:4453900-4453901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182934280	chr11:4453985-4453986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372198894	chr11:4453987-4453988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529935044	chr11:4453995-4453996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563930948	chr11:4454031-4454032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548381345	chr11:4454064-4454065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569999141	chr11:4454065-4454066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561896527	chr11:4454083-4454084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112932788	chr11:4454112-4454113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116136490	chr11:4454130-4454131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556329765	chr11:4454132-4454133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571619705	chr11:4454162-4454163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188630481	chr11:4454172-4454173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75948400	chr11:4454213-4454214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572181302	chr11:4454259-4454260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542843709	chr11:4454286-4454287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149696847	chr11:4454289-4454290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4910980	chr11:4454297-4454298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs144474279	chr11:4454322-4454323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148771461	chr11:4454373-4454374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532146776	chr11:4454389-4454390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193235358	chr11:4454403-4454404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559517682	chr11:4454405-4454406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377213059	chr11:4454468-4454469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548444568	chr11:4454471-4454472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73422025	chr11:4454493-4454494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372367772	chr11:4454494-4454495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530573613	chr11:4454499-4454500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552454949	chr11:4454538-4454539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184795826	chr11:4454586-4454587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371342262	chr11:4454594-4454595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188917104	chr11:4454599-4454600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558874362	chr11:4454612-4454613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147968183	chr11:4454615-4454616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534766949	chr11:4454645-4454646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536340313	chr11:4454662-4454663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192142580	chr11:4454664-4454665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77644605	chr11:4454669-4454670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7951882	chr11:4454671-4454672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183817467	chr11:4454692-4454693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528070123	chr11:4454719-4454720	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4453000-4459600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:4453400-4454800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr11:4454400-4454800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:4454800-4455200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:4454800-4455800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:4454800-4464800	Weak transcription	Pancreas	Pancrea
7	chr11:4455200-4459200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:4455600-4456200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:4455800-4456600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:4455800-4456800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:4455800-4457400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr11:4456000-4456400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:4456600-4456800	Enhancers	Primary B cells from cord blood	blood
14	chr11:4457400-4458200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr11:4458200-4458400	Enhancers	Primary B cells from cord blood	blood
16	chr11:4458200-4459600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr11:4458400-4458800	Weak transcription	Primary B cells from cord blood	blood
18	chr11:4459200-4461200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:4459600-4460000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:4459600-4462600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:4460000-4460200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:4460200-4461800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:4461200-4462800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:4461800-4466400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:4462600-4463600	Enhancers	Primary B cells from cord blood	blood
26	chr11:4462600-4465400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:4462800-4463200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr11:4463200-4464800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr11:4464000-4464600	Enhancers	Fetal Intestine Small	intestine
30	chr11:4464000-4465400	Enhancers	Spleen	Spleen
31	chr11:4464800-4465000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:4464800-4465400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr11:4464800-4465400	Enhancers	Pancreas	Pancrea
34	chr11:4465000-4465400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:4465000-4465400	Enhancers	Placenta	Placenta
36	chr11:4465200-4465800	Enhancers	Adipose Nuclei	Adipose
37	chr11:4465400-4466200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr11:4465400-4466200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr11:4465400-4471000	Weak transcription	Spleen	Spleen
40	chr11:4466200-4469400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:4466200-4469600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:4466400-4469400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:4469400-4469800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr11:4469400-4470600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:4469600-4471200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:4469800-4470600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:4470600-4470800	ZNF genes & repeats	Ovary	ovary
48	chr11:4470600-4470800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:4470600-4471600	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:4470800-4471200	Genic enhancers	Monocytes-CD14+_RO01746	blood

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