Variant report

Variant	nsv521916
Chromosome Location	chr11:26485520-26605331
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	ATF2	chr11:26504503-26505121	GM12878	blood:	n/a	n/a
2	ATF2	chr11:26504639-26505116	GM12878	blood:	n/a	n/a
3	ATF2	chr11:26544464-26545008	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr11:26504569-26504943	GM12878	blood:	n/a	n/a
5	BATF	chr11:26493862-26494188	GM12878	blood:	n/a	n/a
6	BATF	chr11:26494420-26494627	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:26504619-26504949	GM12878	blood:	n/a	n/a
8	BCL11A	chr11:26494385-26494642	GM12878	blood:	n/a	n/a
9	BCL3	chr11:26504569-26505220	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:26593452-26593724	GM12878	blood:	n/a	n/a
11	BHLHE40	chr11:26573138-26573273	GM12878	blood:	n/a	n/a
12	BRCA1	chr11:26544501-26545118	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr11:26604880-26605618	MCF-7	breast:	n/a	chr11:26605215-26605226 chr11:26605270-26605281
14	CEBPB	chr11:26581660-26581852	Hela-S3	cervix:	n/a	chr11:26581747-26581758
15	CEBPB	chr11:26581580-26581780	H1-hESC	embryonic stem cell:	n/a	chr11:26581747-26581758
16	CEBPB	chr11:26492612-26492755	A549	lung:	n/a	n/a
17	CEBPB	chr11:26595593-26595864	HepG2	liver:	n/a	n/a
18	CEBPB	chr11:26555262-26555494	HepG2	liver:	n/a	n/a
19	CEBPB	chr11:26486864-26487007	A549	lung:	n/a	chr11:26486944-26486955 chr11:26486943-26486954 chr11:26486943-26486956 chr11:26486943-26486956
20	CEBPB	chr11:26597186-26597322	Hela-S3	cervix:	n/a	chr11:26597230-26597241
21	CEBPB	chr11:26581617-26581932	HepG2	liver:	n/a	chr11:26581747-26581758
22	CEBPB	chr11:26581619-26581894	IMR90	lung:	n/a	chr11:26581747-26581758
23	CEBPB	chr11:26595511-26595872	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:26597137-26597408	IMR90	lung:	n/a	chr11:26597230-26597241
25	CEBPB	chr11:26486827-26487033	HepG2	liver:	n/a	chr11:26486944-26486955 chr11:26486943-26486954 chr11:26486943-26486956 chr11:26486943-26486956
26	CEBPB	chr11:26579768-26580050	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr11:26595644-26595769	A549	lung:	n/a	n/a
28	CEBPB	chr11:26605018-26605520	ECC-1	luminal epithelium:	n/a	chr11:26605215-26605226 chr11:26605270-26605281
29	CEBPB	chr11:26597168-26597409	A549	lung:	n/a	chr11:26597230-26597241
30	CEBPB	chr11:26597092-26597408	K562	blood:	n/a	chr11:26597230-26597241
31	CEBPB	chr11:26605119-26605451	A549	lung:	n/a	chr11:26605215-26605226 chr11:26605270-26605281
32	CEBPB	chr11:26604996-26605578	MCF-7	breast:	n/a	chr11:26605215-26605226 chr11:26605270-26605281
33	CEBPB	chr11:26589040-26589152	A549	lung:	n/a	n/a
34	CEBPB	chr11:26521385-26521515	A549	lung:	n/a	n/a
35	CEBPB	chr11:26604992-26605507	ECC-1	luminal epithelium:	n/a	chr11:26605215-26605226 chr11:26605270-26605281
36	CEBPB	chr11:26605110-26605438	HepG2	liver:	n/a	chr11:26605215-26605226 chr11:26605270-26605281
37	CEBPB	chr11:26605130-26605428	IMR90	lung:	n/a	chr11:26605215-26605226 chr11:26605270-26605281
38	CEBPB	chr11:26567018-26567161	HepG2	liver:	n/a	chr11:26567100-26567109
39	CEBPB	chr11:26581593-26581864	A549	lung:	n/a	chr11:26581747-26581758
40	CEBPB	chr11:26597079-26597395	HepG2	liver:	n/a	chr11:26597230-26597241
41	CEBPB	chr11:26605103-26605470	Hela-S3	cervix:	n/a	chr11:26605215-26605226 chr11:26605270-26605281
42	CHD1	chr11:26576513-26576554	GM12878	blood:	n/a	n/a
43	CHD2	chr11:26544465-26545141	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr11:26593546-26593793	GM12878	blood:	n/a	n/a
45	CHD2	chr11:26544556-26544855	HepG2	liver:	n/a	n/a
46	CHD2	chr11:26493628-26493647	GM12878	blood:	n/a	n/a
47	CHD2	chr11:26544590-26544883	GM12878	blood:	n/a	n/a
48	CTCF	chr11:26572860-26573010	GM12865	blood:	n/a	chr11:26572926-26572944 chr11:26572921-26572942 chr11:26572931-26572939
49	CTCF	chr11:26572760-26572910	NHLF	lung:	n/a	n/a
50	CTCF	chr11:26544520-26544670	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:26594620-26594670	Caco-2	colon:	n/a
2	chr11:26593881-26593931	HCPEpiC	choroid plexus:	n/a
3	chr11:26594620-26594670	Caco-2	colon:	n/a
4	chr11:26593881-26593931	HCPEpiC	choroid plexus:	n/a
5	chr11:26523296-26523346	SKMC	muscle:	n/a
6	chr11:26593556-26593606	PrEC	prostate:	n/a
7	chr11:26594620-26594670	SK-N-SH_RA	brain:	n/a
8	chr11:26593556-26593606	HCF	heart:	n/a
9	chr11:26523296-26523346	HCT-116	colon:	n/a
10	chr11:26594782-26594832	MCF10A-Er-Src	breast:	n/a
11	chr11:26544953-26545003	RPTEC	kidney:	n/a
12	chr11:26594782-26594832	PrEC	prostate:	n/a
13	chr11:26594782-26594832	HepG2	liver:	n/a
14	chr11:26593658-26593708	GM12878	blood:	n/a
15	chr11:26523296-26523346	T-47D	breast:	n/a
16	chr11:26523296-26523346	CMK	blood:	n/a
17	chr11:26523296-26523346	Jurkat	blood:	n/a
18	chr11:26593881-26593931	HCT-116	colon:	n/a
19	chr11:26581996-26582046	PFSK-1	brain:	n/a
20	chr11:26593881-26593931	NHBE	bronchial:	n/a
21	chr11:26581996-26582046	GM12892	blood:	n/a
22	chr11:26523296-26523346	NT2-D1	testis:	n/a
23	chr11:26593881-26593931	A549	lung:	n/a
24	chr11:26523296-26523346	HUVEC	blood vessel:	n/a
25	chr11:26593881-26593931	HRPEpiC	eye:	n/a
26	chr11:26594620-26594670	K562	blood:	n/a
27	chr11:26593556-26593606	ECC-1	luminal epithelium:	n/a
28	chr11:26593881-26593931	AG04450	lung:	fetal
29	chr11:26594620-26594670	SAEC	small airway:	n/a
30	chr11:26593556-26593606	NH-A	brain:	n/a
31	chr11:26593658-26593708	A549	lung:	n/a
32	chr11:26523296-26523346	AoSMC	blood vessel:	n/a
33	chr11:26523296-26523346	GM19239	blood:	n/a
34	chr11:26593881-26593931	PANC-1	pancreas:	n/a
35	chr11:26581996-26582046	Caco-2	colon:	n/a
36	chr11:26593658-26593708	ovcar-3	ovarian:	n/a
37	chr11:26593556-26593606	SKMC	muscle:	n/a
38	chr11:26523296-26523346	AG04450	lung:	fetal
39	chr11:26581996-26582046	SK-N-SH_RA	brain:	n/a
40	chr11:26594620-26594670	SK-N-MC	brain:	n/a
41	chr11:26593556-26593606	PANC-1	pancreas:	n/a
42	chr11:26594782-26594832	SK-N-SH_RA	brain:	n/a
43	chr11:26593658-26593708	Hepatocyte	liver:	n/a
44	chr11:26581996-26582046	SK-N-SH	brain:	n/a
45	chr11:26544953-26545003	AG04450	lung:	fetal
46	chr11:26544953-26545003	AG10803	skin:	n/a
47	chr11:26593658-26593708	AG04449	skin:	fetal
48	chr11:26594620-26594670	NHBE	bronchial:	n/a
49	chr11:26593556-26593606	HIPEpiC	eye:	n/a
50	chr11:26544953-26545003	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr11:26586123..26588285-chr11:26619056..26621228,2	K562	blood:
2	chr11:26318636..26319225-chr11:26543911..26544770,2	MCF-7	breast:
3	chr11:26544159..26545613-chr11:26671003..26672359,7	MCF-7	breast:
4	chr11:26594478..26596618-chr11:26598306..26601067,2	MCF-7	breast:
5	chr11:26594478..26596618-chr11:26598306..26601067,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FIBIN-3	chr11:26524765-26526329	NONHSAT018460

Variant related genes	Relation type
MUC15	TF binding region
ANO3	TF binding region
MUC15	CpG island
ANO3	CpG island

Extended variants
information (count: 4756 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:4756 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1493728	chr11:26485520-26485521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184823147	chr11:26485525-26485526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371300484	chr11:26485527-26485528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189297083	chr11:26485584-26485585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181718227	chr11:26485601-26485602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538810042	chr11:26485651-26485652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563353025	chr11:26485738-26485739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184185104	chr11:26485741-26485742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138183714	chr11:26485757-26485758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188591178	chr11:26485774-26485775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533900834	chr11:26485780-26485781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386751906	chr11:26485782-26485783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181168392	chr11:26485785-26485786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs408348	chr11:26485787-26485788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556536794	chr11:26485804-26485805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377762256	chr11:26485822-26485823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578005705	chr11:26485825-26485826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528359040	chr11:26485829-26485830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12794715	chr11:26485844-26485845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16915686	chr11:26485887-26485888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560411055	chr11:26485976-26485977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141413135	chr11:26486018-26486019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186258117	chr11:26486037-26486038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374047340	chr11:26486047-26486048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561124294	chr11:26486058-26486059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369610380	chr11:26486061-26486062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577501053	chr11:26486177-26486178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7936486	chr11:26486219-26486220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566705680	chr11:26486263-26486264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189582453	chr11:26486314-26486315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150413484	chr11:26486365-26486366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547553862	chr11:26486404-26486405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1022070	chr11:26486448-26486449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558834055	chr11:26486458-26486459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533627517	chr11:26486461-26486462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549106644	chr11:26486486-26486487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138751012	chr11:26486605-26486606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537806857	chr11:26486634-26486635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536807757	chr11:26486657-26486658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556196582	chr11:26486658-26486659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370148147	chr11:26486660-26486661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200894196	chr11:26486672-26486673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538949744	chr11:26486697-26486698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58481961	chr11:26486701-26486702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56694605	chr11:26486705-26486706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147178671	chr11:26486709-26486710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553987445	chr11:26486713-26486714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555312158	chr11:26486784-26486785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572252930	chr11:26486788-26486789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116333807	chr11:26486800-26486801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26472000-26503600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:26488000-26488200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:26488200-26494800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:26488800-26489800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:26489200-26489800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:26494800-26495000	Enhancers	Fetal Intestine Small	intestine
7	chr11:26494800-26495600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:26494800-26495600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:26495600-26495800	Enhancers	Fetal Intestine Small	intestine
10	chr11:26496800-26498200	Active TSS	Brain Anterior Caudate	brain
11	chr11:26498800-26499600	Enhancers	Stomach Mucosa	stomach
12	chr11:26503600-26505000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:26505000-26505800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:26505800-26506400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:26506000-26506200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:26506200-26512600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:26506400-26564600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:26512200-26513000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:26515000-26515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:26515000-26515600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:26515200-26516000	Enhancers	Fetal Brain Male	brain
22	chr11:26525600-26526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:26526200-26529400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:26529400-26529800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:26529800-26531200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:26531200-26533800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:26532000-26532600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:26532000-26532600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:26532400-26534000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:26532600-26533600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:26533800-26534000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:26533800-26540800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:26540800-26542000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:26540800-26543200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:26541000-26542000	Enhancers	Adipose Nuclei	Adipose
36	chr11:26544400-26545200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:26544400-26545200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:26544400-26545400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:26544400-26545600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:26544600-26545000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:26544600-26545200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:26544600-26545200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr11:26544600-26545200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:26544600-26545400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr11:26544600-26545400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr11:26544800-26545200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr11:26544800-26545200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:26545200-26545400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:26545200-26545400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:26545400-26545600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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