Variant report

Variant	nsv897137
Chromosome Location	chr11:25730008-25796742
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	ARID3A	chr11:25758683-25759020	HepG2	liver:	n/a	n/a
2	ATF1	chr11:25756688-25756790	K562	blood:	n/a	n/a
3	BRCA1	chr11:25766627-25766768	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr11:25748088-25748207	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:25755348-25755781	Hela-S3	cervix:	n/a	chr11:25755487-25755500
6	CEBPB	chr11:25767068-25767839	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr11:25767143-25767521	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:25760351-25760543	A549	lung:	n/a	chr11:25760460-25760471
9	CEBPB	chr11:25767206-25767744	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:25756183-25756490	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr11:25734574-25734774	HepG2	liver:	n/a	chr11:25734672-25734683
12	CEBPB	chr11:25732290-25733191	Hela-S3	cervix:	n/a	chr11:25732793-25732805
13	CEBPB	chr11:25760324-25760536	HepG2	liver:	n/a	chr11:25760460-25760471
14	CEBPB	chr11:25767438-25767649	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr11:25767482-25767804	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr11:25760363-25760551	K562	blood:	n/a	chr11:25760460-25760471
17	CEBPB	chr11:25767185-25767645	A549	lung:	n/a	n/a
18	CEBPB	chr11:25767508-25767814	MCF-7	breast:	n/a	n/a
19	CHD1	chr11:25756180-25756251	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr11:25790872-25791180	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr11:25755520-25755670	HMF	breast:	n/a	n/a
22	CTCF	chr11:25756240-25756390	GM12875	blood:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
23	CTCF	chr11:25756240-25756390	HMEC	breast:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
24	CTCF	chr11:25755340-25755490	SAEC	small airway:	n/a	n/a
25	CTCF	chr11:25755440-25755590	HMEC	breast:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
26	CTCF	chr11:25756240-25756390	SAEC	small airway:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
27	CTCF	chr11:25756240-25756390	HCFaa	heart:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
28	CTCF	chr11:25756260-25756410	NHEK	skin:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
29	CTCF	chr11:25756300-25756450	GM12866	blood:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
30	CTCF	chr11:25756280-25756430	MCF-7	breast:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
31	CTCF	chr11:25756360-25756510	HVMF	connective:	n/a	n/a
32	CTCF	chr11:25756200-25756350	GM12873	blood:	n/a	n/a
33	CTCF	chr11:25755416-25755570	HepG2	liver:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
34	CTCF	chr11:25756220-25756370	GM12865	blood:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
35	CTCF	chr11:25755340-25755490	HAc	cerebellar:	n/a	n/a
36	CTCF	chr11:25755480-25755630	HPAF	blood vessel:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
37	CTCF	chr11:25756125-25756477	MCF-7	breast:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
38	CTCF	chr11:25755379-25755600	MCF-7	breast:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
39	CTCF	chr11:25755436-25755588	Kidney_OC	kidney:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
40	CTCF	chr11:25755440-25755590	HPAF	blood vessel:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
41	CTCF	chr11:25756260-25756410	AG04449	skin:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
42	CTCF	chr11:25755440-25755590	HBMEC	blood vessel:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
43	CTCF	chr11:25756275-25756455	Pancreas_OC	pancreas:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
44	CTCF	chr11:25755433-25755564	HUVEC	blood vessel:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
45	CTCF	chr11:25756260-25756410	HEEpiC	esophagus:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
46	CTCF	chr11:25756260-25756410	HMEC	breast:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
47	CTCF	chr11:25756293-25756419	GM20000	blood:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
48	CTCF	chr11:25755440-25755590	Hela-S3	cervix:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
49	CTCF	chr11:25755420-25755570	Hela-S3	cervix:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
50	CTCF	chr11:25755400-25755550	HMEC	breast:	n/a	chr11:25755493-25755514 chr11:25755498-25755516

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:25794249-25794299	HCT-116	colon:	n/a
2	chr11:25794249-25794299	SK-N-MC	brain:	n/a
3	chr11:25794249-25794299	BE2_C	brain:	n/a
4	chr11:25794249-25794299	AoSMC	blood vessel:	n/a
5	chr11:25794249-25794299	U87	brain:	n/a
6	chr11:25794249-25794299	HCPEpiC	choroid plexus:	n/a
7	chr11:25794249-25794299	Jurkat	blood:	n/a
8	chr11:25794249-25794299	GM12892	blood:	n/a
9	chr11:25794249-25794299	HMEC	breast:	n/a
10	chr11:25794249-25794299	Caco-2	colon:	n/a
11	chr11:25794249-25794299	IMR90	lung:	fetal
12	chr11:25794249-25794299	NH-A	brain:	n/a
13	chr11:25794249-25794299	AG09319	gingival:	n/a
14	chr11:25794249-25794299	MCF10A-Er-Src	breast:	n/a
15	chr11:25794249-25794299	NB4	blood:	n/a
16	chr11:25794249-25794299	AG04449	skin:	fetal
17	chr11:25794249-25794299	HPAEpiC	pulmonary alveolar:	n/a
18	chr11:25794249-25794299	Hepatocyte	liver:	n/a
19	chr11:25794249-25794299	HEEpiC	esophagus:	n/a
20	chr11:25794249-25794299	PFSK-1	brain:	n/a
21	chr11:25794249-25794299	HCF	heart:	n/a
22	chr11:25794249-25794299	NHDF-neo	bronchial:	n/a
23	chr11:25794249-25794299	AG04450	lung:	fetal
24	chr11:25794249-25794299	GM06990	blood:	n/a
25	chr11:25794249-25794299	SAEC	small airway:	n/a
26	chr11:25794249-25794299	HNPCEpiC	eye:	n/a
27	chr11:25794249-25794299	HUVEC	blood vessel:	n/a
28	chr11:25794249-25794299	K562	blood:	n/a
29	chr11:25794249-25794299	NT2-D1	testis:	n/a
30	chr11:25794249-25794299	AG10803	skin:	n/a
31	chr11:25794249-25794299	HCM	heart:	n/a
32	chr11:25794249-25794299	HL-60	blood:	n/a
33	chr11:25794249-25794299	AG09309	skin:	n/a
34	chr11:25794249-25794299	LNCaP	prostate:	n/a
35	chr11:25794249-25794299	A549	lung:	n/a
36	chr11:25794249-25794299	CMK	blood:	n/a
37	chr11:25794249-25794299	ECC-1	luminal epithelium:	n/a
38	chr11:25794249-25794299	HAEpiC	amniotic membrane:	n/a
39	chr11:25794249-25794299	T-47D	breast:	n/a
40	chr11:25794249-25794299	HRE	kidney:	n/a
41	chr11:25794249-25794299	PANC-1	pancreas:	n/a
42	chr11:25794249-25794299	RPTEC	kidney:	n/a
43	chr11:25794249-25794299	MCF-7	breast:	n/a
44	chr11:25794249-25794299	H1-hESC	embryonic stem cell:	embryo
45	chr11:25794249-25794299	PrEC	prostate:	n/a
46	chr11:25794249-25794299	HIPEpiC	eye:	n/a
47	chr11:25794249-25794299	HRCEpiC	kidney:	n/a
48	chr11:25794249-25794299	ovcar-3	ovarian:	n/a
49	chr11:25794249-25794299	BJ	skin:	n/a
50	chr11:25794249-25794299	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:24802835..24803539-chr11:25755478..25755981,2	MCF-7	breast:
2	chr11:24801274..24801786-chr11:25755056..25755745,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANO3-3	chr11:25762023-25762107	ENSG00000254456
2	lnc-ANO3-3	chr11:25792018-25792115	NONHSAT018451
3	lnc-ANO3-3	chr11:25762023-25762107	ENSG00000254456
4	lnc-ANO3-3	chr11:25762023-25762107	NONHSAT018451
5	lnc-ANO3-3	chr11:25795717-25795970	ENSG00000254456
6	lnc-ANO3-3	chr11:25756356-25756416	ENSG00000254456
7	lnc-ANO3-3	chr11:25795717-25795970	NONHSAT018451
8	lnc-ANO3-3	chr11:25756317-25756416	NONHSAT018451
9	lnc-ANO3-3	chr11:25788759-25788835	ENSG00000254456
10	lnc-ANO3-3	chr11:25788759-25788835	NONHSAT018451
11	lnc-ANO3-3	chr11:25756317-25756416	ENSG00000254456
12	lnc-ANO3-3	chr11:25756317-25756416	ENSG00000254456
13	lnc-ANO3-3	chr11:25792018-25792115	ENSG00000254456
14	lnc-ANO3-3	chr11:25792018-25792115	ENSG00000254456

Variant related genes	Relation type
ENSG00000254456	TF binding region
ENSG00000254456	CpG island

Extended variants
information (count: 884 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141266989	chr11:25732400-25732401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539926945	chr11:25732452-25732453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533226139	chr11:25732494-25732495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185523655	chr11:25732530-25732531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115644296	chr11:25732575-25732576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566752913	chr11:25732632-25732633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12282808	chr11:25732634-25732635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs16914446	chr11:25732649-25732650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567376226	chr11:25732684-25732685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79132845	chr11:25732690-25732691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375309408	chr11:25732740-25732741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1493674	chr11:25732823-25732824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189985266	chr11:25732841-25732842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556305526	chr11:25732847-25732848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180885899	chr11:25732892-25732893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545354602	chr11:25732902-25732903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143607049	chr11:25732908-25732909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539209140	chr11:25732964-25732965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554495366	chr11:25732970-25732971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150318410	chr11:25732975-25732976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540184955	chr11:25732980-25732981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138299371	chr11:25732982-25732983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535943895	chr11:25733093-25733094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149613005	chr11:25733134-25733135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186125336	chr11:25733143-25733144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191024759	chr11:25733151-25733152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77207368	chr11:25733248-25733249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371938260	chr11:25733264-25733265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76904909	chr11:25733265-25733266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533212504	chr11:25733278-25733279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551380041	chr11:25733283-25733284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74373727	chr11:25733304-25733305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184015761	chr11:25733315-25733316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76174040	chr11:25733340-25733341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78866710	chr11:25733368-25733369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527596178	chr11:25733378-25733379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549331742	chr11:25733380-25733381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78547639	chr11:25733409-25733410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567339261	chr11:25733452-25733453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537934022	chr11:25733466-25733467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549890820	chr11:25733489-25733490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578186933	chr11:25733502-25733503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188996281	chr11:25733504-25733505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111556557	chr11:25733530-25733531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554079512	chr11:25733531-25733532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113253439	chr11:25733570-25733571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572651889	chr11:25733612-25733613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2349237	chr11:25733619-25733620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555365535	chr11:25733640-25733641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553529719	chr11:25733643-25733644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25732400-25732800	Enhancers	Hela-S3	cervix
2	chr11:25732800-25734800	Weak transcription	Hela-S3	cervix
3	chr11:25734800-25735000	Enhancers	Hela-S3	cervix
4	chr11:25750600-25750800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:25750600-25750800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:25750600-25750800	ZNF genes & repeats	Pancreas	Pancrea
7	chr11:25751200-25751800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:25752600-25755000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:25755000-25756200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:25755600-25756800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:25756600-25756800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:25756600-25757000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:25757800-25759800	Enhancers	HepG2	liver
14	chr11:25758800-25759000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:25767000-25767400	Enhancers	Hela-S3	cervix
16	chr11:25767400-25767800	Active TSS	Hela-S3	cervix
17	chr11:25773800-25774800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:25774800-25775200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:25777400-25778000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:25777400-25778200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:25777600-25778000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:25778000-25779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:25779600-25780600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:25779600-25780800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:25788600-25789200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:25789000-25789200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:25789200-25790200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:25790200-25791000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:25790400-25791400	Enhancers	Hela-S3	cervix
30	chr11:25790600-25791200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr11:25790600-25791200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:25790600-25791400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:25791000-25791800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr11:25791200-25791800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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