Variant report

Variant	nsv1046487
Chromosome Location	chr11:56228761-56310644
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	chr11:56298548-56298677	K562	blood:	n/a	chr11:56298562-56298573 chr11:56298561-56298574
2	CEBPB	chr11:56292494-56292630	A549	lung:	n/a	n/a
3	CEBPB	chr11:56299193-56299386	A549	lung:	n/a	chr11:56299319-56299332 chr11:56299319-56299330
4	CEBPB	chr11:56240213-56240354	HepG2	liver:	n/a	chr11:56240268-56240279
5	CEBPB	chr11:56298482-56298726	IMR90	lung:	n/a	chr11:56298562-56298573 chr11:56298561-56298574
6	CEBPB	chr11:56292462-56292582	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr11:56289541-56289703	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr11:56298468-56298699	HepG2	liver:	n/a	chr11:56298562-56298573 chr11:56298561-56298574
9	CTCF	chr11:56289501-56289670	LNCaP	prostate:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
10	CTCF	chr11:56289440-56289590	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:56289515-56289628	Lung_OC	lung:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
12	CTCF	chr11:56289549-56289624	Kidney_OC	kidney:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
13	CTCF	chr11:56289495-56289670	LNCaP	prostate:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
14	CTCF	chr11:56275976-56276045	Medullo	brain:	n/a	n/a
15	CTCF	chr11:56289440-56289590	GM12874	blood:	n/a	n/a
16	CTCF	chr11:56287760-56287910	RPTEC	kidney:	n/a	n/a
17	CTCF	chr11:56237307-56237349	LNCaP	prostate:	n/a	n/a
18	CTCF	chr11:56289460-56289610	GM12868	blood:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
19	CTCF	chr11:56289487-56289689	MCF-7	breast:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
20	CTCF	chr11:56289524-56289635	K562	blood:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
21	CTCF	chr11:56289460-56289610	GM12865	blood:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
22	CTCF	chr11:56289527-56289629	GM12892	blood:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
23	CTCF	chr11:56289524-56289644	GM12878	blood:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
24	CTCF	chr11:56289500-56289650	SK-N-SH_RA	brain:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
25	CTCF	chr11:56289500-56289650	RPTEC	kidney:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
26	CTCF	chr11:56278486-56278528	GM13976	blood:	n/a	n/a
27	CTCF	chr11:56289517-56289652	HepG2	liver:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
28	CTCF	chr11:56289500-56289650	HepG2	liver:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
29	CTCF	chr11:56289560-56289710	GM12872	blood:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
30	CTCF	chr11:56289462-56289716	A549	lung:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
31	CTCF	chr11:56289498-56289637	SK-N-SH_RA	brain:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
32	CTCF	chr11:56289517-56289669	K562	blood:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
33	CTCF	chr11:56289400-56289550	A549	lung:	n/a	n/a
34	CTCF	chr11:56275871-56275912	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr11:56289500-56289650	Caco-2	colon:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
36	CTCF	chr11:56289480-56289630	Caco-2	colon:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
37	CTCF	chr11:56289480-56289630	WERI-Rb-1	eye:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
38	CTCF	chr11:56289520-56289670	BE2_C	brain:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
39	CTCF	chr11:56289498-56289676	A549	lung:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
40	CTCF	chr11:56289467-56289637	HepG2	liver:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
41	CTCF	chr11:56289480-56289630	AG10803	skin:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
42	CTCF	chr11:56289032-56290037	A549	lung:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
43	CTCF	chr11:56289524-56289695	IMR90	lung:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
44	CTCF	chr11:56289304-56289801	SK-N-SH	brain:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
45	CTCF	chr11:56289480-56289630	NB4	blood:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
46	CTCF	chr11:56289580-56289730	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr11:56289500-56289650	GM12873	blood:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
48	CTCF	chr11:56289501-56289677	MCF-7	breast:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591
49	CTCF	chr11:56289060-56289210	A549	lung:	n/a	n/a
50	CTCF	chr11:56289500-56289650	MCF-7	breast:	n/a	chr11:56289575-56289593 chr11:56289577-56289598 chr11:56289578-56289591

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56239108-56239158	HepG2	liver:	n/a
2	chr11:56239108-56239158	HepG2	liver:	n/a
3	chr11:56264782-56264832	SK-N-SH	brain:	n/a
4	chr11:56259268-56259318	NT2-D1	testis:	n/a
5	chr11:56258856-56258906	HRPEpiC	eye:	n/a
6	chr11:56264637-56264687	IMR90	lung:	fetal
7	chr11:56258485-56258535	RPTEC	kidney:	n/a
8	chr11:56309888-56309938	NT2-D1	testis:	n/a
9	chr11:56258485-56258535	GM19239	blood:	n/a
10	chr11:56239108-56239158	HRPEpiC	eye:	n/a
11	chr11:56309888-56309938	HCM	heart:	n/a
12	chr11:56259268-56259318	SAEC	small airway:	n/a
13	chr11:56264637-56264687	ECC-1	luminal epithelium:	n/a
14	chr11:56258485-56258535	HUVEC	blood vessel:	n/a
15	chr11:56230456-56230506	AG04449	skin:	fetal
16	chr11:56309888-56309938	RPTEC	kidney:	n/a
17	chr11:56259243-56259293	AG04449	skin:	fetal
18	chr11:56259243-56259293	GM12892	blood:	n/a
19	chr11:56264782-56264832	SK-N-SH_RA	brain:	n/a
20	chr11:56230456-56230506	HEK293	kidney:	embryo
21	chr11:56264637-56264687	Hepatocyte	liver:	n/a
22	chr11:56239108-56239158	HL-60	blood:	n/a
23	chr11:56230456-56230506	HCPEpiC	choroid plexus:	n/a
24	chr11:56309888-56309938	BJ	skin:	n/a
25	chr11:56258485-56258535	T-47D	breast:	n/a
26	chr11:56237629-56237679	T-47D	breast:	n/a
27	chr11:56309888-56309938	HRE	kidney:	n/a
28	chr11:56237629-56237679	A549	lung:	n/a
29	chr11:56264637-56264687	NHBE	bronchial:	n/a
30	chr11:56258485-56258535	U87	brain:	n/a
31	chr11:56258856-56258906	K562	blood:	n/a
32	chr11:56258485-56258535	HAEpiC	amniotic membrane:	n/a
33	chr11:56259243-56259293	HepG2	liver:	n/a
34	chr11:56237629-56237679	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:56259243-56259293	GM12891	blood:	n/a
36	chr11:56264782-56264832	NHBE	bronchial:	n/a
37	chr11:56258485-56258535	BE2_C	brain:	n/a
38	chr11:56259268-56259318	HEK293	kidney:	embryo
39	chr11:56239108-56239158	HCM	heart:	n/a
40	chr11:56239108-56239158	HUVEC	blood vessel:	n/a
41	chr11:56309888-56309938	HPAEpiC	pulmonary alveolar:	n/a
42	chr11:56258856-56258906	NH-A	brain:	n/a
43	chr11:56237629-56237679	AG09309	skin:	n/a
44	chr11:56237629-56237679	Caco-2	colon:	n/a
45	chr11:56230456-56230506	BE2_C	brain:	n/a
46	chr11:56259268-56259318	A549	lung:	n/a
47	chr11:56264782-56264832	AG09309	skin:	n/a
48	chr11:56264637-56264687	K562	blood:	n/a
49	chr11:56264782-56264832	NT2-D1	testis:	n/a
50	chr11:56264782-56264832	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56288968..56289520-chr11:56550857..56551450,2	MCF-7	breast:

Variant related genes	Relation type
OR5M7P	TF binding region
OR5M3	TF binding region
OR5M6P	TF binding region
OR5M5P	TF binding region
OR5M2P	TF binding region
OR5M8	TF binding region
ENSG00000254411	TF binding region
ENSG00000254660	TF binding region
OR5M9	TF binding region
OR5M7P	CpG island
OR5M3	CpG island
OR5M6P	CpG island
OR5M5P	CpG island
OR5M2P	CpG island
OR5M8	CpG island
ENSG00000254411	CpG island
ENSG00000254660	CpG island
OR5M9	CpG island

Extended variants
information (count: 1233 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1233 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200839682	chr11:56231727-56231728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548264444	chr11:56231737-56231738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs548668874	chr11:56231739-56231740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs570039164	chr11:56231741-56231742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568550039	chr11:56231771-56231772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs147527726	chr11:56238609-56238610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs17150695	chr11:56238650-56238651	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548256819	chr11:56239108-56239109	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs149232750	chr11:56239109-56239110	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs7105033	chr11:56239141-56239142	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557876280	chr11:56240238-56240239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189191903	chr11:56240267-56240268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540219414	chr11:56240287-56240288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs597102	chr11:56240299-56240300	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs621826	chr11:56240305-56240306	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115442551	chr11:56240316-56240317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563452654	chr11:56240329-56240330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530775662	chr11:56240336-56240337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs545907505	chr11:56240337-56240338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs563985224	chr11:56240338-56240339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs567937129	chr11:56240343-56240344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184180787	chr11:56240412-56240413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs538968786	chr11:56240423-56240424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558320246	chr11:56240501-56240502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs529526789	chr11:56240511-56240512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs550888354	chr11:56240517-56240518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542144267	chr11:56240852-56240853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs624412	chr11:56240879-56240880	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551653903	chr11:56241461-56241462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs637202	chr11:56241490-56241491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534016805	chr11:56241521-56241522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549505103	chr11:56241527-56241528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550662974	chr11:56241533-56241534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76875327	chr11:56241541-56241542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376663706	chr11:56241572-56241573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146494736	chr11:56241588-56241589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556601411	chr11:56241596-56241597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12364088	chr11:56241629-56241630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575581843	chr11:56241634-56241635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7103657	chr11:56241642-56241643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202206319	chr11:56241755-56241756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557653750	chr11:56241782-56241783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576837771	chr11:56241896-56241897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180790729	chr11:56241947-56241948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561861844	chr11:56241985-56241986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573410835	chr11:56241999-56242000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543756913	chr11:56242002-56242003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562164208	chr11:56242008-56242009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533410836	chr11:56242029-56242030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187276714	chr11:56242050-56242051	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
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
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56241400-56243600	Enhancers	Fetal Intestine Large	intestine
2	chr11:56241800-56243600	Enhancers	Fetal Intestine Small	intestine
3	chr11:56250200-56250400	Weak transcription	Fetal Intestine Large	intestine
4	chr11:56250400-56251000	Enhancers	Fetal Intestine Small	intestine
5	chr11:56250400-56251200	Enhancers	Fetal Intestine Large	intestine
6	chr11:56251000-56253200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:56251200-56253600	Weak transcription	Fetal Intestine Large	intestine
8	chr11:56253200-56256200	Enhancers	Fetal Intestine Small	intestine
9	chr11:56253600-56256400	Enhancers	Fetal Intestine Large	intestine
10	chr11:56260400-56261200	Enhancers	Fetal Brain Male	brain
11	chr11:56261200-56261600	Weak transcription	Fetal Brain Male	brain
12	chr11:56261600-56261800	Enhancers	Fetal Brain Male	brain
13	chr11:56261800-56263200	Weak transcription	Fetal Brain Male	brain
14	chr11:56263200-56263600	Enhancers	Fetal Brain Male	brain
15	chr11:56269400-56271000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:56271200-56271800	Enhancers	Fetal Brain Male	brain
17	chr11:56271800-56273000	Weak transcription	Fetal Brain Male	brain
18	chr11:56273000-56273600	Enhancers	Fetal Brain Male	brain
19	chr11:56279800-56281400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:56292400-56293000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:56292600-56293000	Enhancers	Fetal Intestine Large	intestine
22	chr11:56292600-56293400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr11:56293000-56298400	Weak transcription	Fetal Intestine Large	intestine
24	chr11:56295200-56295600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:56298200-56298400	Enhancers	Fetal Intestine Small	intestine
26	chr11:56298400-56299400	Weak transcription	Fetal Intestine Small	intestine
27	chr11:56298400-56302000	Enhancers	Fetal Intestine Large	intestine
28	chr11:56299400-56301200	Enhancers	Fetal Intestine Small	intestine
29	chr11:56299800-56300600	Enhancers	Colonic Mucosa	Colon
30	chr11:56299800-56300600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr11:56299800-56301000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:56300400-56300800	Enhancers	Sigmoid Colon	Sigmoid Colon

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