Variant report

Variant	nsv982949
Chromosome Location	chr11:56361311-56395993
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	chr11:56392054-56392405	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:56392115-56392370	K562	blood:	n/a	n/a
3	ATF2	chr11:56392130-56392439	GM12878	blood:	n/a	n/a
4	ATF3	chr11:56392162-56392399	K562	blood:	n/a	n/a
5	BATF	chr11:56390864-56391136	GM12878	blood:	n/a	chr11:56390998-56391009
6	BATF	chr11:56392134-56392479	GM12878	blood:	n/a	chr11:56392263-56392274 chr11:56392281-56392292
7	BATF	chr11:56392069-56392469	GM12878	blood:	n/a	chr11:56392263-56392274 chr11:56392281-56392292
8	BCL11A	chr11:56392145-56392429	GM12878	blood:	n/a	n/a
9	BCL11A	chr11:56392083-56392500	GM12878	blood:	n/a	n/a
10	BRCA1	chr11:56362076-56362101	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:56392140-56392290	HMEC	breast:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
12	CTCF	chr11:56392120-56392270	GM06990	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
13	CTCF	chr11:56392140-56392290	Caco-2	colon:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
14	CTCF	chr11:56392060-56392210	GM12866	blood:	n/a	n/a
15	CTCF	chr11:56392100-56392250	GM12873	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
16	CTCF	chr11:56392200-56392350	GM12878	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
17	CTCF	chr11:56392140-56392290	BE2_C	brain:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
18	CTCF	chr11:56392160-56392310	GM12868	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
19	CTCF	chr11:56392100-56392250	GM12871	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
20	CTCF	chr11:56392160-56392310	HCFaa	heart:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
21	CTCF	chr11:56392140-56392290	AG10803	skin:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
22	CTCF	chr11:56392160-56392310	MCF-7	breast:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
23	CTCF	chr11:56392112-56392295	GM12878	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
24	CTCF	chr11:56392120-56392270	GM12873	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
25	CTCF	chr11:56392160-56392310	HBMEC	blood vessel:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
26	CTCF	chr11:56392200-56392350	AG04449	skin:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
27	CTCF	chr11:56392152-56392266	Lung_OC	lung:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
28	CTCF	chr11:56392120-56392270	HEEpiC	esophagus:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
29	CTCF	chr11:56392122-56392325	Spleen_OC	spleen:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
30	CTCF	chr11:56392100-56392250	GM06990	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
31	CTCF	chr11:56392124-56392340	LNCaP	prostate:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
32	CTCF	chr11:56392030-56392423	H1-hESC	embryonic stem cell:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
33	CTCF	chr11:56391853-56392599	SK-N-SH	brain:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
34	CTCF	chr11:56392119-56392327	HepG2	liver:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
35	CTCF	chr11:56392140-56392290	GM12867	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
36	CTCF	chr11:56392100-56392250	HBMEC	blood vessel:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
37	CTCF	chr11:56392120-56392270	HCM	heart:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
38	CTCF	chr11:56392220-56392370	GM12866	blood:	n/a	n/a
39	CTCF	chr11:56392225-56392240	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:56392140-56392290	HRE	kidney:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
41	CTCF	chr11:56392160-56392310	HCT-116	colon:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
42	CTCF	chr11:56362545-56362566	Lung_OC	lung:	n/a	n/a
43	CTCF	chr11:56392120-56392270	WERI-Rb-1	eye:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
44	CTCF	chr11:56392036-56392326	A549	lung:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
45	CTCF	chr11:56392120-56392270	RPTEC	kidney:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
46	CTCF	chr11:56392160-56392310	AG09309	skin:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
47	CTCF	chr11:56392140-56392290	HMF	breast:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
48	CTCF	chr11:56392140-56392290	AG09319	gingival:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
49	CTCF	chr11:56392146-56392289	K562	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
50	CTCF	chr11:56392051-56392389	HepG2	liver:	n/a	chr11:56392209-56392227 chr11:56392211-56392232

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56381677-56381727	NHDF-neo	bronchial:	n/a
2	chr11:56380614-56380664	NHDF-neo	bronchial:	n/a
3	chr11:56381067-56381117	PrEC	prostate:	n/a
4	chr11:56380614-56380664	HCM	heart:	n/a
5	chr11:56392848-56392898	Jurkat	blood:	n/a
6	chr11:56380614-56380664	ECC-1	luminal epithelium:	n/a
7	chr11:56392848-56392898	NHBE	bronchial:	n/a
8	chr11:56381067-56381117	ovcar-3	ovarian:	n/a
9	chr11:56392848-56392898	HAEpiC	amniotic membrane:	n/a
10	chr11:56380614-56380664	AoSMC	blood vessel:	n/a
11	chr11:56381124-56381174	LNCaP	prostate:	n/a
12	chr11:56392848-56392898	AG09319	gingival:	n/a
13	chr11:56381124-56381174	NHBE	bronchial:	n/a
14	chr11:56380614-56380664	AG04450	lung:	fetal
15	chr11:56392848-56392898	HEK293	kidney:	embryo
16	chr11:56380614-56380664	ovcar-3	ovarian:	n/a
17	chr11:56381067-56381117	Hepatocyte	liver:	n/a
18	chr11:56381067-56381117	U87	brain:	n/a
19	chr11:56381124-56381174	H1-hESC	embryonic stem cell:	embryo
20	chr11:56381067-56381117	MCF-7	breast:	n/a
21	chr11:56381067-56381117	SK-N-SH	brain:	n/a
22	chr11:56381677-56381727	SK-N-SH	brain:	n/a
23	chr11:56381124-56381174	HCF	heart:	n/a
24	chr11:56381677-56381727	HUVEC	blood vessel:	n/a
25	chr11:56381124-56381174	BJ	skin:	n/a
26	chr11:56381677-56381727	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:56381677-56381727	MCF-7	breast:	n/a
28	chr11:56380614-56380664	PrEC	prostate:	n/a
29	chr11:56392848-56392898	ovcar-3	ovarian:	n/a
30	chr11:56381677-56381727	HNPCEpiC	eye:	n/a
31	chr11:56392848-56392898	NHDF-neo	bronchial:	n/a
32	chr11:56381124-56381174	PFSK-1	brain:	n/a
33	chr11:56381124-56381174	HAEpiC	amniotic membrane:	n/a
34	chr11:56392848-56392898	Hepatocyte	liver:	n/a
35	chr11:56392848-56392898	A549	lung:	n/a
36	chr11:56380614-56380664	HCF	heart:	n/a
37	chr11:56381677-56381727	NHBE	bronchial:	n/a
38	chr11:56381677-56381727	HL-60	blood:	n/a
39	chr11:56381677-56381727	HRE	kidney:	n/a
40	chr11:56381677-56381727	HEK293	kidney:	embryo
41	chr11:56381124-56381174	ovcar-3	ovarian:	n/a
42	chr11:56381677-56381727	HRCEpiC	kidney:	n/a
43	chr11:56380614-56380664	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:56381677-56381727	HIPEpiC	eye:	n/a
45	chr11:56392848-56392898	HepG2	liver:	n/a
46	chr11:56392848-56392898	ECC-1	luminal epithelium:	n/a
47	chr11:56381067-56381117	GM19239	blood:	n/a
48	chr11:56380614-56380664	HepG2	liver:	n/a
49	chr11:56392848-56392898	ProgFib	skin:	n/a
50	chr11:56381067-56381117	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56391852..56392531-chr11:56550628..56551135,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR5AR1-1	chr11:56395143-56395303	ucscGeneNc_uc001njj_1
2	lnc-OR5AR1-1	chr11:56372530-56372667	ucscGeneNc_uc001njj_1

Variant related genes	Relation type
OR5M13P	TF binding region
OR5AM1P	TF binding region
OR5M12P	TF binding region
OR5M1	TF binding region
OR5M13P	CpG island
OR5AM1P	CpG island
OR5M12P	CpG island
OR5M1	CpG island

Extended variants
information (count: 292 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574859891	chr11:56372609-56372610	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546496205	chr11:56372636-56372637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs564575262	chr11:56372638-56372639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs61903268	chr11:56381067-56381068	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532664161	chr11:56381068-56381069	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs558738033	chr11:56381072-56381073	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs547611968	chr11:56381143-56381144	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs150454098	chr11:56381170-56381171	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs144076179	chr11:56381554-56381555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs576076146	chr11:56381576-56381577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183857443	chr11:56381611-56381612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs188277270	chr11:56381643-56381644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs532700194	chr11:56381674-56381675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs192975450	chr11:56381698-56381699	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs182820764	chr11:56381734-56381735	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs559525144	chr11:56381780-56381781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs530194689	chr11:56381783-56381784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12276247	chr11:56381809-56381810	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186871218	chr11:56381818-56381819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543678754	chr11:56387200-56387201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369778533	chr11:56387208-56387209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142606964	chr11:56387217-56387218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532527196	chr11:56387231-56387232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115009228	chr11:56387269-56387270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76114746	chr11:56387293-56387294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572139771	chr11:56387306-56387307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182552368	chr11:56387307-56387308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548308920	chr11:56387337-56387338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570007452	chr11:56387371-56387372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146000116	chr11:56387387-56387388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556458999	chr11:56387390-56387391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186879338	chr11:56387397-56387398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112408192	chr11:56387422-56387423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553912798	chr11:56387429-56387430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572076944	chr11:56387498-56387499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534288871	chr11:56387535-56387536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536308128	chr11:56387558-56387559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557757992	chr11:56387586-56387587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554287900	chr11:56387617-56387618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138775039	chr11:56387716-56387717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78876220	chr11:56387722-56387723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543321487	chr11:56387732-56387733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563283274	chr11:56387772-56387773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12418301	chr11:56387773-56387774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577118029	chr11:56387775-56387776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190601181	chr11:56387783-56387784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541291967	chr11:56387794-56387795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184095011	chr11:56387837-56387838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530158429	chr11:56387848-56387849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548619103	chr11:56387857-56387858	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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	19587683	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56387200-56388000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr11:56388000-56392200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:56391800-56392800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:56392000-56392600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr11:56392000-56392600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:56392000-56392800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:56392000-56392800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:56392200-56392600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:56392200-56392600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:56392200-56392800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:56392400-56392600	Flanking Active TSS	A549	lung
12	chr11:56392600-56392800	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links