Variant report

Variant	nsv975341
Chromosome Location	chr11:56381903-56407581
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	chr11:56392115-56392370	K562	blood:	n/a	n/a
2	ARID3A	chr11:56392054-56392405	HepG2	liver:	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	chr11:56392069-56392469	GM12878	blood:	n/a	chr11:56392263-56392274 chr11:56392281-56392292
7	BATF	chr11:56392134-56392479	GM12878	blood:	n/a	chr11:56392263-56392274 chr11:56392281-56392292
8	BCL11A	chr11:56392083-56392500	GM12878	blood:	n/a	n/a
9	BCL11A	chr11:56392145-56392429	GM12878	blood:	n/a	n/a
10	CEBPB	chr11:56399444-56399543	K562	blood:	n/a	chr11:56399532-56399543
11	CEBPB	chr11:56399395-56399656	A549	lung:	n/a	chr11:56399532-56399543
12	CEBPB	chr11:56399354-56399655	HepG2	liver:	n/a	chr11:56399532-56399543
13	CEBPB	chr11:56399397-56399674	IMR90	lung:	n/a	chr11:56399532-56399543
14	CTCF	chr11:56392085-56392370	A549	lung:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
15	CTCF	chr11:56392060-56392210	NHEK	skin:	n/a	n/a
16	CTCF	chr11:56392133-56392303	HUVEC	blood vessel:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
17	CTCF	chr11:56392200-56392350	GM12878	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
18	CTCF	chr11:56392038-56392418	GM12878	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
19	CTCF	chr11:56392153-56392311	Kidney_OC	kidney:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
20	CTCF	chr11:56400240-56400390	HepG2	liver:	n/a	n/a
21	CTCF	chr11:56392120-56392270	SAEC	small airway:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
22	CTCF	chr11:56391740-56391890	RPTEC	kidney:	n/a	n/a
23	CTCF	chr11:56392140-56392290	GM12872	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
24	CTCF	chr11:56392100-56392250	GM12873	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
25	CTCF	chr11:56392120-56392270	HPAF	blood vessel:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
26	CTCF	chr11:56392060-56392210	HCM	heart:	n/a	n/a
27	CTCF	chr11:56392120-56392270	AoAF	blood vessel:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
28	CTCF	chr11:56392140-56392290	NB4	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
29	CTCF	chr11:56392152-56392266	Lung_OC	lung:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
30	CTCF	chr11:56392200-56392350	HVMF	connective:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
31	CTCF	chr11:56392135-56392305	GM13977	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
32	CTCF	chr11:56391985-56392441	A549	lung:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
33	CTCF	chr11:56392160-56392310	HPF	lung:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
34	CTCF	chr11:56392138-56392281	Hela-S3	cervix:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
35	CTCF	chr11:56392225-56392240	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:56392120-56392270	GM12872	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
37	CTCF	chr11:56392100-56392250	HBMEC	blood vessel:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
38	CTCF	chr11:56392080-56392230	AG09309	skin:	n/a	chr11:56392209-56392227
39	CTCF	chr11:56392040-56392190	A549	lung:	n/a	n/a
40	CTCF	chr11:56392140-56392290	GM12873	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
41	CTCF	chr11:56392100-56392250	GM12864	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
42	CTCF	chr11:56392137-56392326	SK-N-SH_RA	brain:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
43	CTCF	chr11:56392193-56392216	GM10248	blood:	n/a	n/a
44	CTCF	chr11:56392140-56392290	HPAF	blood vessel:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
45	CTCF	chr11:56392160-56392310	HepG2	liver:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
46	CTCF	chr11:56392140-56392290	Caco-2	colon:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
47	CTCF	chr11:56392140-56392290	AG09319	gingival:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
48	CTCF	chr11:56392160-56392310	AG09309	skin:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
49	CTCF	chr11:56392140-56392290	GM12867	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
50	CTCF	chr11:56392160-56392310	HRE	kidney:	n/a	chr11:56392209-56392227 chr11:56392211-56392232

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56392848-56392898	AG04449	skin:	fetal
2	chr11:56392848-56392898	K562	blood:	n/a
3	chr11:56392848-56392898	HMEC	breast:	n/a
4	chr11:56392848-56392898	BJ	skin:	n/a
5	chr11:56392848-56392898	ECC-1	luminal epithelium:	n/a
6	chr11:56392848-56392898	AG04450	lung:	fetal
7	chr11:56392848-56392898	U87	brain:	n/a
8	chr11:56392848-56392898	NB4	blood:	n/a
9	chr11:56392848-56392898	MCF-7	breast:	n/a
10	chr11:56392848-56392898	HepG2	liver:	n/a
11	chr11:56392848-56392898	HUVEC	blood vessel:	n/a
12	chr11:56392848-56392898	AG10803	skin:	n/a
13	chr11:56392848-56392898	ovcar-3	ovarian:	n/a
14	chr11:56392848-56392898	CMK	blood:	n/a
15	chr11:56392848-56392898	A549	lung:	n/a
16	chr11:56392848-56392898	PrEC	prostate:	n/a
17	chr11:56392848-56392898	GM19239	blood:	n/a
18	chr11:56392848-56392898	Hela-S3	cervix:	n/a
19	chr11:56392848-56392898	SK-N-MC	brain:	n/a
20	chr11:56392848-56392898	HIPEpiC	eye:	n/a
21	chr11:56392848-56392898	GM12892	blood:	n/a
22	chr11:56392848-56392898	HCF	heart:	n/a
23	chr11:56392848-56392898	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:56392848-56392898	HEK293	kidney:	embryo
25	chr11:56392848-56392898	HEEpiC	esophagus:	n/a
26	chr11:56392848-56392898	AoSMC	blood vessel:	n/a
27	chr11:56392848-56392898	HCPEpiC	choroid plexus:	n/a
28	chr11:56392848-56392898	HRCEpiC	kidney:	n/a
29	chr11:56392848-56392898	PFSK-1	brain:	n/a
30	chr11:56392848-56392898	Hepatocyte	liver:	n/a
31	chr11:56392848-56392898	HRPEpiC	eye:	n/a
32	chr11:56392848-56392898	HCM	heart:	n/a
33	chr11:56392848-56392898	SKMC	muscle:	n/a
34	chr11:56392848-56392898	HCT-116	colon:	n/a
35	chr11:56392848-56392898	HNPCEpiC	eye:	n/a
36	chr11:56392848-56392898	NT2-D1	testis:	n/a
37	chr11:56392848-56392898	GM12891	blood:	n/a
38	chr11:56392848-56392898	MCF10A-Er-Src	breast:	n/a
39	chr11:56392848-56392898	AG09309	skin:	n/a
40	chr11:56392848-56392898	BE2_C	brain:	n/a
41	chr11:56392848-56392898	NHDF-neo	bronchial:	n/a
42	chr11:56392848-56392898	GM12878	blood:	n/a
43	chr11:56392848-56392898	SAEC	small airway:	n/a
44	chr11:56392848-56392898	Jurkat	blood:	n/a
45	chr11:56392848-56392898	HRE	kidney:	n/a
46	chr11:56392848-56392898	LNCaP	prostate:	n/a
47	chr11:56392848-56392898	PANC-1	pancreas:	n/a
48	chr11:56392848-56392898	GM06990	blood:	n/a
49	chr11:56392848-56392898	AG09319	gingival:	n/a
50	chr11:56392848-56392898	H1-hESC	embryonic stem cell:	embryo

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	chr11:56399649-56402130	ucscGeneNc_uc001njj_1

Variant related genes	Relation type
OR5AM1P	TF binding region
ENSG00000263546	TF binding region
OR5M12P	TF binding region
OR5M1	TF binding region
OR5AP1P	TF binding region
OR5AM1P	CpG island
ENSG00000263546	CpG island
OR5M12P	CpG island
OR5M1	CpG island
OR5AP1P	CpG island

Extended variants
information (count: 376 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543678754	chr11:56387200-56387201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369778533	chr11:56387208-56387209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142606964	chr11:56387217-56387218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532527196	chr11:56387231-56387232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115009228	chr11:56387269-56387270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76114746	chr11:56387293-56387294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572139771	chr11:56387306-56387307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182552368	chr11:56387307-56387308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548308920	chr11:56387337-56387338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570007452	chr11:56387371-56387372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146000116	chr11:56387387-56387388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556458999	chr11:56387390-56387391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186879338	chr11:56387397-56387398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112408192	chr11:56387422-56387423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553912798	chr11:56387429-56387430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572076944	chr11:56387498-56387499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534288871	chr11:56387535-56387536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536308128	chr11:56387558-56387559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557757992	chr11:56387586-56387587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554287900	chr11:56387617-56387618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138775039	chr11:56387716-56387717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78876220	chr11:56387722-56387723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543321487	chr11:56387732-56387733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563283274	chr11:56387772-56387773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12418301	chr11:56387773-56387774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577118029	chr11:56387775-56387776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190601181	chr11:56387783-56387784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541291967	chr11:56387794-56387795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184095011	chr11:56387837-56387838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530158429	chr11:56387848-56387849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548619103	chr11:56387857-56387858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563682673	chr11:56387863-56387864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116955636	chr11:56387870-56387871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534600617	chr11:56387871-56387872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397778118	chr11:56387882-56387883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117283931	chr11:56387896-56387897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2852419	chr11:56387897-56387898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562022466	chr11:56387929-56387930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553079590	chr11:56387964-56387965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571597257	chr11:56388021-56388022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188945324	chr11:56388023-56388024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547286794	chr11:56388033-56388034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11228683	chr11:56388048-56388049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs193252596	chr11:56388111-56388112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554607741	chr11:56388171-56388172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149320395	chr11:56388173-56388174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547444993	chr11:56388174-56388175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184444881	chr11:56388178-56388179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577136120	chr11:56388187-56388188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75435971	chr11:56388192-56388193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	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