Variant report

Variant	nsv517440
Chromosome Location	chr11:55340379-55604412
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	chr11:55425450-55425874	GM12878	blood:	n/a	n/a
2	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
3	BATF	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
4	BATF	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:55425504-55425830	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:55427039-55427080	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:55425502-55426161	GM12878	blood:	n/a	n/a
9	CCNT2	chr11:55598241-55598440	K562	blood:	n/a	n/a
10	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
12	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
13	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
14	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
15	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
16	CEBPB	chr11:55484586-55484848	HepG2	liver:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
17	CEBPB	chr11:55531894-55532015	HepG2	liver:	n/a	n/a
18	CEBPB	chr11:55484570-55484826	K562	blood:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
19	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
20	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
21	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
22	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
23	CEBPB	chr11:55541048-55541310	A549	lung:	n/a	n/a
24	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
25	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
26	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
27	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
28	CEBPB	chr11:55535621-55535901	HepG2	liver:	n/a	chr11:55535727-55535738
29	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
30	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
31	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
32	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
33	CTCF	chr11:55482900-55483050	WERI-Rb-1	eye:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
34	CTCF	chr11:55482520-55482670	GM12866	blood:	n/a	n/a
35	CTCF	chr11:55494060-55494210	GM12865	blood:	n/a	n/a
36	CTCF	chr11:55494240-55494390	GM12864	blood:	n/a	n/a
37	CTCF	chr11:55474513-55474858	HCT-116	colon:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
38	CTCF	chr11:55482920-55483070	HCT-116	colon:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
39	CTCF	chr11:55482860-55483010	GM12865	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
40	CTCF	chr11:55474640-55474790	GM12866	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
41	CTCF	chr11:55474640-55474790	GM12873	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
42	CTCF	chr11:55494318-55494488	A549	lung:	n/a	n/a
43	CTCF	chr11:55474623-55474740	Lung_OC	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
44	CTCF	chr11:55474660-55474810	HBMEC	blood vessel:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
45	CTCF	chr11:55482860-55483010	K562	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
46	CTCF	chr11:55482860-55483010	HEK293	kidney:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
47	CTCF	chr11:55482560-55482710	GM12872	blood:	n/a	n/a
48	CTCF	chr11:55482840-55482990	HL-60	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
49	CTCF	chr11:55494260-55494410	GM12871	blood:	n/a	n/a
50	CTCF	chr11:55494260-55494410	HVMF	connective:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55593465-55593515	NHDF-neo	bronchial:	n/a
2	chr11:55594854-55594904	Caco-2	colon:	n/a
3	chr11:55593465-55593515	NHDF-neo	bronchial:	n/a
4	chr11:55594854-55594904	Caco-2	colon:	n/a
5	chr11:55406191-55406241	PrEC	prostate:	n/a
6	chr11:55563401-55563451	HAEpiC	amniotic membrane:	n/a
7	chr11:55406191-55406241	HEK293	kidney:	embryo
8	chr11:55433005-55433055	SK-N-SH	brain:	n/a
9	chr11:55587764-55587814	MCF-7	breast:	n/a
10	chr11:55594854-55594904	SAEC	small airway:	n/a
11	chr11:55541018-55541068	NB4	blood:	n/a
12	chr11:55563401-55563451	SK-N-SH_RA	brain:	n/a
13	chr11:55577775-55577825	SK-N-SH_RA	brain:	n/a
14	chr11:55563401-55563451	ECC-1	luminal epithelium:	n/a
15	chr11:55586293-55586343	MCF10A-Er-Src	breast:	n/a
16	chr11:55579363-55579413	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:55593465-55593515	ECC-1	luminal epithelium:	n/a
18	chr11:55563401-55563451	K562	blood:	n/a
19	chr11:55417018-55417068	BJ	skin:	n/a
20	chr11:55418816-55418866	NH-A	brain:	n/a
21	chr11:55587104-55587154	AG04450	lung:	fetal
22	chr11:55431584-55431634	HNPCEpiC	eye:	n/a
23	chr11:55541018-55541068	HUVEC	blood vessel:	n/a
24	chr11:55586293-55586343	AoSMC	blood vessel:	n/a
25	chr11:55431152-55431202	MCF10A-Er-Src	breast:	n/a
26	chr11:55577775-55577825	Caco-2	colon:	n/a
27	chr11:55541269-55541319	HCPEpiC	choroid plexus:	n/a
28	chr11:55417018-55417068	GM12892	blood:	n/a
29	chr11:55433005-55433055	U87	brain:	n/a
30	chr11:55371077-55371127	HRCEpiC	kidney:	n/a
31	chr11:55563401-55563451	NHBE	bronchial:	n/a
32	chr11:55594854-55594904	Hela-S3	cervix:	n/a
33	chr11:55433005-55433055	K562	blood:	n/a
34	chr11:55586264-55586314	Jurkat	blood:	n/a
35	chr11:55541269-55541319	HAEpiC	amniotic membrane:	n/a
36	chr11:55417018-55417068	PFSK-1	brain:	n/a
37	chr11:55418816-55418866	HNPCEpiC	eye:	n/a
38	chr11:55579363-55579413	SK-N-SH_RA	brain:	n/a
39	chr11:55433005-55433055	SK-N-MC	brain:	n/a
40	chr11:55541269-55541319	HRCEpiC	kidney:	n/a
41	chr11:55594854-55594904	HCF	heart:	n/a
42	chr11:55563401-55563451	ovcar-3	ovarian:	n/a
43	chr11:55541269-55541319	SK-N-MC	brain:	n/a
44	chr11:55577775-55577825	HRCEpiC	kidney:	n/a
45	chr11:55587764-55587814	GM12878	blood:	n/a
46	chr11:55587104-55587154	PANC-1	pancreas:	n/a
47	chr11:55417018-55417068	LNCaP	prostate:	n/a
48	chr11:55406191-55406241	ovcar-3	ovarian:	n/a
49	chr11:55587764-55587814	GM06990	blood:	n/a
50	chr11:55431152-55431202	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55491735..55492235-chr19:6736783..6737284,2	NB4	blood:
2	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
3	chr11:55599784..55601500-chr11:55669222..55671222,2	K562	blood:
4	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
5	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
6	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-1	chr11:55451617-55451701	ENSG00000254804
2	lnc-OR4C11-1	chr11:55453377-55453636	ENSG00000254804

Variant related genes	Relation type
OR4S2	TF binding region
OR5D13	TF binding region
OR5D15P	TF binding region
OR4P4	TF binding region
OR5D17P	TF binding region
OR5D14	TF binding region
OR4C6	TF binding region
ENSG00000254804	TF binding region
OR4C11	TF binding region
OR5L1	TF binding region
OR5L2	TF binding region
OR5D2P	TF binding region
OR5D18	TF binding region
OR5D16	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR5D3P	TF binding region
OR4S2	CpG island
OR5D13	CpG island
OR5D15P	CpG island
OR4P4	CpG island
OR5D17P	CpG island
OR5D14	CpG island
OR4C6	CpG island
ENSG00000254804	CpG island
OR4C11	CpG island
OR5L1	CpG island
OR5L2	CpG island
OR5D2P	CpG island
OR5D18	CpG island
OR5D16	CpG island
OR4V1P	CpG island
OR4P1P	CpG island
OR5D3P	CpG island
ENSG00000125734	chromatin interactions

Extended variants
information (count: 1126 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1126 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559449	chr11:55340379-55340380	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577913963	chr11:55340382-55340383	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs375892030	chr11:55340386-55340387	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs141913559	chr11:55340387-55340388	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs201403887	chr11:55340392-55340393	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs537719956	chr11:55340393-55340394	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs552504733	chr11:55353815-55353816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141207036	chr11:55353833-55353834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571075901	chr11:55353837-55353838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs56295433	chr11:55353843-55353844	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540880	chr11:55353866-55353867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113513006	chr11:55353878-55353879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568446054	chr11:55353879-55353880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs187415161	chr11:55353939-55353940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557483587	chr11:55353953-55353954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs11604257	chr11:55353966-55353967	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs56292460	chr11:55353977-55353978	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558494873	chr11:55354000-55354001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577034713	chr11:55354004-55354005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144471256	chr11:55354027-55354028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547759424	chr11:55354029-55354030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146972485	chr11:55354031-55354032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs570863945	chr11:55354049-55354050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531107424	chr11:55354062-55354063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs78161604	chr11:55354089-55354090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs574091887	chr11:55354106-55354107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs61895192	chr11:55354108-55354109	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371836360	chr11:55354109-55354110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556358901	chr11:55354150-55354151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs57556042	chr11:55354157-55354158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs138825282	chr11:55354158-55354159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570042806	chr11:55354173-55354174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs192161599	chr11:55354179-55354180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs564538308	chr11:55354206-55354207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184583804	chr11:55354213-55354214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368660976	chr11:55354217-55354218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs547313137	chr11:55354218-55354219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190004044	chr11:55354222-55354223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs180836468	chr11:55354229-55354230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs660341	chr11:55354230-55354231	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61895193	chr11:55354239-55354240	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149368166	chr11:55354271-55354272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs551885696	chr11:55354350-55354351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs533507481	chr11:55354376-55354377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570290895	chr11:55354384-55354385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs11822906	chr11:55354389-55354390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552838586	chr11:55354395-55354396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs372177320	chr11:55354399-55354400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555835004	chr11:55354410-55354411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs11602723	chr11:55354417-55354418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55340200-55340400	Bivalent Enhancer	Aorta	Aorta
2	chr11:55353800-55354600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:55366800-55367200	ZNF genes & repeats	Esophagus	oesophagus
4	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
6	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
7	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
8	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
10	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
11	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
12	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:55508400-55508600	Enhancers	Esophagus	oesophagus
17	chr11:55508400-55508600	ZNF genes & repeats	Pancreas	Pancrea
18	chr11:55545600-55547200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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