Variant report

Variant	nsv554994
Chromosome Location	chr11:55397636-55503621
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	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
3	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
4	BATF	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:55425504-55425830	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	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
11	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
12	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
13	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
14	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
15	CEBPB	chr11:55484570-55484826	K562	blood:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
16	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
17	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
18	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
19	CEBPB	chr11:55484586-55484848	HepG2	liver:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
20	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
21	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
22	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
23	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
24	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
25	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
26	CTCF	chr11:55482620-55482770	GM06990	blood:	n/a	n/a
27	CTCF	chr11:55494395-55494527	ProgFib	skin:	n/a	n/a
28	CTCF	chr11:55482860-55483010	AG09309	skin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
29	CTCF	chr11:55494300-55494450	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr11:55474631-55474802	Pancreas_OC	pancreas:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
31	CTCF	chr11:55474600-55474750	Hela-S3	cervix:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
32	CTCF	chr11:55474580-55474730	K562	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
33	CTCF	chr11:55494318-55494488	A549	lung:	n/a	n/a
34	CTCF	chr11:55494249-55494483	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr11:55474600-55474750	AG04449	skin:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
36	CTCF	chr11:55494279-55494491	LNCaP	prostate:	n/a	n/a
37	CTCF	chr11:55482880-55483030	HFF	foreskin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
38	CTCF	chr11:55482834-55483043	HepG2	liver:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
39	CTCF	chr11:55474620-55474770	HCT-116	colon:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
40	CTCF	chr11:55482849-55483070	A549	lung:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
41	CTCF	chr11:55494240-55494390	GM12864	blood:	n/a	n/a
42	CTCF	chr11:55470140-55470290	AG10803	skin:	n/a	n/a
43	CTCF	chr11:55494260-55494410	GM12869	blood:	n/a	n/a
44	CTCF	chr11:55474593-55474801	Hela-S3	cervix:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
45	CTCF	chr11:55494260-55494410	GM06990	blood:	n/a	n/a
46	CTCF	chr11:55482920-55483070	GM12864	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
47	CTCF	chr11:55482863-55483051	HepG2	liver:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
48	CTCF	chr11:55474520-55474670	HRE	kidney:	n/a	n/a
49	CTCF	chr11:55482854-55483105	HepG2	liver:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
50	CTCF	chr11:55494356-55494455	Fibrobl	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55431152-55431202	Jurkat	blood:	n/a
2	chr11:55431584-55431634	GM12878	blood:	n/a
3	chr11:55431152-55431202	HMEC	breast:	n/a
4	chr11:55417018-55417068	T-47D	breast:	n/a
5	chr11:55406191-55406241	AG04449	skin:	fetal
6	chr11:55417018-55417068	ovcar-3	ovarian:	n/a
7	chr11:55431152-55431202	K562	blood:	n/a
8	chr11:55433005-55433055	HL-60	blood:	n/a
9	chr11:55431584-55431634	GM06990	blood:	n/a
10	chr11:55418816-55418866	BJ	skin:	n/a
11	chr11:55433005-55433055	K562	blood:	n/a
12	chr11:55417018-55417068	AG09309	skin:	n/a
13	chr11:55431152-55431202	HEK293	kidney:	embryo
14	chr11:55431584-55431634	PANC-1	pancreas:	n/a
15	chr11:55406191-55406241	GM06990	blood:	n/a
16	chr11:55431152-55431202	H1-hESC	embryonic stem cell:	embryo
17	chr11:55433005-55433055	NHDF-neo	bronchial:	n/a
18	chr11:55417018-55417068	GM12891	blood:	n/a
19	chr11:55406191-55406241	Hepatocyte	liver:	n/a
20	chr11:55418816-55418866	BE2_C	brain:	n/a
21	chr11:55418816-55418866	HCM	heart:	n/a
22	chr11:55418816-55418866	GM06990	blood:	n/a
23	chr11:55433005-55433055	AG09319	gingival:	n/a
24	chr11:55418816-55418866	HRE	kidney:	n/a
25	chr11:55406191-55406241	A549	lung:	n/a
26	chr11:55433005-55433055	SK-N-MC	brain:	n/a
27	chr11:55418816-55418866	IMR90	lung:	fetal
28	chr11:55417018-55417068	BJ	skin:	n/a
29	chr11:55431152-55431202	ProgFib	skin:	n/a
30	chr11:55406191-55406241	MCF-7	breast:	n/a
31	chr11:55431584-55431634	Jurkat	blood:	n/a
32	chr11:55417018-55417068	HCF	heart:	n/a
33	chr11:55418816-55418866	GM19239	blood:	n/a
34	chr11:55431152-55431202	GM12891	blood:	n/a
35	chr11:55433005-55433055	GM12891	blood:	n/a
36	chr11:55431152-55431202	PANC-1	pancreas:	n/a
37	chr11:55431152-55431202	HL-60	blood:	n/a
38	chr11:55418816-55418866	U87	brain:	n/a
39	chr11:55406191-55406241	H1-hESC	embryonic stem cell:	embryo
40	chr11:55417018-55417068	AG10803	skin:	n/a
41	chr11:55418816-55418866	SAEC	small airway:	n/a
42	chr11:55431584-55431634	H1-hESC	embryonic stem cell:	embryo
43	chr11:55431152-55431202	GM12892	blood:	n/a
44	chr11:55431584-55431634	HMEC	breast:	n/a
45	chr11:55406191-55406241	HepG2	liver:	n/a
46	chr11:55431584-55431634	MCF10A-Er-Src	breast:	n/a
47	chr11:55433005-55433055	ovcar-3	ovarian:	n/a
48	chr11:55406191-55406241	GM12892	blood:	n/a
49	chr11:55431584-55431634	HRE	kidney:	n/a
50	chr11:55418816-55418866	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55491735..55492235-chr19:6736783..6737284,2	NB4	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
OR4P4	TF binding region
OR4C6	TF binding region
ENSG00000254804	TF binding region
OR5D2P	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR5D3P	TF binding region
OR4S2	CpG island
OR4P4	CpG island
OR4C6	CpG island
ENSG00000254804	CpG island
OR5D2P	CpG island
OR4V1P	CpG island
OR4P1P	CpG island
OR5D3P	CpG island
ENSG00000125734	chromatin interactions

Extended variants
information (count: 754 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555503414	chr11:55401421-55401422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs573521049	chr11:55401514-55401515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs560585185	chr11:55401524-55401525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111567983	chr11:55401558-55401559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs536561675	chr11:55404030-55404031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs572111038	chr11:55404047-55404048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs377569299	chr11:55404061-55404062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs17146842	chr11:55404136-55404137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115186894	chr11:55404159-55404160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs80300905	chr11:55404178-55404179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs558667086	chr11:55404194-55404195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs576910983	chr11:55404210-55404211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs17146846	chr11:55404214-55404215	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114132702	chr11:55404221-55404222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs34197808	chr11:55404235-55404236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs145047085	chr11:55404236-55404237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs149112146	chr11:55404254-55404255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563668510	chr11:55404262-55404263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs73469491	chr11:55411803-55411804	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530448832	chr11:55411817-55411818	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200474864	chr11:55411840-55411841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs377641869	chr11:55411841-55411842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561831332	chr11:55411869-55411870	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs114901634	chr11:55411879-55411880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370809397	chr11:55411896-55411897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570492310	chr11:55411928-55411929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534885965	chr11:55411933-55411934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553153778	chr11:55412011-55412012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386753678	chr11:55412017-55412018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111800739	chr11:55412018-55412019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568381122	chr11:55412019-55412020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535768443	chr11:55412082-55412083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369758188	chr11:55412178-55412179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111546348	chr11:55412227-55412228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140417170	chr11:55412277-55412278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192380508	chr11:55412328-55412329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184715068	chr11:55412337-55412338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573262446	chr11:55412345-55412346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541188529	chr11:55412396-55412397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142749326	chr11:55412425-55412426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12804020	chr11:55412494-55412495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374765452	chr11:55412497-55412498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542121895	chr11:55412501-55412502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74588052	chr11:55412569-55412570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541363832	chr11:55412574-55412575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140972137	chr11:55412649-55412650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551932161	chr11:55412707-55412708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190079701	chr11:55412769-55412770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150226484	chr11:55412780-55412781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76900382	chr11:55412795-55412796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
2	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
3	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
4	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
6	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
7	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
8	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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