Variant report

Variant	nsv1050431
Chromosome Location	chr11:55065048-55148163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:671)
Chromatin interactive
region (count:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55113744-55114010	IMR90	lung:	n/a	chr11:55113873-55113884
2	CEBPB	chr11:55113743-55114014	HepG2	liver:	n/a	chr11:55113873-55113884
3	CEBPB	chr11:55131841-55132160	HepG2	liver:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
4	CEBPB	chr11:55143436-55143619	A549	lung:	n/a	n/a
5	CEBPB	chr11:55131951-55132124	A549	lung:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
6	CTCF	chr11:55125165-55125305	HepG2	liver:	n/a	n/a
7	CTCF	chr11:55125180-55125330	NHEK	skin:	n/a	n/a
8	CTCF	chr11:55125130-55125388	LNCaP	prostate:	n/a	n/a
9	CTCF	chr11:55125186-55125313	GM12878	blood:	n/a	n/a
10	CTCF	chr11:55125140-55125290	HEK293	kidney:	n/a	n/a
11	CTCF	chr11:55125145-55125392	LNCaP	prostate:	n/a	n/a
12	CTCF	chr11:55125204-55125226	GM19238	blood:	n/a	n/a
13	CTCF	chr11:55125260-55125410	HCT-116	colon:	n/a	n/a
14	CTCF	chr11:55125173-55125273	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:55125057-55125415	GM12878	blood:	n/a	n/a
16	CTCF	chr11:55125166-55125347	K562	blood:	n/a	n/a
17	CTCF	chr11:55125065-55125413	K562	blood:	n/a	n/a
18	CTCF	chr11:55125169-55125321	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr11:55125146-55125400	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:55125068-55125430	A549	lung:	n/a	n/a
21	CTCF	chr11:55125152-55125355	HepG2	liver:	n/a	n/a
22	CTCF	chr11:55125140-55125290	GM12874	blood:	n/a	n/a
23	CTCF	chr11:55125040-55125059	GM13976	blood:	n/a	n/a
24	CTCF	chr11:55125140-55125290	GM12869	blood:	n/a	n/a
25	CTCF	chr11:55125121-55125385	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr11:55125040-55125190	HCT-116	colon:	n/a	n/a
27	CTCF	chr11:55125160-55125310	HepG2	liver:	n/a	n/a
28	CTCF	chr11:55125160-55125310	HL-60	blood:	n/a	n/a
29	CTCF	chr11:55125100-55125250	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr11:55125130-55125442	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:55125120-55125270	GM12868	blood:	n/a	n/a
32	CTCF	chr11:55125162-55125313	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:55125162-55125361	HepG2	liver:	n/a	n/a
34	CTCF	chr11:55125195-55125323	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr11:55125100-55125250	GM12873	blood:	n/a	n/a
36	CTCF	chr11:55125140-55125290	RPTEC	kidney:	n/a	n/a
37	CTCF	chr11:55125140-55125290	BE2_C	brain:	n/a	n/a
38	CTCF	chr11:55125120-55125270	GM06990	blood:	n/a	n/a
39	CTCF	chr11:55125140-55125290	NHEK	skin:	n/a	n/a
40	CTCF	chr11:55125100-55125250	GM12871	blood:	n/a	n/a
41	CTCF	chr11:55125100-55125250	GM12878	blood:	n/a	n/a
42	CTCF	chr11:55125140-55125290	GM12875	blood:	n/a	n/a
43	CTCF	chr11:55125117-55125451	K562	blood:	n/a	n/a
44	CTCF	chr11:55125180-55125330	A549	lung:	n/a	n/a
45	CTCF	chr11:55125120-55125270	GM12866	blood:	n/a	n/a
46	CTCF	chr11:55125100-55125250	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr11:55125183-55125254	Fibrobl	skin:	n/a	n/a
48	CTCF	chr11:55125180-55125330	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr11:55125107-55125446	K562	blood:	n/a	n/a
50	CTCF	chr11:55125257-55125280	GM13977	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55135222-55135272	HCF	heart:	n/a
2	chr11:55134268-55134318	PFSK-1	brain:	n/a
3	chr11:55110233-55110283	SKMC	muscle:	n/a
4	chr11:55110562-55110612	A549	lung:	n/a
5	chr11:55135337-55135387	HNPCEpiC	eye:	n/a
6	chr11:55135222-55135272	AG09309	skin:	n/a
7	chr11:55135046-55135096	HEEpiC	esophagus:	n/a
8	chr11:55135331-55135381	HCPEpiC	choroid plexus:	n/a
9	chr11:55110233-55110283	T-47D	breast:	n/a
10	chr11:55066025-55066075	PrEC	prostate:	n/a
11	chr11:55109885-55109935	HAEpiC	amniotic membrane:	n/a
12	chr11:55135331-55135381	HL-60	blood:	n/a
13	chr11:55110562-55110612	ProgFib	skin:	n/a
14	chr11:55134268-55134318	NT2-D1	testis:	n/a
15	chr11:55135337-55135387	HL-60	blood:	n/a
16	chr11:55134268-55134318	AG09319	gingival:	n/a
17	chr11:55110562-55110612	PFSK-1	brain:	n/a
18	chr11:55066025-55066075	A549	lung:	n/a
19	chr11:55066025-55066075	MCF-7	breast:	n/a
20	chr11:55135337-55135387	RPTEC	kidney:	n/a
21	chr11:55135331-55135381	LNCaP	prostate:	n/a
22	chr11:55134268-55134318	NH-A	brain:	n/a
23	chr11:55066025-55066075	HNPCEpiC	eye:	n/a
24	chr11:55111658-55111708	K562	blood:	n/a
25	chr11:55109885-55109935	BJ	skin:	n/a
26	chr11:55134268-55134318	HRCEpiC	kidney:	n/a
27	chr11:55135337-55135387	HMEC	breast:	n/a
28	chr11:55111658-55111708	PANC-1	pancreas:	n/a
29	chr11:55110233-55110283	MCF10A-Er-Src	breast:	n/a
30	chr11:55066025-55066075	AG04449	skin:	fetal
31	chr11:55135656-55135706	GM19239	blood:	n/a
32	chr11:55135331-55135381	U87	brain:	n/a
33	chr11:55135222-55135272	NB4	blood:	n/a
34	chr11:55110233-55110283	Caco-2	colon:	n/a
35	chr11:55066025-55066075	SK-N-SH	brain:	n/a
36	chr11:55135656-55135706	NT2-D1	testis:	n/a
37	chr11:55134268-55134318	PrEC	prostate:	n/a
38	chr11:55135337-55135387	PrEC	prostate:	n/a
39	chr11:55135222-55135272	RPTEC	kidney:	n/a
40	chr11:55109885-55109935	MCF-7	breast:	n/a
41	chr11:55135656-55135706	HUVEC	blood vessel:	n/a
42	chr11:55135046-55135096	HCF	heart:	n/a
43	chr11:55135656-55135706	T-47D	breast:	n/a
44	chr11:55111658-55111708	HEEpiC	esophagus:	n/a
45	chr11:55110233-55110283	PFSK-1	brain:	n/a
46	chr11:55109885-55109935	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:55066025-55066075	NB4	blood:	n/a
48	chr11:55135046-55135096	T-47D	breast:	n/a
49	chr11:55134268-55134318	HCT-116	colon:	n/a
50	chr11:55110562-55110612	HRCEpiC	kidney:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55087931..55090092-chr11:55095019..55097450,2	K562	blood:
2	chr11:55087931..55090092-chr11:55095019..55097450,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-2	chr11:55072505-55072536	NONHSAT021358
2	lnc-OR4C11-3	chr11:55065335-55065708	NR_038174
3	lnc-OR4C11-3	chr11:55064955-55065051	NR_038174
4	lnc-OR4C11-3	chr11:55064955-55065048	NONHSAT021357
5	lnc-OR4C11-3	chr11:55065334-55065439	NONHSAT021357
6	lnc-OR4C11-2	chr11:55069766-55070437	NONHSAT021358
7	lnc-OR4C11-2	chr11:55071537-55071634	NONHSAT021358

No data

Variant related genes	Relation type
OR4A11P	TF binding region
TRIM51HP	TF binding region
ENSG00000254828	TF binding region
OR4A12P	TF binding region
OR4A15	TF binding region
OR4A16	TF binding region
OR4A11P	CpG island
TRIM51HP	CpG island
ENSG00000254828	CpG island
OR4A12P	CpG island
OR4A15	CpG island
OR4A16	CpG island

Extended variants
information (count: 640 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550757044	chr11:55065336-55065337	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs569061194	chr11:55065337-55065338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs185019158	chr11:55065339-55065340	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs540653152	chr11:55065340-55065341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs369987966	chr11:55065367-55065368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs570473795	chr11:55065374-55065375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs534588935	chr11:55065381-55065382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs201823831	chr11:55065399-55065400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs4100284	chr11:55065401-55065402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs4100283	chr11:55065402-55065403	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs187437202	chr11:55065416-55065417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs192206866	chr11:55065419-55065420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs201223771	chr11:55065420-55065421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs1821465	chr11:55065479-55065480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs183915155	chr11:55065545-55065546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs188696127	chr11:55065557-55065558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs558206672	chr11:55065565-55065566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs573286436	chr11:55065581-55065582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs4100282	chr11:55065601-55065602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs55900934	chr11:55065607-55065608	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561985314	chr11:55065624-55065625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs529252164	chr11:55065640-55065641	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs563026015	chr11:55065657-55065658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs544461111	chr11:55065672-55065673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs180819361	chr11:55065675-55065676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs533320790	chr11:55065679-55065680	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs551715759	chr11:55065687-55065688	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs564192864	chr11:55065689-55065690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs11820783	chr11:55065690-55065691	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377299847	chr11:55065691-55065692	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs566505820	chr11:55066037-55066038	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs190440207	chr11:55066038-55066039	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs182371110	chr11:55066056-55066057	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs534957683	chr11:55066060-55066061	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs61896021	chr11:55066070-55066071	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550888739	chr11:55069769-55069770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs186864848	chr11:55069802-55069803	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs539600850	chr11:55069841-55069842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs557996490	chr11:55069873-55069874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs61896024	chr11:55069880-55069881	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192436075	chr11:55069882-55069883	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs145070618	chr11:55069899-55069900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs573696273	chr11:55069908-55069909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs184835781	chr11:55069945-55069946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs188930268	chr11:55069956-55069957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs376260028	chr11:55069961-55069962	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs193132524	chr11:55069967-55069968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs545556681	chr11:55069997-55069998	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs564042065	chr11:55069999-55070000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs528152651	chr11:55070001-55070002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	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
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	20369283	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55079600-55081200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:55083400-55083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:55110800-55112400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr11:55120800-55121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:55120800-55122200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:55121200-55121600	Enhancers	Brain Hippocampus Middle	brain
7	chr11:55124200-55124400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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