Variant report

Variant	nsv1054262
Chromosome Location	chr11:55030215-55146638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:915)
Chromatin interactive
region (count:2)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:55050184-55050482	GM12878	blood:	n/a	chr11:55050282-55050292
2	BATF	chr11:55050155-55050460	GM12878	blood:	n/a	chr11:55050282-55050292
3	BATF	chr11:55056701-55057020	GM12878	blood:	n/a	n/a
4	CEBPB	chr11:55143436-55143619	A549	lung:	n/a	n/a
5	CEBPB	chr11:55113744-55114010	IMR90	lung:	n/a	chr11:55113873-55113884
6	CEBPB	chr11:55113743-55114014	HepG2	liver:	n/a	chr11:55113873-55113884
7	CEBPB	chr11:55131841-55132160	HepG2	liver:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
8	CEBPB	chr11:55131951-55132124	A549	lung:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
9	CTCF	chr11:55125180-55125330	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr11:55125260-55125410	HCT-116	colon:	n/a	n/a
11	CTCF	chr11:55125200-55125350	GM06990	blood:	n/a	n/a
12	CTCF	chr11:55125175-55125313	GM20000	blood:	n/a	n/a
13	CTCF	chr11:55054827-55054891	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr11:55125133-55125357	Gliobla	brain:	n/a	n/a
15	CTCF	chr11:55125126-55125378	T-47D	breast:	n/a	n/a
16	CTCF	chr11:55125120-55125270	GM12874	blood:	n/a	n/a
17	CTCF	chr11:55125100-55125250	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr11:55125100-55125250	GM12873	blood:	n/a	n/a
19	CTCF	chr11:55045286-55045346	GM10266	blood:	n/a	n/a
20	CTCF	chr11:55125180-55125330	NHEK	skin:	n/a	n/a
21	CTCF	chr11:55125140-55125290	GM12871	blood:	n/a	n/a
22	CTCF	chr11:55125120-55125270	K562	blood:	n/a	n/a
23	CTCF	chr11:55125100-55125250	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:55125140-55125290	GM12869	blood:	n/a	n/a
25	CTCF	chr11:55125169-55125257	A549	lung:	n/a	n/a
26	CTCF	chr11:55125140-55125290	GM12864	blood:	n/a	n/a
27	CTCF	chr11:55125180-55125330	A549	lung:	n/a	n/a
28	CTCF	chr11:55125059-55125373	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr11:55125107-55125446	K562	blood:	n/a	n/a
30	CTCF	chr11:55125220-55125370	Caco-2	colon:	n/a	n/a
31	CTCF	chr11:55044414-55044450	GM20000	blood:	n/a	n/a
32	CTCF	chr11:55125160-55125310	Caco-2	colon:	n/a	n/a
33	CTCF	chr11:55036086-55036167	GM20000	blood:	n/a	n/a
34	CTCF	chr11:55125101-55125460	HCT-116	colon:	n/a	n/a
35	CTCF	chr11:55125096-55125388	A549	lung:	n/a	n/a
36	CTCF	chr11:55125101-55125454	T-47D	breast:	n/a	n/a
37	CTCF	chr11:55043807-55043842	GM10248	blood:	n/a	n/a
38	CTCF	chr11:55125065-55125413	K562	blood:	n/a	n/a
39	CTCF	chr11:55125173-55125273	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:55125204-55125226	GM19238	blood:	n/a	n/a
41	CTCF	chr11:55125140-55125290	GM12875	blood:	n/a	n/a
42	CTCF	chr11:55124919-55125610	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr11:55125120-55125270	GM12866	blood:	n/a	n/a
44	CTCF	chr11:55125186-55125313	GM12878	blood:	n/a	n/a
45	CTCF	chr11:55125165-55125305	HepG2	liver:	n/a	n/a
46	CTCF	chr11:55043318-55043393	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr11:55054826-55054887	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr11:55125100-55125250	GM12871	blood:	n/a	n/a
49	CTCF	chr11:55137360-55137510	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr11:55037779-55037846	GM10248	blood:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55135656-55135706	PFSK-1	brain:	n/a
2	chr11:55135331-55135381	U87	brain:	n/a
3	chr11:55110233-55110283	NHDF-neo	bronchial:	n/a
4	chr11:55111658-55111708	HIPEpiC	eye:	n/a
5	chr11:55135337-55135387	SK-N-MC	brain:	n/a
6	chr11:55041873-55041923	ProgFib	skin:	n/a
7	chr11:55044082-55044132	CMK	blood:	n/a
8	chr11:55066025-55066075	AG09319	gingival:	n/a
9	chr11:55135222-55135272	SK-N-MC	brain:	n/a
10	chr11:55135046-55135096	SK-N-SH	brain:	n/a
11	chr11:55135046-55135096	PANC-1	pancreas:	n/a
12	chr11:55135337-55135387	HL-60	blood:	n/a
13	chr11:55135046-55135096	HCPEpiC	choroid plexus:	n/a
14	chr11:55110562-55110612	H1-hESC	embryonic stem cell:	embryo
15	chr11:55044220-55044270	HRE	kidney:	n/a
16	chr11:55044220-55044270	Hepatocyte	liver:	n/a
17	chr11:55135222-55135272	HCM	heart:	n/a
18	chr11:55110562-55110612	HL-60	blood:	n/a
19	chr11:55066025-55066075	SK-N-SH_RA	brain:	n/a
20	chr11:55044145-55044195	AG04449	skin:	fetal
21	chr11:55110562-55110612	HRE	kidney:	n/a
22	chr11:55044220-55044270	HEEpiC	esophagus:	n/a
23	chr11:55135222-55135272	ProgFib	skin:	n/a
24	chr11:55066025-55066075	HCM	heart:	n/a
25	chr11:55135046-55135096	AoSMC	blood vessel:	n/a
26	chr11:55066025-55066075	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:55135337-55135387	Jurkat	blood:	n/a
28	chr11:55135337-55135387	LNCaP	prostate:	n/a
29	chr11:55135337-55135387	IMR90	lung:	fetal
30	chr11:55044220-55044270	LNCaP	prostate:	n/a
31	chr11:55111658-55111708	IMR90	lung:	fetal
32	chr11:55135656-55135706	PANC-1	pancreas:	n/a
33	chr11:55135046-55135096	A549	lung:	n/a
34	chr11:55110233-55110283	AG09309	skin:	n/a
35	chr11:55135337-55135387	ProgFib	skin:	n/a
36	chr11:55135331-55135381	GM19239	blood:	n/a
37	chr11:55044145-55044195	SK-N-SH	brain:	n/a
38	chr11:55135331-55135381	ProgFib	skin:	n/a
39	chr11:55135046-55135096	SAEC	small airway:	n/a
40	chr11:55110233-55110283	PrEC	prostate:	n/a
41	chr11:55044145-55044195	AG09319	gingival:	n/a
42	chr11:55135331-55135381	HUVEC	blood vessel:	n/a
43	chr11:55044082-55044132	ECC-1	luminal epithelium:	n/a
44	chr11:55110562-55110612	SK-N-SH_RA	brain:	n/a
45	chr11:55135656-55135706	HCF	heart:	n/a
46	chr11:55066025-55066075	ovcar-3	ovarian:	n/a
47	chr11:55135656-55135706	HRE	kidney:	n/a
48	chr11:55134268-55134318	HCF	heart:	n/a
49	chr11:55134268-55134318	BE2_C	brain:	n/a
50	chr11:55041873-55041923	GM12892	blood:	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:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-4	chr11:55052545-55052560	NONHSAT021356
2	lnc-OR4C11-3	chr11:55061180-55061232	NONHSAT021357
3	lnc-OR4C11-3	chr11:55062198-55062220	NR_038174
4	lnc-OR4C11-2	chr11:55069766-55070437	NONHSAT021358
5	lnc-OR4C11-3	chr11:55065335-55065708	NR_038174
6	lnc-OR4C11-3	chr11:55064955-55065051	NR_038174
7	lnc-OR4C11-2	chr11:55072505-55072536	NONHSAT021358
8	lnc-TRIM48-2	chr11:55049978-55050453	NONHSAT021355
9	lnc-OR4C11-2	chr11:55071537-55071634	NONHSAT021358
10	lnc-OR4C11-4	chr11:55052405-55052415	NONHSAT021356
11	lnc-OR4A16-3	chr11:55034884-55035112	NONHSAT021352
12	lnc-OR4C11-3	chr11:55062198-55062220	NONHSAT021357
13	lnc-OR4C11-3	chr11:55065334-55065439	NONHSAT021357
14	lnc-OR4C11-3	chr11:55062708-55063166	NR_038174
15	lnc-OR4C11-3	chr11:55064955-55065048	NONHSAT021357
16	lnc-OR4C11-4	chr11:55052131-55052225	NONHSAT021353
17	lnc-OR4C11-3	chr11:55061179-55061232	NR_038174
18	lnc-OR4C11-4	chr11:55052134-55052227	NONHSAT021356
19	lnc-TRIM48-1	chr11:55047425-55047765	NONHSAT021354
20	lnc-OR4C11-4	chr11:55050561-55050681	NONHSAT021353
21	lnc-OR4C11-4	chr11:55047367-55047617	NONHSAT021353
22	lnc-OR4C11-3	chr11:55062708-55063166	NONHSAT021357
23	lnc-OR4C11-4	chr11:55046923-55047254	NONHSAT021353
24	lnc-OR4C11-4	chr11:55052911-55052999	NONHSAT021356

No data

Variant related genes	Relation type
OR4A11P	TF binding region
ENSG00000254696	TF binding region
ENSG00000255543	TF binding region
TRIM51HP	TF binding region
ENSG00000254828	TF binding region
OR4A16	TF binding region
ENSG00000255283	TF binding region
OR4A12P	TF binding region
OR4A15	TF binding region
ENSG00000255110	TF binding region
OR4A11P	CpG island
ENSG00000254696	CpG island
ENSG00000255543	CpG island
TRIM51HP	CpG island
ENSG00000254828	CpG island
OR4A16	CpG island
ENSG00000255283	CpG island
OR4A12P	CpG island
OR4A15	CpG island
ENSG00000255110	CpG island

Extended variants
information (count: 1220 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11228904	chr11:55030215-55030216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554906307	chr11:55030222-55030223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117303540	chr11:55030227-55030228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6591332	chr11:55030270-55030271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs558994934	chr11:55030284-55030285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577313000	chr11:55030289-55030290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199689545	chr11:55030291-55030292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34905586	chr11:55030293-55030294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386373828	chr11:55030296-55030297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375897022	chr11:55030297-55030298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs33973786	chr11:55030298-55030299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181073028	chr11:55030314-55030315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185558992	chr11:55030322-55030323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530913820	chr11:55030377-55030378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553050253	chr11:55030382-55030383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574494716	chr11:55030385-55030386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542088063	chr11:55030389-55030390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375703372	chr11:55030396-55030397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563652535	chr11:55030413-55030414	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs12099133	chr11:55030447-55030448	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141511327	chr11:55030510-55030511	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs567258255	chr11:55030517-55030518	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs532151753	chr11:55030528-55030529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs371810965	chr11:55030542-55030543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567739723	chr11:55030553-55030554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs114292010	chr11:55030570-55030571	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs190241974	chr11:55030614-55030615	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs529736964	chr11:55030615-55030616	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548471301	chr11:55030616-55030617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs570000956	chr11:55030648-55030649	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537229162	chr11:55030666-55030667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558512043	chr11:55030668-55030669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs7114087	chr11:55030685-55030686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs180806007	chr11:55030686-55030687	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs553070150	chr11:55030694-55030695	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116446948	chr11:55030707-55030708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535488100	chr11:55030713-55030714	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs557207600	chr11:55030715-55030716	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs369023593	chr11:55030718-55030719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575897400	chr11:55030720-55030721	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186269362	chr11:55030722-55030723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs149474527	chr11:55030725-55030726	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs115663522	chr11:55030726-55030727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573389656	chr11:55030729-55030730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs557810263	chr11:55030756-55030757	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540741848	chr11:55030758-55030759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs114021094	chr11:55030771-55030772	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs529699169	chr11:55030784-55030785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548237300	chr11:55030793-55030794	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs538978199	chr11:55030828-55030829	Active TSS	n/a	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55026600-55030400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:55030400-55031600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:55049200-55050000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:55049400-55050000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:55051800-55052200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:55057200-55057600	Active TSS	Fetal Heart	heart
7	chr11:55079600-55081200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:55083400-55083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:55110800-55112400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr11:55120800-55121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:55120800-55122200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:55121200-55121600	Enhancers	Brain Hippocampus Middle	brain
13	chr11:55124200-55124400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links