Variant report

Variant	nsv1046755
Chromosome Location	chr11:54897485-55036460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1421)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1421 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:55026236-55026614	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:54944326-54944655	HepG2	liver:	n/a	n/a
3	ATF1	chr11:55025562-55025910	K562	blood:	n/a	n/a
4	ATF1	chr11:54944286-54944657	K562	blood:	n/a	n/a
5	ATF1	chr11:55026235-55026613	K562	blood:	n/a	n/a
6	ATF1	chr11:54997083-54997606	K562	blood:	n/a	n/a
7	ATF1	chr11:54961546-54961918	K562	blood:	n/a	n/a
8	ATF1	chr11:54912080-54912450	K562	blood:	n/a	n/a
9	ATF1	chr11:55019501-55019863	K562	blood:	n/a	n/a
10	BACH1	chr11:54965393-54965420	K562	blood:	n/a	n/a
11	BACH1	chr11:54997720-54998094	K562	blood:	n/a	n/a
12	BACH1	chr11:54931923-54932027	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr11:55023515-55023741	K562	blood:	n/a	n/a
14	BATF	chr11:55026006-55026557	GM12878	blood:	n/a	n/a
15	BATF	chr11:54995652-54995903	GM12878	blood:	n/a	n/a
16	BATF	chr11:54990182-54990428	GM12878	blood:	n/a	n/a
17	BATF	chr11:55027264-55027610	GM12878	blood:	n/a	n/a
18	BATF	chr11:55017098-55017251	GM12878	blood:	n/a	n/a
19	BATF	chr11:55015283-55015573	GM12878	blood:	n/a	n/a
20	BATF	chr11:55000026-55000210	GM12878	blood:	n/a	n/a
21	BATF	chr11:55008045-55008551	GM12878	blood:	n/a	n/a
22	BATF	chr11:55014461-55014721	GM12878	blood:	n/a	n/a
23	BATF	chr11:55026320-55026550	GM12878	blood:	n/a	n/a
24	BATF	chr11:54923047-54923213	GM12878	blood:	n/a	n/a
25	BATF	chr11:54994433-54994731	GM12878	blood:	n/a	n/a
26	BATF	chr11:54975053-54975273	GM12878	blood:	n/a	n/a
27	BATF	chr11:55016579-55016914	GM12878	blood:	n/a	n/a
28	BATF	chr11:54995653-54995836	GM12878	blood:	n/a	n/a
29	BATF	chr11:55015341-55015571	GM12878	blood:	n/a	n/a
30	BATF	chr11:55024927-55025127	GM12878	blood:	n/a	n/a
31	BATF	chr11:55022914-55023156	GM12878	blood:	n/a	n/a
32	BATF	chr11:54995261-54995543	GM12878	blood:	n/a	n/a
33	BATF	chr11:55000059-55000268	GM12878	blood:	n/a	n/a
34	BATF	chr11:55016992-55017300	GM12878	blood:	n/a	n/a
35	BATF	chr11:55027309-55027604	GM12878	blood:	n/a	n/a
36	BATF	chr11:55025599-55025897	GM12878	blood:	n/a	n/a
37	BATF	chr11:54993469-54993708	GM12878	blood:	n/a	n/a
38	BATF	chr11:55024818-55025202	GM12878	blood:	n/a	n/a
39	BATF	chr11:54941694-54941923	GM12878	blood:	n/a	n/a
40	BATF	chr11:54993502-54993709	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:55017103-55017275	GM12878	blood:	n/a	n/a
42	BCL11A	chr11:55027329-55027566	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:55026316-55026485	GM12878	blood:	n/a	n/a
44	BCL11A	chr11:55000051-55000252	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:55014434-55014749	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:55015258-55015698	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:55025607-55025773	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:55027304-55027631	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:55021527-55021954	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:55026097-55026292	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55028287-55028337	AG09309	skin:	n/a
2	chr11:55029786-55029836	AG09309	skin:	n/a
3	chr11:55029786-55029836	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:55028287-55028337	MCF-7	breast:	n/a
5	chr11:55029786-55029836	SK-N-SH	brain:	n/a
6	chr11:55028287-55028337	CMK	blood:	n/a
7	chr11:55028287-55028337	GM12891	blood:	n/a
8	chr11:55029786-55029836	Jurkat	blood:	n/a
9	chr11:55028287-55028337	RPTEC	kidney:	n/a
10	chr11:55029786-55029836	NHBE	bronchial:	n/a
11	chr11:55029786-55029836	HEK293	kidney:	embryo
12	chr11:55028287-55028337	HRCEpiC	kidney:	n/a
13	chr11:55029786-55029836	GM12891	blood:	n/a
14	chr11:55029786-55029836	ovcar-3	ovarian:	n/a
15	chr11:55029786-55029836	NHDF-neo	bronchial:	n/a
16	chr11:55029786-55029836	A549	lung:	n/a
17	chr11:55029786-55029836	SKMC	muscle:	n/a
18	chr11:55029786-55029836	SK-N-SH_RA	brain:	n/a
19	chr11:55029786-55029836	Caco-2	colon:	n/a
20	chr11:55029786-55029836	NB4	blood:	n/a
21	chr11:55028287-55028337	LNCaP	prostate:	n/a
22	chr11:55028287-55028337	GM12878	blood:	n/a
23	chr11:55028287-55028337	GM12892	blood:	n/a
24	chr11:55029786-55029836	RPTEC	kidney:	n/a
25	chr11:55029786-55029836	HCPEpiC	choroid plexus:	n/a
26	chr11:55029786-55029836	MCF-7	breast:	n/a
27	chr11:55028287-55028337	SKMC	muscle:	n/a
28	chr11:55029786-55029836	HMEC	breast:	n/a
29	chr11:55028287-55028337	U87	brain:	n/a
30	chr11:55028287-55028337	SK-N-MC	brain:	n/a
31	chr11:55028287-55028337	HIPEpiC	eye:	n/a
32	chr11:55029786-55029836	K562	blood:	n/a
33	chr11:55029786-55029836	GM06990	blood:	n/a
34	chr11:55028287-55028337	ECC-1	luminal epithelium:	n/a
35	chr11:55028287-55028337	HCT-116	colon:	n/a
36	chr11:55029786-55029836	AG10803	skin:	n/a
37	chr11:55028287-55028337	HRE	kidney:	n/a
38	chr11:55029786-55029836	CMK	blood:	n/a
39	chr11:55028287-55028337	HepG2	liver:	n/a
40	chr11:55028287-55028337	HEEpiC	esophagus:	n/a
41	chr11:55029786-55029836	AG04449	skin:	fetal
42	chr11:55029786-55029836	IMR90	lung:	fetal
43	chr11:55028287-55028337	HL-60	blood:	n/a
44	chr11:55029786-55029836	BE2_C	brain:	n/a
45	chr11:55028287-55028337	NT2-D1	testis:	n/a
46	chr11:55029786-55029836	U87	brain:	n/a
47	chr11:55029786-55029836	LNCaP	prostate:	n/a
48	chr11:55029786-55029836	HepG2	liver:	n/a
49	chr11:55028287-55028337	NHDF-neo	bronchial:	n/a
50	chr11:55029786-55029836	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121484468..121485418-chr11:54954643..54955164,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4A16-3	chr11:55034884-55035112	NONHSAT021352

No data

Variant related genes	Relation type
TRIM48	TF binding region
ENSG00000255543	TF binding region
TRIM48	CpG island
ENSG00000255543	CpG island

Extended variants
information (count: 10242 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:10242 , 50 per page) page: 1 2 3 4 5 6 7 ... 205

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544613011	chr11:54907603-54907604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs556773176	chr11:54907627-54907628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs2688717	chr11:54907648-54907649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188733531	chr11:54907655-54907656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564179043	chr11:54907659-54907660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528027262	chr11:54907724-54907725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs540240580	chr11:54907726-54907727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573595154	chr11:54907754-54907755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75664755	chr11:54907758-54907759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529168483	chr11:54907766-54907767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550511777	chr11:54907772-54907773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568702640	chr11:54907775-54907776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376429624	chr11:54907779-54907780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551415940	chr11:54907794-54907795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs566977279	chr11:54907806-54907807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs535938111	chr11:54907822-54907823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs111262353	chr11:54907843-54907844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112174904	chr11:54907864-54907865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs181381660	chr11:54907874-54907875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs78795283	chr11:54907883-54907884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567580154	chr11:54907884-54907885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142073385	chr11:54907903-54907904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556934735	chr11:54907919-54907920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200495797	chr11:54907926-54907927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs578185626	chr11:54907932-54907933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs145273848	chr11:54907933-54907934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140479755	chr11:54907946-54907947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs138977908	chr11:54907947-54907948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs185226376	chr11:54907948-54907949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs147354147	chr11:54907955-54907956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs572910540	chr11:54907956-54907957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs149723107	chr11:54907962-54907963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545619610	chr11:54907975-54907976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11828095	chr11:54907978-54907979	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572881917	chr11:54907995-54907996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539984027	chr11:54908001-54908002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561724342	chr11:54908003-54908004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71479933	chr11:54908007-54908008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs373585920	chr11:54908016-54908017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs141197227	chr11:54908021-54908022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs80168690	chr11:54908042-54908043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113098320	chr11:54908045-54908046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529321234	chr11:54908047-54908048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs113442664	chr11:54908052-54908053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75492989	chr11:54908059-54908060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs77025827	chr11:54908061-54908062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113240697	chr11:54908064-54908065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs145356033	chr11:54908065-54908066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74995023	chr11:54908067-54908068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200031972	chr11:54908068-54908069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Breast cancer	22522925	CNVD

Chromatin state (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54907600-54919200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:54910000-54911000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:54911600-54913000	ZNF genes & repeats	Psoas Muscle	Psoas
4	chr11:54911800-54912000	Active TSS	NH-A	brain
5	chr11:54912000-54912200	ZNF genes & repeats	HSMMtube	muscle
6	chr11:54912000-54912200	Bivalent/Poised TSS	NH-A	brain
7	chr11:54915200-54916800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr11:54915800-54929800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:54915800-54934800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr11:54923400-54926600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr11:54924800-54925200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr11:54924800-54925400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:54925000-54925200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr11:54927200-54929400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:54928600-54929600	Active TSS	Right Atrium	heart
16	chr11:54930600-54931000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr11:54933000-54934400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:54936200-54936400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr11:54940000-54941200	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr11:54940000-54941800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr11:54941000-54943000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:54941400-54942200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr11:54941600-54942000	Active TSS	Aorta	Aorta
24	chr11:54942000-54944200	Weak transcription	Aorta	Aorta
25	chr11:54942600-54945000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr11:54943200-54945400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr11:54943400-54948200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr11:54944000-54944600	ZNF genes & repeats	Liver	Liver
29	chr11:54944200-54944400	Enhancers	Aorta	Aorta
30	chr11:54944200-54944400	ZNF genes & repeats	Colonic Mucosa	Colon
31	chr11:54944200-54944400	ZNF genes & repeats	Fetal Kidney	kidney
32	chr11:54944200-54944600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr11:54944200-54944600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:54944200-54944600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
35	chr11:54944200-54944600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
36	chr11:54944200-54944600	ZNF genes & repeats	Left Ventricle	heart
37	chr11:54944200-54944600	Active TSS	Ovary	ovary
38	chr11:54944200-54944600	Active TSS	Right Atrium	heart
39	chr11:54944200-54944800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
40	chr11:54944200-54944800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:54944200-54945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:54946600-54951200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:54948600-54950800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr11:54948800-54951400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr11:54950000-54950600	ZNF genes & repeats	Liver	Liver
46	chr11:54950200-54950800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:54950400-54950600	ZNF genes & repeats	Stomach Mucosa	stomach
48	chr11:54950400-54950800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr11:54950400-54950800	Active TSS	Ovary	ovary
50	chr11:54950400-54950800	Active TSS	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links