Variant report

Variant	nsv508631
Chromosome Location	chr11:54842784-55030660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1481)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1481 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:54944326-54944655	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:55026236-55026614	HepG2	liver:	n/a	n/a
3	ATF1	chr11:54912080-54912450	K562	blood:	n/a	n/a
4	ATF1	chr11:54944286-54944657	K562	blood:	n/a	n/a
5	ATF1	chr11:55019501-55019863	K562	blood:	n/a	n/a
6	ATF1	chr11:54961546-54961918	K562	blood:	n/a	n/a
7	ATF1	chr11:55025562-55025910	K562	blood:	n/a	n/a
8	ATF1	chr11:55026235-55026613	K562	blood:	n/a	n/a
9	ATF1	chr11:54997083-54997606	K562	blood:	n/a	n/a
10	BACH1	chr11:54997720-54998094	K562	blood:	n/a	n/a
11	BACH1	chr11:54965393-54965420	K562	blood:	n/a	n/a
12	BACH1	chr11:55023515-55023741	K562	blood:	n/a	n/a
13	BACH1	chr11:54931923-54932027	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr11:55027309-55027604	GM12878	blood:	n/a	n/a
15	BATF	chr11:55015341-55015571	GM12878	blood:	n/a	n/a
16	BATF	chr11:54994433-54994731	GM12878	blood:	n/a	n/a
17	BATF	chr11:55015283-55015573	GM12878	blood:	n/a	n/a
18	BATF	chr11:55027264-55027610	GM12878	blood:	n/a	n/a
19	BATF	chr11:55016579-55016914	GM12878	blood:	n/a	n/a
20	BATF	chr11:55024818-55025202	GM12878	blood:	n/a	n/a
21	BATF	chr11:55008045-55008551	GM12878	blood:	n/a	n/a
22	BATF	chr11:54993502-54993709	GM12878	blood:	n/a	n/a
23	BATF	chr11:55000026-55000210	GM12878	blood:	n/a	n/a
24	BATF	chr11:55014461-55014721	GM12878	blood:	n/a	n/a
25	BATF	chr11:55016992-55017300	GM12878	blood:	n/a	n/a
26	BATF	chr11:55026006-55026557	GM12878	blood:	n/a	n/a
27	BATF	chr11:54941694-54941923	GM12878	blood:	n/a	n/a
28	BATF	chr11:54995261-54995543	GM12878	blood:	n/a	n/a
29	BATF	chr11:54975053-54975273	GM12878	blood:	n/a	n/a
30	BATF	chr11:54923047-54923213	GM12878	blood:	n/a	n/a
31	BATF	chr11:55025599-55025897	GM12878	blood:	n/a	n/a
32	BATF	chr11:54990182-54990428	GM12878	blood:	n/a	n/a
33	BATF	chr11:54993469-54993708	GM12878	blood:	n/a	n/a
34	BATF	chr11:55017098-55017251	GM12878	blood:	n/a	n/a
35	BATF	chr11:54995652-54995903	GM12878	blood:	n/a	n/a
36	BATF	chr11:55000059-55000268	GM12878	blood:	n/a	n/a
37	BATF	chr11:54995653-54995836	GM12878	blood:	n/a	n/a
38	BATF	chr11:55022914-55023156	GM12878	blood:	n/a	n/a
39	BATF	chr11:55026320-55026550	GM12878	blood:	n/a	n/a
40	BATF	chr11:55024927-55025127	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:55024915-55025213	GM12878	blood:	n/a	n/a
42	BCL11A	chr11:54993439-54993711	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:54993493-54993698	GM12878	blood:	n/a	n/a
44	BCL11A	chr11:54994518-54994736	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:55015258-55015698	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:55021527-55021954	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:54990210-54990502	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:55014434-55014749	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:55026097-55026292	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:55027329-55027566	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	chr11:55029786-55029836	Hepatocyte	liver:	n/a
2	chr11:55028287-55028337	HepG2	liver:	n/a
3	chr11:55028287-55028337	PANC-1	pancreas:	n/a
4	chr11:55029786-55029836	IMR90	lung:	fetal
5	chr11:55028287-55028337	SK-N-MC	brain:	n/a
6	chr11:55029786-55029836	GM12878	blood:	n/a
7	chr11:55029786-55029836	LNCaP	prostate:	n/a
8	chr11:55029786-55029836	PANC-1	pancreas:	n/a
9	chr11:55028287-55028337	Jurkat	blood:	n/a
10	chr11:55029786-55029836	BJ	skin:	n/a
11	chr11:55029786-55029836	HNPCEpiC	eye:	n/a
12	chr11:55028287-55028337	Hepatocyte	liver:	n/a
13	chr11:55028287-55028337	HRPEpiC	eye:	n/a
14	chr11:55028287-55028337	SK-N-SH_RA	brain:	n/a
15	chr11:55029786-55029836	U87	brain:	n/a
16	chr11:55029786-55029836	NHDF-neo	bronchial:	n/a
17	chr11:55029786-55029836	ECC-1	luminal epithelium:	n/a
18	chr11:55028287-55028337	HPAEpiC	pulmonary alveolar:	n/a
19	chr11:55028287-55028337	RPTEC	kidney:	n/a
20	chr11:55028287-55028337	BE2_C	brain:	n/a
21	chr11:55029786-55029836	Jurkat	blood:	n/a
22	chr11:55029786-55029836	AG09319	gingival:	n/a
23	chr11:55029786-55029836	HCM	heart:	n/a
24	chr11:55028287-55028337	HNPCEpiC	eye:	n/a
25	chr11:55029786-55029836	HUVEC	blood vessel:	n/a
26	chr11:55029786-55029836	HRE	kidney:	n/a
27	chr11:55028287-55028337	BJ	skin:	n/a
28	chr11:55028287-55028337	NT2-D1	testis:	n/a
29	chr11:55029786-55029836	SKMC	muscle:	n/a
30	chr11:55028287-55028337	AG09319	gingival:	n/a
31	chr11:55029786-55029836	HCPEpiC	choroid plexus:	n/a
32	chr11:55028287-55028337	HEEpiC	esophagus:	n/a
33	chr11:55029786-55029836	HL-60	blood:	n/a
34	chr11:55028287-55028337	HRCEpiC	kidney:	n/a
35	chr11:55028287-55028337	AG04450	lung:	fetal
36	chr11:55028287-55028337	LNCaP	prostate:	n/a
37	chr11:55028287-55028337	SAEC	small airway:	n/a
38	chr11:55028287-55028337	SKMC	muscle:	n/a
39	chr11:55029786-55029836	PFSK-1	brain:	n/a
40	chr11:55029786-55029836	MCF10A-Er-Src	breast:	n/a
41	chr11:55029786-55029836	GM06990	blood:	n/a
42	chr11:55029786-55029836	AG04450	lung:	fetal
43	chr11:55029786-55029836	HIPEpiC	eye:	n/a
44	chr11:55028287-55028337	GM19239	blood:	n/a
45	chr11:55028287-55028337	U87	brain:	n/a
46	chr11:55029786-55029836	NHBE	bronchial:	n/a
47	chr11:55028287-55028337	HRE	kidney:	n/a
48	chr11:55028287-55028337	GM12892	blood:	n/a
49	chr11:55029786-55029836	ovcar-3	ovarian:	n/a
50	chr11:55028287-55028337	HCT-116	colon:	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:

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: 13244 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:13244 , 50 per page) page: 1 2 3 4 5 6 7 ... 265

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565421477	chr11:54842798-54842799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs148744775	chr11:54842799-54842800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs80108532	chr11:54842826-54842827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181983950	chr11:54842842-54842843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs111441940	chr11:54842854-54842855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548885732	chr11:54842886-54842887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs116407208	chr11:54842899-54842900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs537886697	chr11:54842912-54842913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553507232	chr11:54842916-54842917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs12799543	chr11:54842921-54842922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs184402515	chr11:54842923-54842924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs72914447	chr11:54842931-54842932	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538353253	chr11:54842938-54842939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189008258	chr11:54842995-54842996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147934791	chr11:54843004-54843005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577446976	chr11:54843018-54843019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542393691	chr11:54843035-54843036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs141780449	chr11:54843057-54843058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576250700	chr11:54843073-54843074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545595876	chr11:54843082-54843083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565408778	chr11:54843085-54843086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565139301	chr11:54843098-54843099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532509314	chr11:54843133-54843134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs541555128	chr11:54843149-54843150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs559858212	chr11:54843180-54843181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531233236	chr11:54843193-54843194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs117303677	chr11:54843203-54843204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181756054	chr11:54843216-54843217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373449427	chr11:54843228-54843229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541784945	chr11:54843231-54843232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147113183	chr11:54843285-54843286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs560905573	chr11:54843321-54843322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114533077	chr11:54843322-54843323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147755793	chr11:54843323-54843324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140051786	chr11:54843344-54843345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538218147	chr11:54843405-54843406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544369282	chr11:54843431-54843432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186316917	chr11:54843451-54843452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566578541	chr11:54843453-54843454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs565423985	chr11:54843462-54843463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs149236654	chr11:54843477-54843478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536489643	chr11:54843481-54843482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs145269689	chr11:54843487-54843488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs150297317	chr11:54843491-54843492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191463680	chr11:54843513-54843514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs2704169	chr11:54843528-54843529	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs180687269	chr11:54843529-54843530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552352755	chr11:54843542-54843543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs541416286	chr11:54843545-54843546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559926017	chr11:54843549-54843550	ZNF genes & repeats	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54839000-54844200	ZNF genes & repeats	Liver	Liver
2	chr11:54839600-54843400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:54840000-54843600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr11:54841400-54844200	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr11:54844400-54847800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr11:54844800-54851800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:54846600-54848200	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr11:54859000-54860000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr11:54861400-54868200	ZNF genes & repeats	Liver	Liver
10	chr11:54862600-54863000	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr11:54863800-54872800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:54864400-54865600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr11:54873000-54876000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr11:54875000-54875200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:54875400-54875800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr11:54875800-54879400	Weak transcription	Adipose Nuclei	Adipose
17	chr11:54879400-54883200	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr11:54881400-54884400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr11:54881600-54885400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr11:54882800-54884400	ZNF genes & repeats	Liver	Liver
21	chr11:54888000-54888600	ZNF genes & repeats	Liver	Liver
22	chr11:54889200-54890400	Weak transcription	Stomach Mucosa	stomach
23	chr11:54890400-54891000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr11:54890400-54891000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr11:54890600-54890800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:54890600-54890800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
27	chr11:54890600-54890800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr11:54890600-54890800	Active TSS	Ovary	ovary
29	chr11:54890600-54891000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr11:54890600-54891000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:54890600-54891000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:54890600-54891000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr11:54890600-54891000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:54890600-54891000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:54890600-54891000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:54890600-54891000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr11:54890600-54891000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr11:54890600-54891000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr11:54890600-54891000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:54890600-54891000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:54890600-54891000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr11:54890600-54891000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr11:54890600-54891000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
46	chr11:54890600-54891000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:54890600-54891000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:54890600-54891000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr11:54890600-54891000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links