Variant report

Variant	nsv897291
Chromosome Location	chr11:41818859-41902777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:38)
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	ATF1	chr11:41888533-41888637	K562	blood:	n/a	n/a
2	CEBPB	chr11:41858538-41858566	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:41899516-41900163	Hela-S3	cervix:	n/a	n/a
4	CHD1	chr11:41900860-41900876	GM12878	blood:	n/a	n/a
5	CTCF	chr11:41866740-41866890	NHEK	skin:	n/a	n/a
6	CTCF	chr11:41866700-41866850	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr11:41857755-41858112	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:41857860-41858010	HMEC	breast:	n/a	n/a
9	CTCF	chr11:41865678-41865753	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr11:41866700-41866850	HMEC	breast:	n/a	n/a
11	CTCF	chr11:41866806-41866864	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:41857920-41858070	SAEC	small airway:	n/a	n/a
13	CTCF	chr11:41886235-41886322	Lung_OC	lung:	n/a	n/a
14	CTCF	chr11:41893860-41894010	AG04449	skin:	n/a	n/a
15	CTCF	chr11:41891520-41891670	GM12872	blood:	n/a	n/a
16	CTCF	chr11:41885196-41885229	GM13976	blood:	n/a	n/a
17	CTCF	chr11:41897808-41897893	Lung_OC	lung:	n/a	n/a
18	CTCF	chr11:41869920-41870070	BE2_C	brain:	n/a	n/a
19	CTCF	chr11:41837647-41837674	GM20000	blood:	n/a	n/a
20	CTCF	chr11:41866760-41866910	BE2_C	brain:	n/a	n/a
21	CTCF	chr11:41866809-41866859	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr11:41866700-41866850	HRE	kidney:	n/a	n/a
23	CTCF	chr11:41893860-41894010	BE2_C	brain:	n/a	n/a
24	CTCF	chr11:41893940-41894090	BE2_C	brain:	n/a	n/a
25	CTCF	chr11:41866805-41866865	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr11:41866820-41866970	BE2_C	brain:	n/a	n/a
27	CTCF	chr11:41857958-41858043	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:41857900-41858050	HMEC	breast:	n/a	n/a
29	CUX1	chr11:41886997-41887056	GM12878	blood:	n/a	n/a
30	E2F4	chr11:41899753-41899953	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr11:41853502-41853656	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr11:41882020-41882249	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr11:41820675-41820809	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr11:41869430-41869485	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr11:41891301-41891388	MCF10A-Er-Src	breast:	n/a	n/a
36	EP300	chr11:41869250-41869521	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr11:41900732-41901159	Hela-S3	cervix:	n/a	n/a
38	EP300	chr11:41869854-41870315	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr11:41868535-41870534	SK-N-SH	brain:	n/a	n/a
40	EP300	chr11:41882425-41882556	GM12878	blood:	n/a	n/a
41	EP300	chr11:41869894-41870301	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr11:41899586-41900087	Hela-S3	cervix:	n/a	n/a
43	EP300	chr11:41869215-41869603	SK-N-SH_RA	brain:	n/a	n/a
44	FOS	chr11:41899637-41900292	MCF10A-Er-Src	breast:	n/a	chr11:41899981-41899991 chr11:41899981-41899991 chr11:41899901-41899910 chr11:41899981-41899991 chr11:41899836-41899845 chr11:41899981-41899991 chr11:41899982-41899990
45	FOS	chr11:41899727-41900152	MCF10A-Er-Src	breast:	n/a	chr11:41899981-41899991 chr11:41899981-41899991 chr11:41899901-41899910 chr11:41899981-41899991 chr11:41899836-41899845 chr11:41899981-41899991 chr11:41899982-41899990
46	FOS	chr11:41900672-41901232	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr11:41900520-41901223	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr11:41900639-41901155	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr11:41890214-41890555	MCF10A-Er-Src	breast:	n/a	chr11:41890373-41890381
50	FOS	chr11:41899628-41900089	Hela-S3	cervix:	n/a	chr11:41899981-41899991 chr11:41899981-41899991 chr11:41899901-41899910 chr11:41899981-41899991 chr11:41899836-41899845 chr11:41899981-41899991 chr11:41899982-41899990

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:41882120..41884005-chr11:41900919..41902631,2	K562	blood:
2	chr11:41822866..41824596-chr11:41828045..41830066,2	K562	blood:
3	chr11:41822866..41824596-chr11:41828045..41830066,2	K562	blood:
4	chr11:41847500..41849671-chr11:41851438..41853773,2	K562	blood:
5	chr11:41882120..41884005-chr11:41900919..41902631,2	K562	blood:
6	chr11:41847500..41849671-chr11:41851438..41853773,2	K562	blood:
7	chr11:41806608..41809521-chr11:41868668..41871358,2	MCF-7	breast:

(count:38 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-API5-10	chr11:41819093-41819514	NONHSAT018894
2	lnc-API5-3	chr11:41898406-41898628	ENSG00000254822
3	lnc-API5-4	chr11:41877470-41877607	ENSG00000255279
4	lnc-API5-4	chr11:41883501-41883880	ENSG00000255279
5	lnc-API5-5	chr11:41856721-41856799	NONHSAT018895
6	lnc-API5-4	chr11:41872041-41872169	NONHSAT018899
7	lnc-API5-5	chr11:41847701-41847827	ENSG00000255171.1
8	lnc-API5-5	chr11:41830517-41830633	NONHSAT018895
9	lnc-API5-5	chr11:41847701-41847772	ENSG00000255171.1
10	lnc-API5-4	chr11:41877878-41878104	XLOC_009113
11	lnc-API5-5	chr11:41842843-41842943	ENSG00000255171.1
12	lnc-API5-4	chr11:41877312-41877607	XLOC_009113
13	lnc-API5-5	chr11:41830517-41830633	ENSG00000255171.1
14	lnc-API5-4	chr11:41881279-41881407	XLOC_009113
15	lnc-API5-4	chr11:41897326-41897547	ENSG00000255279
16	lnc-API5-5	chr11:41842843-41842943	NONHSAT018895
17	lnc-API5-4	chr11:41877896-41878104	ENSG00000255279
18	lnc-API5-5	chr11:41830600-41830633	XLOC_009112
19	lnc-API5-4	chr11:41877878-41878104	NONHSAT018899
20	lnc-API5-4	chr11:41877312-41877607	NONHSAT018899
21	lnc-API5-5	chr11:41847701-41847827	XLOC_009112
22	lnc-API5-3	chr11:41898184-41898230	ENSG00000254822
23	lnc-API5-5	chr11:41847701-41847827	NONHSAT018895
24	lnc-API5-5	chr11:41856721-41856810	ENSG00000255171.1
25	lnc-API5-4	chr11:41883251-41883340	ENSG00000255279
26	lnc-API5-4	chr11:41877878-41878104	XLOC_009113
27	lnc-API5-5	chr11:41871667-41871849	XLOC_009112
28	lnc-API5-4	chr11:41872021-41872169	XLOC_009113
29	lnc-API5-4	chr11:41877312-41877607	XLOC_009113
30	lnc-API5-4	chr11:41881393-41881455	ENSG00000255279
31	lnc-API5-4	chr11:41877878-41878104	ENSG00000255279
32	lnc-API5-4	chr11:41881279-41881441	NONHSAT018899
33	lnc-API5-5	chr11:41857899-41857992	ENSG00000255171.1
34	lnc-API5-5	chr11:41842843-41842943	XLOC_009112
35	lnc-API5-4	chr11:41883251-41883380	ENSG00000255279
36	lnc-API5-4	chr11:41881279-41881409	XLOC_009113
37	lnc-API5-4	chr11:41873140-41873192	NONHSAT018899
38	lnc-API5-5	chr11:41842843-41842943	ENSG00000255171.1

No data

Variant related genes	Relation type
ENSG00000254668	TF binding region
ENSG00000255279	TF binding region
ENSG00000254822	TF binding region
RFX3	miRNA target sites
NCKIPSD	miRNA target sites
RGMA	miRNA target sites
APBB1	miRNA target sites

Extended variants
information (count: 1725 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1725 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567324455	chr11:41819109-41819110	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189676218	chr11:41819125-41819126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs72470874	chr11:41819134-41819135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs398097498	chr11:41819140-41819141	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs12285434	chr11:41819147-41819148	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575341271	chr11:41819185-41819186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs542345650	chr11:41819222-41819223	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs532315708	chr11:41819325-41819326	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs79028250	chr11:41819330-41819331	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs114445399	chr11:41819352-41819353	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565247820	chr11:41819367-41819368	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs532619726	chr11:41819379-41819380	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142291934	chr11:41819399-41819400	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs562930032	chr11:41819409-41819410	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs151242422	chr11:41819477-41819478	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs373507798	chr11:41819528-41819529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1385379	chr11:41819536-41819537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568767884	chr11:41819544-41819545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140432887	chr11:41819546-41819547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182688327	chr11:41819551-41819552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188148288	chr11:41819579-41819580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373954743	chr11:41819593-41819594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2862305	chr11:41819646-41819647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554915416	chr11:41819651-41819652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544371943	chr11:41819652-41819653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568484022	chr11:41819683-41819684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538927708	chr11:41819764-41819765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534279284	chr11:41819765-41819766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145905080	chr11:41819776-41819777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57081046	chr11:41819789-41819790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536419138	chr11:41819807-41819808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201815074	chr11:41819825-41819826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4756671	chr11:41819828-41819829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572564192	chr11:41819940-41819941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539847709	chr11:41819960-41819961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191642576	chr11:41819967-41819968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10837728	chr11:41820006-41820007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544487756	chr11:41820019-41820020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11036563	chr11:41820034-41820035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530250404	chr11:41820104-41820105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138457568	chr11:41820117-41820118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560390992	chr11:41820140-41820141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183594432	chr11:41820158-41820159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552645819	chr11:41820180-41820181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10768743	chr11:41820200-41820201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532476502	chr11:41820228-41820229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543878538	chr11:41820229-41820230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368301877	chr11:41820247-41820248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141352591	chr11:41820256-41820257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188967621	chr11:41820275-41820276	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cancer	20164919	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:41819200-41822000	Enhancers	Fetal Intestine Small	intestine
2	chr11:41820400-41822200	Enhancers	Fetal Intestine Large	intestine
3	chr11:41821000-41822000	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:41821200-41822000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:41822000-41825800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:41825800-41826000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr11:41834800-41835400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:41838400-41839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:41843000-41843600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:41843200-41843600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:41843200-41843800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:41847400-41848400	Enhancers	Fetal Intestine Small	intestine
13	chr11:41847400-41849200	Enhancers	Fetal Intestine Large	intestine
14	chr11:41863200-41865600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:41863400-41863800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:41863800-41864400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:41864000-41864400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr11:41864400-41874200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:41869600-41870400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:41873800-41875800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:41874000-41875800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr11:41874200-41874400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:41874200-41875000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:41874200-41875400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:41874200-41875400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:41875800-41881200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:41879600-41879800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:41879800-41885000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:41881200-41881800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:41885000-41885600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:41885400-41886600	Enhancers	Fetal Intestine Small	intestine
32	chr11:41890000-41890400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:41890000-41890600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:41893800-41894200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:41893800-41894400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:41894000-41894400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:41894000-41894400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:41895600-41895800	ZNF genes & repeats	Psoas Muscle	Psoas
39	chr11:41898200-41899600	Enhancers	Hela-S3	cervix
40	chr11:41899600-41900000	Weak transcription	Hela-S3	cervix
41	chr11:41900000-41901600	Enhancers	NH-A	brain
42	chr11:41900000-41901800	Enhancers	Hela-S3	cervix
43	chr11:41900800-41901400	Enhancers	HMEC	breast
44	chr11:41901200-41901800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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