Variant report

Variant	nsv435627
Chromosome Location	chr11:48367292-48375858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:48367001-48367415	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:48367027-48367324	HCT-116	colon:	n/a	n/a
3	CEBPB	chr11:48374701-48375094	Hela-S3	cervix:	n/a	chr11:48374900-48374913
4	CEBPB	chr11:48367044-48367318	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:48367014-48367428	HCT-116	colon:	n/a	n/a
6	CTCF	chr11:48367644-48367692	Fibrobl	skin:	n/a	n/a
7	E2F4	chr11:48374623-48375377	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:48374688-48375073	MCF10A-Er-Src	breast:	n/a	chr11:48374839-48374847 chr11:48374838-48374848 chr11:48374840-48374847
9	FOS	chr11:48374670-48375469	MCF10A-Er-Src	breast:	n/a	chr11:48374839-48374847 chr11:48374838-48374848 chr11:48374840-48374847
10	FOS	chr11:48374697-48375035	MCF10A-Er-Src	breast:	n/a	chr11:48374839-48374847 chr11:48374838-48374848 chr11:48374840-48374847
11	FOS	chr11:48374407-48375433	MCF10A-Er-Src	breast:	n/a	chr11:48374839-48374847 chr11:48374838-48374848 chr11:48374840-48374847
12	FOXA2	chr11:48367787-48368347	A549	lung:	n/a	n/a
13	JUN	chr11:48375822-48375891	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr11:48374646-48375006	Hela-S3	cervix:	n/a	chr11:48374839-48374847 chr11:48374838-48374848 chr11:48374840-48374847
15	MAZ	chr11:48374625-48374741	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:48374222-48374421	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:48375609-48375675	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:48375211-48375286	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:48373728-48373976	MCF10A-Er-Src	breast:	n/a	n/a
20	SPI1	chr11:48371602-48371808	GM12878	blood:	n/a	n/a
21	SPI1	chr11:48371656-48371753	GM12878	blood:	n/a	n/a
22	STAT1	chr11:48367308-48367337	GM12878	blood:	n/a	n/a
23	STAT3	chr11:48373940-48375192	MCF10A-Er-Src	breast:	n/a	chr11:48375037-48375045 chr11:48374838-48374847 chr11:48374839-48374848
24	STAT3	chr11:48374783-48375004	MCF10A-Er-Src	breast:	n/a	chr11:48374838-48374847 chr11:48374839-48374848
25	STAT3	chr11:48374723-48374949	MCF10A-Er-Src	breast:	n/a	chr11:48374838-48374847 chr11:48374839-48374848
26	STAT3	chr11:48374749-48375283	MCF10A-Er-Src	breast:	n/a	chr11:48375037-48375045 chr11:48374838-48374847 chr11:48374839-48374848
27	TCF7L2	chr11:48374812-48374960	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48374446-48374496	AG10803	skin:	n/a
2	chr11:48374446-48374496	HL-60	blood:	n/a
3	chr11:48367974-48368024	NB4	blood:	n/a
4	chr11:48374446-48374496	ProgFib	skin:	n/a
5	chr11:48367974-48368024	HL-60	blood:	n/a
6	chr11:48367974-48368024	K562	blood:	n/a
7	chr11:48374446-48374496	PANC-1	pancreas:	n/a
8	chr11:48367974-48368024	AG09319	gingival:	n/a
9	chr11:48367974-48368024	HEK293	kidney:	embryo
10	chr11:48374446-48374496	BJ	skin:	n/a
11	chr11:48367974-48368024	ECC-1	luminal epithelium:	n/a
12	chr11:48374446-48374496	HUVEC	blood vessel:	n/a
13	chr11:48367974-48368024	HMEC	breast:	n/a
14	chr11:48374446-48374496	GM06990	blood:	n/a
15	chr11:48374446-48374496	AG04450	lung:	fetal
16	chr11:48367974-48368024	HIPEpiC	eye:	n/a
17	chr11:48374446-48374496	AoSMC	blood vessel:	n/a
18	chr11:48367974-48368024	RPTEC	kidney:	n/a
19	chr11:48374446-48374496	NHDF-neo	bronchial:	n/a
20	chr11:48367974-48368024	ProgFib	skin:	n/a
21	chr11:48374446-48374496	HNPCEpiC	eye:	n/a
22	chr11:48374446-48374496	Jurkat	blood:	n/a
23	chr11:48374446-48374496	HCPEpiC	choroid plexus:	n/a
24	chr11:48367974-48368024	HAEpiC	amniotic membrane:	n/a
25	chr11:48367974-48368024	GM12892	blood:	n/a
26	chr11:48374446-48374496	SK-N-SH	brain:	n/a
27	chr11:48367974-48368024	T-47D	breast:	n/a
28	chr11:48374446-48374496	RPTEC	kidney:	n/a
29	chr11:48367974-48368024	NHBE	bronchial:	n/a
30	chr11:48374446-48374496	CMK	blood:	n/a
31	chr11:48374446-48374496	HAEpiC	amniotic membrane:	n/a
32	chr11:48367974-48368024	AG09309	skin:	n/a
33	chr11:48374446-48374496	ECC-1	luminal epithelium:	n/a
34	chr11:48367974-48368024	Hepatocyte	liver:	n/a
35	chr11:48374446-48374496	K562	blood:	n/a
36	chr11:48374446-48374496	H1-hESC	embryonic stem cell:	embryo
37	chr11:48374446-48374496	LNCaP	prostate:	n/a
38	chr11:48374446-48374496	NT2-D1	testis:	n/a
39	chr11:48374446-48374496	HepG2	liver:	n/a
40	chr11:48367974-48368024	BE2_C	brain:	n/a
41	chr11:48367974-48368024	HUVEC	blood vessel:	n/a
42	chr11:48367974-48368024	PANC-1	pancreas:	n/a
43	chr11:48367974-48368024	SK-N-MC	brain:	n/a
44	chr11:48374446-48374496	MCF10A-Er-Src	breast:	n/a
45	chr11:48367974-48368024	Jurkat	blood:	n/a
46	chr11:48367974-48368024	BJ	skin:	n/a
47	chr11:48374446-48374496	HRE	kidney:	n/a
48	chr11:48367974-48368024	SAEC	small airway:	n/a
49	chr11:48367974-48368024	SKMC	muscle:	n/a
50	chr11:48374446-48374496	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48366878..48368914-chr11:48372533..48375413,2	MCF-7	breast:
2	chr11:48361908..48364233-chr11:48365831..48368223,2	MCF-7	breast:

Variant related genes	Relation type
OR4C4P	TF binding region
OR4C4P	CpG island
ENSG00000197161	chromatin interactions

Extended variants
information (count: 300 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73453180	chr11:48367311-48367312	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375092045	chr11:48367317-48367318	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539515138	chr11:48367318-48367319	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201480912	chr11:48367334-48367335	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73453183	chr11:48367363-48367364	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576386484	chr11:48367372-48367373	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78788561	chr11:48367387-48367388	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77576379	chr11:48367419-48367420	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375261215	chr11:48367420-48367421	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77976451	chr11:48367424-48367425	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554482493	chr11:48367444-48367445	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574387385	chr11:48367454-48367455	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79175163	chr11:48367455-48367456	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs386753334	chr11:48367469-48367470	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs80201516	chr11:48367470-48367471	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75116918	chr11:48367474-48367475	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144568988	chr11:48367485-48367486	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72896822	chr11:48367499-48367500	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs72896823	chr11:48367511-48367512	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545612294	chr11:48367524-48367525	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141695797	chr11:48367531-48367532	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539656447	chr11:48367535-48367536	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113600146	chr11:48367538-48367539	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548205554	chr11:48367557-48367558	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564019001	chr11:48367567-48367568	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533081869	chr11:48367584-48367585	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527948467	chr11:48367585-48367586	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139820638	chr11:48367590-48367591	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570929304	chr11:48367591-48367592	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77704354	chr11:48367593-48367594	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144463015	chr11:48367595-48367596	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200281426	chr11:48367596-48367597	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11826233	chr11:48367613-48367614	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535867790	chr11:48367614-48367615	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377518339	chr11:48367616-48367617	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374319886	chr11:48367643-48367644	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574397879	chr11:48367694-48367695	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200544353	chr11:48367697-48367698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140031863	chr11:48367713-48367714	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192196660	chr11:48367717-48367718	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545971142	chr11:48367736-48367737	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs72068053	chr11:48367741-48367742	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371471625	chr11:48367745-48367746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201526290	chr11:48367772-48367773	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562492545	chr11:48367777-48367778	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145933334	chr11:48367780-48367781	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200746368	chr11:48367816-48367817	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576160635	chr11:48367817-48367818	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs57563179	chr11:48367825-48367826	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201643423	chr11:48367833-48367834	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
Wilms tumour	21544195	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
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48364800-48367400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:48366400-48367400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:48366600-48367600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:48366800-48367600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
5	chr11:48367000-48367400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr11:48367000-48367400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr11:48367000-48367400	Active TSS	Fetal Heart	heart
8	chr11:48367000-48367600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:48367000-48367600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr11:48367000-48367600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr11:48367000-48367600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:48367000-48368600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:48367200-48367400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr11:48367200-48367400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr11:48367200-48367600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:48367200-48367600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:48367400-48367600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:48367400-48368400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:48367400-48368600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:48367600-48368000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:48367600-48368200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:48367600-48368200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:48367600-48368200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:48367600-48368400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr11:48367600-48368800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:48367600-48369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:48368000-48368600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr11:48368200-48368400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:48368200-48368600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:48368200-48368600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr11:48368800-48369000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:48373800-48379800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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