Variant report

Variant	nsv971942
Chromosome Location	chr11:48384914-48466443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:184)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:184 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:48393835-48394182	GM12878	blood:	n/a	n/a
2	CTCF	chr11:48406380-48406530	GM12866	blood:	n/a	n/a
3	CTCF	chr11:48406340-48406490	HAc	cerebellar:	n/a	n/a
4	CTCF	chr11:48387540-48387690	GM12870	blood:	n/a	n/a
5	CTCF	chr11:48406380-48406530	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr11:48387445-48387596	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:48406380-48406530	GM06990	blood:	n/a	n/a
8	CTCF	chr11:48406412-48406469	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:48406380-48406530	GM12864	blood:	n/a	n/a
10	CTCF	chr11:48406360-48406510	HepG2	liver:	n/a	n/a
11	CTCF	chr11:48406360-48406510	GM12867	blood:	n/a	n/a
12	CTCF	chr11:48406360-48406510	K562	blood:	n/a	n/a
13	CTCF	chr11:48430474-48430511	GM13977	blood:	n/a	n/a
14	CTCF	chr11:48406368-48406476	GM10266	blood:	n/a	n/a
15	CTCF	chr11:48406322-48406487	K562	blood:	n/a	n/a
16	CTCF	chr11:48406400-48406550	K562	blood:	n/a	n/a
17	CTCF	chr11:48406366-48406490	LNCaP	prostate:	n/a	n/a
18	CTCF	chr11:48406354-48406518	GM12892	blood:	n/a	n/a
19	CTCF	chr11:48406380-48406530	GM12874	blood:	n/a	n/a
20	CTCF	chr11:48387380-48387530	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:48406371-48406484	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:48406331-48406526	A549	lung:	n/a	n/a
23	CTCF	chr11:48406380-48406530	HL-60	blood:	n/a	n/a
24	CTCF	chr11:48387466-48387587	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:48406300-48406450	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr11:48406436-48406443	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr11:48406340-48406509	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:48406380-48406530	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:48406280-48406430	HMF	breast:	n/a	n/a
30	CTCF	chr11:48406360-48406510	GM12865	blood:	n/a	n/a
31	CTCF	chr11:48387420-48387570	Caco-2	colon:	n/a	n/a
32	CTCF	chr11:48406420-48406570	GM12870	blood:	n/a	n/a
33	CTCF	chr11:48406360-48406510	HMF	breast:	n/a	n/a
34	CTCF	chr11:48406345-48406538	GM19238	blood:	n/a	n/a
35	CTCF	chr11:48387420-48387570	GM12872	blood:	n/a	n/a
36	CTCF	chr11:48406340-48406490	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr11:48429107-48429194	LNCaP	prostate:	n/a	n/a
38	CTCF	chr11:48406380-48406530	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr11:48387460-48387610	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:48406380-48406530	GM12865	blood:	n/a	n/a
41	CTCF	chr11:48406366-48406505	GM13976	blood:	n/a	n/a
42	CTCF	chr11:48406362-48406483	NHEK	skin:	n/a	n/a
43	CTCF	chr11:48406320-48406470	HepG2	liver:	n/a	n/a
44	CTCF	chr11:48387440-48387590	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr11:48406321-48406528	K562	blood:	n/a	n/a
46	CTCF	chr11:48406380-48406530	NB4	blood:	n/a	n/a
47	CTCF	chr11:48387460-48387610	Caco-2	colon:	n/a	n/a
48	CTCF	chr11:48406400-48406550	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr11:48406379-48406509	A549	lung:	n/a	n/a
50	CTCF	chr11:48387400-48387550	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
OR4C5	TF binding region
OR4C10P	TF binding region
OR4C2P	TF binding region

Extended variants
information (count: 520 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139534873	chr11:48384941-48384942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs77309159	chr11:48384947-48384948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150859558	chr11:48384956-48384957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374168011	chr11:48384957-48384958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77509933	chr11:48384965-48384966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs386753364	chr11:48385003-48385004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75909733	chr11:48385004-48385005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79347754	chr11:48385005-48385006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78983921	chr11:48385008-48385009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs75489170	chr11:48385045-48385046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538973294	chr11:48385050-48385051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76039004	chr11:48385052-48385053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557779111	chr11:48385059-48385060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs577836771	chr11:48385062-48385063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs73460743	chr11:48385064-48385065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189013099	chr11:48385079-48385080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74836842	chr11:48385101-48385102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76944602	chr11:48385102-48385103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs563172574	chr11:48385103-48385104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76193103	chr11:48385111-48385112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs78791248	chr11:48385114-48385115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76370654	chr11:48385135-48385136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs77857501	chr11:48385149-48385150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75738678	chr11:48385168-48385169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75750533	chr11:48385173-48385174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs75254298	chr11:48385184-48385185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs10769652	chr11:48385204-48385205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs79353289	chr11:48385209-48385210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76382617	chr11:48385214-48385215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76718458	chr11:48385241-48385242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs12280821	chr11:48385250-48385251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73460744	chr11:48385268-48385269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573486223	chr11:48385274-48385275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1483120	chr11:48385289-48385290	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12273799	chr11:48385327-48385328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs78915754	chr11:48385328-48385329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79398410	chr11:48385331-48385332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78131071	chr11:48385334-48385335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77778045	chr11:48385338-48385339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559020302	chr11:48385363-48385364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75856865	chr11:48385372-48385373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs77852221	chr11:48385380-48385381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs73460747	chr11:48385405-48385406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544954883	chr11:48385436-48385437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79822563	chr11:48385440-48385441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs114900497	chr11:48385442-48385443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12273703	chr11:48385451-48385452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565460846	chr11:48385456-48385457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73460748	chr11:48385474-48385475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs386753365	chr11:48385517-48385518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48376200-48385000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:48382200-48388400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:48400000-48401600	ZNF genes & repeats	Liver	Liver
4	chr11:48404600-48405800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr11:48413000-48413400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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