Variant report

Variant	nsv897334
Chromosome Location	chr11:48384631-48466503
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	chr11:48406340-48406509	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:48406400-48406550	GM12878	blood:	n/a	n/a
4	CTCF	chr11:48406253-48406594	K562	blood:	n/a	n/a
5	CTCF	chr11:48406340-48406541	GM12878	blood:	n/a	n/a
6	CTCF	chr11:48406380-48406530	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr11:48387500-48387650	HepG2	liver:	n/a	n/a
8	CTCF	chr11:48387460-48387610	GM12873	blood:	n/a	n/a
9	CTCF	chr11:48406400-48406550	GM12872	blood:	n/a	n/a
10	CTCF	chr11:48445392-48445457	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr11:48406320-48406470	HepG2	liver:	n/a	n/a
12	CTCF	chr11:48406360-48406510	HepG2	liver:	n/a	n/a
13	CTCF	chr11:48406321-48406528	K562	blood:	n/a	n/a
14	CTCF	chr11:48406326-48406543	K562	blood:	n/a	n/a
15	CTCF	chr11:48406380-48406530	HRE	kidney:	n/a	n/a
16	CTCF	chr11:48406380-48406530	WI-38	lung:	n/a	n/a
17	CTCF	chr11:48406360-48406510	GM12868	blood:	n/a	n/a
18	CTCF	chr11:48455736-48455815	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr11:48406380-48406530	GM12866	blood:	n/a	n/a
20	CTCF	chr11:48406345-48406538	GM19238	blood:	n/a	n/a
21	CTCF	chr11:48406302-48406548	Gliobla	brain:	n/a	n/a
22	CTCF	chr11:48406380-48406530	GM12864	blood:	n/a	n/a
23	CTCF	chr11:48406380-48406530	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr11:48387400-48387550	A549	lung:	n/a	n/a
25	CTCF	chr11:48406360-48406510	GM12871	blood:	n/a	n/a
26	CTCF	chr11:48406400-48406550	GM12874	blood:	n/a	n/a
27	CTCF	chr11:48406380-48406530	A549	lung:	n/a	n/a
28	CTCF	chr11:48440733-48440772	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr11:48406320-48406470	GM12878	blood:	n/a	n/a
30	CTCF	chr11:48406400-48406550	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr11:48406360-48406510	K562	blood:	n/a	n/a
32	CTCF	chr11:48406368-48406474	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr11:48406280-48406430	HMF	breast:	n/a	n/a
34	CTCF	chr11:48406360-48406514	GM13977	blood:	n/a	n/a
35	CTCF	chr11:48406420-48406570	GM12870	blood:	n/a	n/a
36	CTCF	chr11:48406440-48406590	NHEK	skin:	n/a	n/a
37	CTCF	chr11:48406360-48406510	GM12870	blood:	n/a	n/a
38	CTCF	chr11:48406340-48406516	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:48406358-48406515	GM19239	blood:	n/a	n/a
40	CTCF	chr11:48406400-48406550	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr11:48406380-48406530	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr11:48387420-48387570	HepG2	liver:	n/a	n/a
43	CTCF	chr11:48406366-48406490	LNCaP	prostate:	n/a	n/a
44	CTCF	chr11:48406362-48406483	NHEK	skin:	n/a	n/a
45	CTCF	chr11:48387460-48387610	GM12875	blood:	n/a	n/a
46	CTCF	chr11:48406380-48406530	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:48406380-48406530	GM06990	blood:	n/a	n/a
48	CTCF	chr11:48406340-48406490	GM06990	blood:	n/a	n/a
49	CTCF	chr11:48406380-48406530	NB4	blood:	n/a	n/a
50	CTCF	chr11:48406400-48406550	HBMEC	blood vessel:	n/a	n/a

No data

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

Extended variants
information (count: 554 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17800968	chr11:48384631-48384632	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185852770	chr11:48384675-48384676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73460736	chr11:48384676-48384677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs78450428	chr11:48384695-48384696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142107287	chr11:48384696-48384697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571868485	chr11:48384697-48384698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs80238402	chr11:48384701-48384702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75097696	chr11:48384709-48384710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs531795802	chr11:48384710-48384711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs76646288	chr11:48384711-48384712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs139664069	chr11:48384713-48384714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs78448927	chr11:48384716-48384717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77988334	chr11:48384717-48384718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567837358	chr11:48384734-48384735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536777167	chr11:48384749-48384750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10839486	chr11:48384752-48384753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548791448	chr11:48384753-48384754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs562011997	chr11:48384761-48384762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75287780	chr11:48384772-48384773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73460740	chr11:48384794-48384795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10839485	chr11:48384823-48384824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs367729981	chr11:48384824-48384825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs529653674	chr11:48384826-48384827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78962787	chr11:48384827-48384828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569702577	chr11:48384829-48384830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371445138	chr11:48384832-48384833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558366009	chr11:48384834-48384835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534492429	chr11:48384837-48384838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75168413	chr11:48384845-48384846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs61205849	chr11:48384856-48384857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs397820678	chr11:48384859-48384860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs77180570	chr11:48384865-48384866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs8181519	chr11:48384876-48384877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73460742	chr11:48384889-48384890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs139534873	chr11:48384941-48384942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs77309159	chr11:48384947-48384948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150859558	chr11:48384956-48384957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs374168011	chr11:48384957-48384958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77509933	chr11:48384965-48384966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs386753364	chr11:48385003-48385004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75909733	chr11:48385004-48385005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79347754	chr11:48385005-48385006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78983921	chr11:48385008-48385009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75489170	chr11:48385045-48385046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs538973294	chr11:48385050-48385051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76039004	chr11:48385052-48385053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs557779111	chr11:48385059-48385060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577836771	chr11:48385062-48385063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73460743	chr11:48385064-48385065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189013099	chr11:48385079-48385080	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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