Variant report

Variant	nsv897337
Chromosome Location	chr11:48393542-48494681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:193)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:193 , 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	CEBPB	chr11:48477483-48477823	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:48477506-48477722	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:48477489-48477840	A549	lung:	n/a	n/a
5	CEBPB	chr11:48477500-48477793	IMR90	lung:	n/a	n/a
6	CEBPB	chr11:48477613-48477707	K562	blood:	n/a	n/a
7	CEBPB	chr11:48477590-48477827	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:48406320-48406470	HEK293	kidney:	n/a	n/a
9	CTCF	chr11:48406340-48406490	HAc	cerebellar:	n/a	n/a
10	CTCF	chr11:48406280-48406430	HMF	breast:	n/a	n/a
11	CTCF	chr11:48406340-48406509	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:48406322-48406487	K562	blood:	n/a	n/a
13	CTCF	chr11:48406340-48406516	MCF-7	breast:	n/a	n/a
14	CTCF	chr11:48429107-48429194	LNCaP	prostate:	n/a	n/a
15	CTCF	chr11:48406380-48406477	Fibrobl	skin:	n/a	n/a
16	CTCF	chr11:48408379-48408416	LNCaP	prostate:	n/a	n/a
17	CTCF	chr11:48478058-48478137	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:48406400-48406550	GM12878	blood:	n/a	n/a
19	CTCF	chr11:48406340-48406490	AG04449	skin:	n/a	n/a
20	CTCF	chr11:48406400-48406550	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr11:48406368-48406476	GM10266	blood:	n/a	n/a
22	CTCF	chr11:48479011-48479096	Fibrobl	skin:	n/a	n/a
23	CTCF	chr11:48406371-48406513	GM19240	blood:	n/a	n/a
24	CTCF	chr11:48406380-48406530	GM12871	blood:	n/a	n/a
25	CTCF	chr11:48406366-48406505	GM13976	blood:	n/a	n/a
26	CTCF	chr11:48406339-48406522	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr11:48406320-48406470	GM12878	blood:	n/a	n/a
28	CTCF	chr11:48406380-48406530	GM12873	blood:	n/a	n/a
29	CTCF	chr11:48406366-48406490	LNCaP	prostate:	n/a	n/a
30	CTCF	chr11:48406358-48406515	GM19239	blood:	n/a	n/a
31	CTCF	chr11:48406340-48406541	GM12878	blood:	n/a	n/a
32	CTCF	chr11:48492470-48492503	GM20000	blood:	n/a	n/a
33	CTCF	chr11:48490607-48490680	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr11:48406340-48406490	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr11:48406328-48406458	A549	lung:	n/a	n/a
36	CTCF	chr11:48406380-48406530	HRE	kidney:	n/a	n/a
37	CTCF	chr11:48406380-48406530	GM06990	blood:	n/a	n/a
38	CTCF	chr11:48477982-48478165	LNCaP	prostate:	n/a	n/a
39	CTCF	chr11:48406360-48406510	GM12871	blood:	n/a	n/a
40	CTCF	chr11:48406340-48406490	BE2_C	brain:	n/a	n/a
41	CTCF	chr11:48406412-48406469	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:48406380-48406530	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr11:48460361-48460395	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr11:48406400-48406550	K562	blood:	n/a	n/a
45	CTCF	chr11:48406400-48406550	GM12874	blood:	n/a	n/a
46	CTCF	chr11:48478040-48478190	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:48406380-48406530	WI-38	lung:	n/a	n/a
48	CTCF	chr11:48406380-48406530	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr11:48406340-48406490	HCT-116	colon:	n/a	n/a
50	CTCF	chr11:48405768-48405851	LNCaP	prostate:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48478071..48478587-chr11:49191267..49191777,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR4C9P	TF binding region
OR4C10P	TF binding region
OR4C2P	TF binding region

Extended variants
information (count: 199 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115924723	chr11:48400016-48400017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566841061	chr11:48400035-48400036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534642710	chr11:48400049-48400050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184084433	chr11:48400080-48400081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187823436	chr11:48400114-48400115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs190812385	chr11:48400119-48400120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557038795	chr11:48400141-48400142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs567223882	chr11:48400168-48400169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377158375	chr11:48400213-48400214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs536326450	chr11:48400282-48400283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552729487	chr11:48400286-48400287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145466945	chr11:48400291-48400292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs182510473	chr11:48400323-48400324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147657728	chr11:48400374-48400375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187254758	chr11:48400465-48400466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532775151	chr11:48400487-48400488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544451303	chr11:48400499-48400500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561509331	chr11:48400523-48400524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs139692277	chr11:48400524-48400525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192021226	chr11:48400600-48400601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560162090	chr11:48400608-48400609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs114311623	chr11:48400657-48400658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531971940	chr11:48400677-48400678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs145078721	chr11:48400678-48400679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149783631	chr11:48400728-48400729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs184483605	chr11:48400784-48400785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs115037339	chr11:48400787-48400788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs624348	chr11:48400795-48400796	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114683327	chr11:48400815-48400816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs536007243	chr11:48400829-48400830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs374836277	chr11:48400915-48400916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs145611891	chr11:48400929-48400930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368933092	chr11:48400938-48400939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs566482077	chr11:48400941-48400942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201118750	chr11:48400944-48400945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs202229084	chr11:48400947-48400948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200388704	chr11:48400964-48400965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538601912	chr11:48400967-48400968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188501728	chr11:48400968-48400969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576035817	chr11:48400976-48400977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544872719	chr11:48400993-48400994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs554904411	chr11:48401017-48401018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560938056	chr11:48401037-48401038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs145427718	chr11:48401067-48401068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540374863	chr11:48401070-48401071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs146491725	chr11:48401120-48401121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs547052181	chr11:48401124-48401125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532386822	chr11:48401129-48401130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545766601	chr11:48401135-48401136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs562524123	chr11:48401153-48401154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48400000-48401600	ZNF genes & repeats	Liver	Liver
2	chr11:48404600-48405800	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr11:48413000-48413400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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