Variant report

Variant	nsv975177
Chromosome Location	chr11:49829555-49845180
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	BATF	chr11:49844388-49844674	GM12878	blood:	n/a	chr11:49844482-49844492
2	BATF	chr11:49844365-49844744	GM12878	blood:	n/a	chr11:49844482-49844492
3	BCL11A	chr11:49844437-49844676	GM12878	blood:	n/a	n/a
4	CTCF	chr11:49837245-49837320	Lung_OC	lung:	n/a	n/a
5	CTCF	chr11:49843648-49843704	GM13976	blood:	n/a	n/a
6	EBF1	chr11:49844397-49844840	GM12878	blood:	n/a	chr11:49844697-49844710 chr11:49844699-49844708 chr11:49844698-49844708 chr11:49844699-49844708 chr11:49844456-49844466
7	EBF1	chr11:49844434-49844808	GM12878	blood:	n/a	chr11:49844697-49844710 chr11:49844699-49844708 chr11:49844698-49844708 chr11:49844699-49844708 chr11:49844456-49844466
8	EBF1	chr11:49844335-49844888	GM12878	blood:	n/a	chr11:49844697-49844710 chr11:49844699-49844708 chr11:49844698-49844708 chr11:49844699-49844708 chr11:49844456-49844466
9	EP300	chr11:49844462-49844758	GM12878	blood:	n/a	n/a
10	IRF4	chr11:49844364-49844774	GM12878	blood:	n/a	n/a
11	PAX5	chr11:49844357-49844799	GM12878	blood:	n/a	n/a
12	PBX3	chr11:49838629-49839057	GM12878	blood:	n/a	n/a
13	PBX3	chr11:49838120-49838512	GM12878	blood:	n/a	n/a
14	REST	chr11:49839247-49839399	PFSK-1	brain:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
15	REST	chr11:49839184-49839432	HepG2	liver:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
16	REST	chr11:49839243-49839412	SK-N-SH	brain:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
17	REST	chr11:49839155-49839458	H1-hESC	embryonic stem cell:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
18	REST	chr11:49839247-49839504	PANC-1	pancreas:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
19	REST	chr11:49839226-49839440	HepG2	liver:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
20	REST	chr11:49839233-49839405	HepG2	liver:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
21	REST	chr11:49839234-49839477	H1-hESC	embryonic stem cell:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
22	REST	chr11:49839188-49839429	PFSK-1	brain:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
23	REST	chr11:49839169-49839441	SK-N-SH	brain:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
24	REST	chr11:49839151-49839556	SK-N-SH	brain:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
25	REST	chr11:49839162-49839491	SK-N-SH	brain:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
26	REST	chr11:49839239-49839401	HepG2	liver:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
27	REST	chr11:49839241-49839419	PANC-1	pancreas:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
28	REST	chr11:49839255-49839458	GM12878	blood:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
29	REST	chr11:49839122-49839726	U87	brain:	n/a	chr11:49839318-49839338 chr11:49839324-49839333 chr11:49839319-49839337 chr11:49839318-49839338 chr11:49839318-49839332 chr11:49839318-49839338
30	TCF12	chr11:49844465-49844639	GM12878	blood:	n/a	chr11:49844526-49844533
31	TCF3	chr11:49838620-49838996	GM12878	blood:	n/a	n/a
32	TCF3	chr11:49838033-49838520	GM12878	blood:	n/a	n/a
33	TCF3	chr11:49844361-49844669	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49839281-49839331	AG09319	gingival:	n/a
2	chr11:49839281-49839331	AG09319	gingival:	n/a
3	chr11:49836586-49836636	HUVEC	blood vessel:	n/a
4	chr11:49839836-49839886	AG09319	gingival:	n/a
5	chr11:49839836-49839886	HCT-116	colon:	n/a
6	chr11:49838266-49838316	HUVEC	blood vessel:	n/a
7	chr11:49837068-49837118	NT2-D1	testis:	n/a
8	chr11:49837274-49837324	HRPEpiC	eye:	n/a
9	chr11:49837219-49837269	GM12878	blood:	n/a
10	chr11:49837274-49837324	Hepatocyte	liver:	n/a
11	chr11:49839512-49839562	NHDF-neo	bronchial:	n/a
12	chr11:49837219-49837269	T-47D	breast:	n/a
13	chr11:49837219-49837269	SK-N-SH	brain:	n/a
14	chr11:49839512-49839562	RPTEC	kidney:	n/a
15	chr11:49837219-49837269	ovcar-3	ovarian:	n/a
16	chr11:49839836-49839886	SK-N-SH_RA	brain:	n/a
17	chr11:49838266-49838316	HNPCEpiC	eye:	n/a
18	chr11:49837274-49837324	SK-N-MC	brain:	n/a
19	chr11:49836586-49836636	K562	blood:	n/a
20	chr11:49838266-49838316	HepG2	liver:	n/a
21	chr11:49838266-49838316	SAEC	small airway:	n/a
22	chr11:49843431-49843481	PrEC	prostate:	n/a
23	chr11:49838266-49838316	AG09319	gingival:	n/a
24	chr11:49837068-49837118	U87	brain:	n/a
25	chr11:49838266-49838316	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:49839836-49839886	CMK	blood:	n/a
27	chr11:49837274-49837324	GM12878	blood:	n/a
28	chr11:49843431-49843481	ECC-1	luminal epithelium:	n/a
29	chr11:49839512-49839562	HRCEpiC	kidney:	n/a
30	chr11:49839281-49839331	PANC-1	pancreas:	n/a
31	chr11:49843431-49843481	GM12878	blood:	n/a
32	chr11:49843431-49843481	HL-60	blood:	n/a
33	chr11:49837068-49837118	K562	blood:	n/a
34	chr11:49839836-49839886	PANC-1	pancreas:	n/a
35	chr11:49837274-49837324	MCF-7	breast:	n/a
36	chr11:49837068-49837118	H1-hESC	embryonic stem cell:	embryo
37	chr11:49839836-49839886	HRCEpiC	kidney:	n/a
38	chr11:49839512-49839562	SK-N-SH_RA	brain:	n/a
39	chr11:49843431-49843481	AG09319	gingival:	n/a
40	chr11:49837274-49837324	NT2-D1	testis:	n/a
41	chr11:49837274-49837324	HCT-116	colon:	n/a
42	chr11:49837068-49837118	ProgFib	skin:	n/a
43	chr11:49837219-49837269	HRE	kidney:	n/a
44	chr11:49839836-49839886	PFSK-1	brain:	n/a
45	chr11:49837219-49837269	MCF-7	breast:	n/a
46	chr11:49837219-49837269	H1-hESC	embryonic stem cell:	embryo
47	chr11:49837274-49837324	AG09309	skin:	n/a
48	chr11:49839512-49839562	BJ	skin:	n/a
49	chr11:49839281-49839331	A549	lung:	n/a
50	chr11:49837068-49837118	SK-N-MC	brain:	n/a

Variant related genes	Relation type
ENSG00000254487	TF binding region
ENSG00000254487	CpG island

Extended variants
information (count: 94 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548007794	chr11:49836595-49836596	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs377745302	chr11:49836598-49836599	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs559990111	chr11:49836607-49836608	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs188985551	chr11:49836616-49836617	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs561528507	chr11:49836635-49836636	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs199562014	chr11:49837097-49837098	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs369287822	chr11:49837099-49837100	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs372398743	chr11:49837115-49837116	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs371158531	chr11:49837233-49837234	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs186023054	chr11:49837251-49837252	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs199572604	chr11:49837275-49837276	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs376064400	chr11:49837312-49837313	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs77335811	chr11:49837321-49837322	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs114288562	chr11:49837323-49837324	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs532543863	chr11:49838061-49838062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528011202	chr11:49838077-49838078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs570410535	chr11:49838078-49838079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs552930005	chr11:49838086-49838087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112623699	chr11:49838152-49838153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs183004235	chr11:49838156-49838157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548783444	chr11:49838159-49838160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs140067988	chr11:49838177-49838178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533648735	chr11:49838181-49838182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs547079830	chr11:49838185-49838186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187259990	chr11:49838254-49838255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192503133	chr11:49838276-49838277	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs538703780	chr11:49838292-49838293	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs556219280	chr11:49838305-49838306	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs569950360	chr11:49838337-49838338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs552304975	chr11:49838354-49838355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs143619117	chr11:49838362-49838363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555542432	chr11:49838376-49838377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs572233242	chr11:49838402-49838403	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs540773408	chr11:49838430-49838431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs536135550	chr11:49838444-49838445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs554283405	chr11:49838503-49838504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs183672466	chr11:49838646-49838647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs527876150	chr11:49838666-49838667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs375779221	chr11:49838667-49838668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547118631	chr11:49838675-49838676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs570198083	chr11:49838697-49838698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs370136621	chr11:49838705-49838706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs532830557	chr11:49838713-49838714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373989331	chr11:49838718-49838719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs56394536	chr11:49838721-49838722	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs150364782	chr11:49838759-49838760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535752735	chr11:49838775-49838776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs3974437	chr11:49838800-49838801	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs3974438	chr11:49838802-49838803	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534791329	chr11:49838871-49838872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49839400-49839600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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