Variant report

Variant	nsv1048979
Chromosome Location	chr11:49787157-49862647
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	chr11:49851722-49851990	GM12878	blood:	n/a	n/a
3	BATF	chr11:49844365-49844744	GM12878	blood:	n/a	chr11:49844482-49844492
4	BATF	chr11:49851774-49851972	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:49844437-49844676	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:49851712-49851919	GM12878	blood:	n/a	n/a
7	CEBPB	chr11:49856098-49856319	HepG2	liver:	n/a	chr11:49856132-49856143
8	CEBPB	chr11:49856078-49856257	A549	lung:	n/a	chr11:49856132-49856143
9	CEBPB	chr11:49821217-49821358	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr11:49794955-49795202	IMR90	lung:	n/a	chr11:49795070-49795079 chr11:49795068-49795079 chr11:49795170-49795181 chr11:49795170-49795181
11	CEBPB	chr11:49856090-49856321	IMR90	lung:	n/a	chr11:49856132-49856143
12	CEBPB	chr11:49795023-49795152	Hela-S3	cervix:	n/a	chr11:49795070-49795079 chr11:49795068-49795079
13	CEBPB	chr11:49795019-49795235	A549	lung:	n/a	chr11:49795070-49795079 chr11:49795068-49795079 chr11:49795170-49795181 chr11:49795170-49795181
14	CEBPB	chr11:49795006-49795236	HepG2	liver:	n/a	chr11:49795070-49795079 chr11:49795068-49795079 chr11:49795170-49795181 chr11:49795170-49795181
15	CTCF	chr11:49843648-49843704	GM13976	blood:	n/a	n/a
16	CTCF	chr11:49793500-49793588	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr11:49858672-49858701	GM13976	blood:	n/a	n/a
18	CTCF	chr11:49849580-49849652	GM13976	blood:	n/a	n/a
19	CTCF	chr11:49846406-49846454	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr11:49851400-49851423	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:49849334-49849359	LNCaP	prostate:	n/a	n/a
22	CTCF	chr11:49851091-49851158	LNCaP	prostate:	n/a	n/a
23	CTCF	chr11:49846176-49846248	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:49859277-49859302	Medullo	brain:	n/a	n/a
25	CTCF	chr11:49846201-49846278	LNCaP	prostate:	n/a	n/a
26	CTCF	chr11:49851425-49851464	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:49856482-49856608	Medullo	brain:	n/a	n/a
28	CTCF	chr11:49817656-49817713	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr11:49845287-49845339	LNCaP	prostate:	n/a	n/a
30	CTCF	chr11:49849464-49849508	LNCaP	prostate:	n/a	n/a
31	CTCF	chr11:49846188-49846243	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:49827045-49827070	LNCaP	prostate:	n/a	n/a
33	CTCF	chr11:49810246-49810272	GM13976	blood:	n/a	n/a
34	CTCF	chr11:49851088-49851201	GM13976	blood:	n/a	n/a
35	CTCF	chr11:49846180-49846265	LNCaP	prostate:	n/a	n/a
36	CTCF	chr11:49859305-49859335	Medullo	brain:	n/a	n/a
37	CTCF	chr11:49813913-49813935	MCF-7	breast:	n/a	n/a
38	CTCF	chr11:49811386-49811415	GM13976	blood:	n/a	n/a
39	CTCF	chr11:49810273-49810286	GM13976	blood:	n/a	n/a
40	CTCF	chr11:49858636-49858663	GM13976	blood:	n/a	n/a
41	CTCF	chr11:49858342-49858385	LNCaP	prostate:	n/a	n/a
42	CTCF	chr11:49837245-49837320	Lung_OC	lung:	n/a	n/a
43	CTCF	chr11:49851075-49851087	LNCaP	prostate:	n/a	n/a
44	CTCF	chr11:49809001-49809049	MCF-7	breast:	n/a	n/a
45	EBF1	chr11:49844434-49844808	GM12878	blood:	n/a	chr11:49844697-49844710 chr11:49844699-49844708 chr11:49844698-49844708 chr11:49844699-49844708 chr11:49844456-49844466
46	EBF1	chr11:49844397-49844840	GM12878	blood:	n/a	chr11:49844697-49844710 chr11:49844699-49844708 chr11:49844698-49844708 chr11:49844699-49844708 chr11:49844456-49844466
47	EBF1	chr11:49844335-49844888	GM12878	blood:	n/a	chr11:49844697-49844710 chr11:49844699-49844708 chr11:49844698-49844708 chr11:49844699-49844708 chr11:49844456-49844466
48	EP300	chr11:49844462-49844758	GM12878	blood:	n/a	n/a
49	FOXA2	chr11:49802088-49802357	A549	lung:	n/a	n/a
50	FOXA2	chr11:49801870-49802453	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49837219-49837269	GM06990	blood:	n/a
2	chr11:49839836-49839886	ovcar-3	ovarian:	n/a
3	chr11:49836586-49836636	ovcar-3	ovarian:	n/a
4	chr11:49862012-49862062	SKMC	muscle:	n/a
5	chr11:49839836-49839886	H1-hESC	embryonic stem cell:	embryo
6	chr11:49839836-49839886	U87	brain:	n/a
7	chr11:49843431-49843481	HEK293	kidney:	embryo
8	chr11:49837219-49837269	GM12892	blood:	n/a
9	chr11:49837219-49837269	HCM	heart:	n/a
10	chr11:49837219-49837269	ProgFib	skin:	n/a
11	chr11:49837068-49837118	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:49836586-49836636	NHBE	bronchial:	n/a
13	chr11:49802564-49802614	U87	brain:	n/a
14	chr11:49837219-49837269	ECC-1	luminal epithelium:	n/a
15	chr11:49820620-49820670	BE2_C	brain:	n/a
16	chr11:49839836-49839886	AoSMC	blood vessel:	n/a
17	chr11:49839281-49839331	GM12878	blood:	n/a
18	chr11:49838266-49838316	AG04450	lung:	fetal
19	chr11:49837274-49837324	AoSMC	blood vessel:	n/a
20	chr11:49837068-49837118	CMK	blood:	n/a
21	chr11:49843431-49843481	H1-hESC	embryonic stem cell:	embryo
22	chr11:49837068-49837118	RPTEC	kidney:	n/a
23	chr11:49838266-49838316	GM06990	blood:	n/a
24	chr11:49837068-49837118	SAEC	small airway:	n/a
25	chr11:49838266-49838316	MCF-7	breast:	n/a
26	chr11:49839281-49839331	AG09319	gingival:	n/a
27	chr11:49837219-49837269	HepG2	liver:	n/a
28	chr11:49837219-49837269	Hepatocyte	liver:	n/a
29	chr11:49839836-49839886	NHDF-neo	bronchial:	n/a
30	chr11:49802535-49802585	SAEC	small airway:	n/a
31	chr11:49843431-49843481	HL-60	blood:	n/a
32	chr11:49862012-49862062	AG09309	skin:	n/a
33	chr11:49843431-49843481	SK-N-SH_RA	brain:	n/a
34	chr11:49839836-49839886	IMR90	lung:	fetal
35	chr11:49820620-49820670	AoSMC	blood vessel:	n/a
36	chr11:49837068-49837118	HAEpiC	amniotic membrane:	n/a
37	chr11:49843431-49843481	AoSMC	blood vessel:	n/a
38	chr11:49837274-49837324	HepG2	liver:	n/a
39	chr11:49843431-49843481	GM06990	blood:	n/a
40	chr11:49839281-49839331	HNPCEpiC	eye:	n/a
41	chr11:49837274-49837324	T-47D	breast:	n/a
42	chr11:49838266-49838316	NT2-D1	testis:	n/a
43	chr11:49836586-49836636	HepG2	liver:	n/a
44	chr11:49839281-49839331	Caco-2	colon:	n/a
45	chr11:49839281-49839331	NHBE	bronchial:	n/a
46	chr11:49843431-49843481	GM12878	blood:	n/a
47	chr11:49837219-49837269	U87	brain:	n/a
48	chr11:49839836-49839886	BE2_C	brain:	n/a
49	chr11:49820620-49820670	H1-hESC	embryonic stem cell:	embryo
50	chr11:49839281-49839331	ProgFib	skin:	n/a

Variant related genes	Relation type
ENSG00000254487	TF binding region
TRIM51FP	TF binding region
ENSG00000255268	TF binding region
ENSG00000254487	CpG island
TRIM51FP	CpG island
ENSG00000255268	CpG island

Extended variants
information (count: 222 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55900373	chr11:49802210-49802211	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548325855	chr11:49802243-49802244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368539223	chr11:49802257-49802258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568115223	chr11:49802277-49802278	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7131086	chr11:49802283-49802284	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553477823	chr11:49802324-49802325	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374140156	chr11:49802353-49802354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570769029	chr11:49802358-49802359	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539330110	chr11:49802382-49802383	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12805256	chr11:49802385-49802386	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575856287	chr11:49802395-49802396	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7131223	chr11:49802396-49802397	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541579996	chr11:49802408-49802409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148034480	chr11:49802417-49802418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141758449	chr11:49802420-49802421	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553732079	chr11:49802443-49802444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184520200	chr11:49802446-49802447	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189485166	chr11:49802447-49802448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532876211	chr11:49802459-49802460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371714655	chr11:49802470-49802471	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546195416	chr11:49802491-49802492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563169274	chr11:49802526-49802527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181032997	chr11:49802530-49802531	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548757957	chr11:49802531-49802532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs568200577	chr11:49802535-49802536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527377308	chr11:49802536-49802537	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184455584	chr11:49802543-49802544	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570334697	chr11:49802547-49802548	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150559132	chr11:49802549-49802550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs556190754	chr11:49802555-49802556	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs140666224	chr11:49802575-49802576	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs569575841	chr11:49802596-49802597	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558556513	chr11:49802601-49802602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189703815	chr11:49802602-49802603	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181237345	chr11:49802612-49802613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574621653	chr11:49802650-49802651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534020626	chr11:49802651-49802652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554205099	chr11:49802656-49802657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577188396	chr11:49802661-49802662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138544900	chr11:49802680-49802681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs10839373	chr11:49802697-49802698	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10839374	chr11:49802707-49802708	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542485408	chr11:49802718-49802719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568246678	chr11:49802751-49802752	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186180060	chr11:49802762-49802763	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs35171284	chr11:49802769-49802770	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs10839375	chr11:49802774-49802775	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138384326	chr11:49812000-49812001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532232041	chr11:49812001-49812002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563152983	chr11:49812016-49812017	Enhancers	n/a	n/a	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49802200-49802800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:49802400-49802800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:49812000-49812800	Enhancers	Dnd41	blood
4	chr11:49839400-49839600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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