Variant report

Variant	nsv1046221
Chromosome Location	chr11:62838069-62884202
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	chr11:62839561-62839888	GM12878	blood:	n/a	n/a
2	BATF	chr11:62839558-62839815	GM12878	blood:	n/a	n/a
3	BHLHE40	chr11:62848212-62848547	HepG2	liver:	n/a	n/a
4	BHLHE40	chr11:62848327-62848432	K562	blood:	n/a	n/a
5	CBX3	chr11:62867109-62867352	K562	blood:	n/a	n/a
6	CEBPB	chr11:62847843-62848131	A549	lung:	n/a	chr11:62847966-62847979 chr11:62847967-62847978
7	CEBPB	chr11:62847808-62848120	HepG2	liver:	n/a	chr11:62847966-62847979 chr11:62847967-62847978
8	CEBPB	chr11:62847093-62847254	A549	lung:	n/a	chr11:62847199-62847210 chr11:62847199-62847212 chr11:62847201-62847210
9	CEBPB	chr11:62838003-62838326	HepG2	liver:	n/a	chr11:62838171-62838180 chr11:62838169-62838180 chr11:62838169-62838182
10	CEBPB	chr11:62838116-62838273	K562	blood:	n/a	chr11:62838171-62838180 chr11:62838169-62838180 chr11:62838169-62838182
11	CEBPB	chr11:62861262-62861430	HepG2	liver:	n/a	n/a
12	CEBPB	chr11:62838086-62838286	A549	lung:	n/a	chr11:62838171-62838180 chr11:62838169-62838180 chr11:62838169-62838182
13	CTCF	chr11:62839480-62839630	GM12866	blood:	n/a	n/a
14	CTCF	chr11:62881045-62881102	GM20000	blood:	n/a	n/a
15	CTCF	chr11:62882285-62882350	LNCaP	prostate:	n/a	n/a
16	CTCF	chr11:62854632-62854683	Fibrobl	skin:	n/a	n/a
17	CTCF	chr11:62851340-62851490	K562	blood:	n/a	n/a
18	CTCF	chr11:62862577-62862636	Lung_OC	lung:	n/a	n/a
19	E2F4	chr11:62846859-62847589	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:62846950-62847365	MCF10A-Er-Src	breast:	n/a	chr11:62847115-62847125 chr11:62847116-62847124 chr11:62847114-62847126 chr11:62847115-62847125
21	FOS	chr11:62846914-62847365	MCF10A-Er-Src	breast:	n/a	chr11:62847115-62847125 chr11:62847116-62847124 chr11:62847114-62847126 chr11:62847115-62847125
22	FOS	chr11:62847885-62848004	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:62846958-62847353	MCF10A-Er-Src	breast:	n/a	chr11:62847115-62847125 chr11:62847116-62847124 chr11:62847114-62847126 chr11:62847115-62847125
24	FOS	chr11:62846973-62847307	MCF10A-Er-Src	breast:	n/a	chr11:62847115-62847125 chr11:62847116-62847124 chr11:62847114-62847126 chr11:62847115-62847125
25	FOXA2	chr11:62845872-62846437	A549	lung:	n/a	n/a
26	FOXA2	chr11:62845965-62846402	A549	lung:	n/a	n/a
27	KAP1	chr11:62866960-62867541	K562	blood:	n/a	n/a
28	MAFF	chr11:62848630-62848662	K562	blood:	n/a	n/a
29	MAFF	chr11:62848512-62848701	HepG2	liver:	n/a	n/a
30	MAFK	chr11:62848553-62848772	HepG2	liver:	n/a	n/a
31	MAFK	chr11:62848488-62848782	HepG2	liver:	n/a	n/a
32	MYC	chr11:62846931-62847307	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr11:62846972-62847279	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:62871859-62872072	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr11:62883476-62883513	Gliobla	brain:	n/a	n/a
36	POLR2A	chr11:62883458-62883459	Gliobla	brain:	n/a	n/a
37	POLR2A	chr11:62868501-62868546	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:62854695-62854749	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:62873796-62873872	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:62871476-62871852	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr11:62854716-62854766	MCF-7	breast:	n/a	n/a
42	POLR2A	chr11:62854751-62854800	MCF-7	breast:	n/a	n/a
43	POLR2A	chr11:62881553-62881673	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:62848721-62848767	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr11:62854666-62854691	MCF-7	breast:	n/a	n/a
46	RXRA	chr11:62881494-62881726	HepG2	liver:	n/a	n/a
47	RXRA	chr11:62880925-62881104	HepG2	liver:	n/a	n/a
48	SETDB1	chr11:62866450-62867663	K562	blood:	n/a	n/a
49	SETDB1	chr11:62867084-62867653	U2OS	brain:	n/a	n/a
50	SP1	chr11:62856465-62856654	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62851942..62854202-chr11:62871987..62874309,2	K562	blood:
2	chr11:62848664..62851040-chr11:62854770..62857085,2	MCF-7	breast:
3	chr11:62848664..62851040-chr11:62854770..62857085,2	MCF-7	breast:
4	chr11:62851942..62854202-chr11:62871987..62874309,2	K562	blood:

Variant related genes	Relation type
RPL29P22	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544004260	chr11:62848010-62848011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114753444	chr11:62848021-62848022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532922948	chr11:62848033-62848034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546571739	chr11:62848034-62848035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559921438	chr11:62848039-62848040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35839122	chr11:62848053-62848054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529317001	chr11:62848069-62848070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116618100	chr11:62848070-62848071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549662424	chr11:62848087-62848088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569575412	chr11:62848116-62848117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538402032	chr11:62848135-62848136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34936614	chr11:62848165-62848166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551728297	chr11:62848181-62848182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111597569	chr11:62848184-62848185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148836630	chr11:62848186-62848187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188222815	chr11:62848189-62848190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565967566	chr11:62848216-62848217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536270930	chr11:62848254-62848255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555194054	chr11:62848315-62848316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575182847	chr11:62848318-62848319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369807279	chr11:62848342-62848343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531515623	chr11:62848366-62848367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10897341	chr11:62848367-62848368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577645435	chr11:62848381-62848382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376649497	chr11:62848413-62848414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11231340	chr11:62848445-62848446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11231341	chr11:62848487-62848488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75726395	chr11:62848517-62848518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370756811	chr11:62848518-62848519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373626890	chr11:62848534-62848535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11231342	chr11:62848568-62848569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142507239	chr11:62848585-62848586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571785330	chr11:62848589-62848590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537781152	chr11:62854861-62854862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117311387	chr11:62854917-62854918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374039638	chr11:62854925-62854926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186137346	chr11:62854936-62854937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557195624	chr11:62854990-62854991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140977572	chr11:62855023-62855024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547374736	chr11:62855025-62855026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7927104	chr11:62855031-62855032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536266635	chr11:62855066-62855067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548957476	chr11:62855105-62855106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11231347	chr11:62855111-62855112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537634051	chr11:62855209-62855210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375519686	chr11:62855219-62855220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557977371	chr11:62855224-62855225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150211619	chr11:62855225-62855226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138727273	chr11:62855284-62855285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533909364	chr11:62855374-62855375	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62848000-62848600	Enhancers	HepG2	liver
2	chr11:62854800-62855400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:62855000-62855400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:62863400-62864200	Enhancers	Gastric	stomach
5	chr11:62863600-62864000	Enhancers	Fetal Intestine Large	intestine
6	chr11:62873800-62874000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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