Variant report

Variant	nsv975174
Chromosome Location	chr11:49039206-49083950
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	CTCF	chr11:49067670-49067676	GM13976	blood:	n/a	n/a
2	CTCF	chr11:49053116-49053137	LNCaP	prostate:	n/a	n/a
3	CTCF	chr11:49071434-49071865	K562	blood:	n/a	n/a
4	CTCF	chr11:49080840-49080919	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr11:49067101-49067189	GM13977	blood:	n/a	n/a
6	CTCF	chr11:49067615-49067665	GM13976	blood:	n/a	n/a
7	CTCF	chr11:49071437-49071480	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr11:49071540-49071761	LNCaP	prostate:	n/a	n/a
9	CTCF	chr11:49070398-49070685	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
10	CTCF	chr11:49052021-49052104	GM13976	blood:	n/a	n/a
11	CTCF	chr11:49070501-49070571	Pancreas_OC	pancreas:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
12	CTCF	chr11:49048171-49048237	GM20000	blood:	n/a	n/a
13	CTCF	chr11:49071985-49072040	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:49061169-49061228	GM13977	blood:	n/a	n/a
15	CTCF	chr11:49048063-49048097	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr11:49070401-49070689	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
17	CTCF	chr11:49071340-49071490	HEK293	kidney:	n/a	n/a
18	CTCF	chr11:49067908-49067939	LNCaP	prostate:	n/a	n/a
19	CTCF	chr11:49070476-49070576	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
20	CTCF	chr11:49050048-49050098	GM13976	blood:	n/a	n/a
21	CTCF	chr11:49071523-49071763	K562	blood:	n/a	n/a
22	CTCF	chr11:49070403-49070741	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
23	FOSL2	chr11:49080198-49080444	HepG2	liver:	n/a	n/a
24	GTF2F1	chr11:49082600-49082627	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAFF	chr11:49044338-49044603	HepG2	liver:	n/a	n/a
26	MAFK	chr11:49082489-49082741	HepG2	liver:	n/a	chr11:49082665-49082676
27	MAFK	chr11:49041650-49041849	HepG2	liver:	n/a	n/a
28	MAFK	chr11:49044405-49044513	Hela-S3	cervix:	n/a	chr11:49044441-49044452 chr11:49044439-49044453 chr11:49044441-49044452 chr11:49044436-49044452 chr11:49044431-49044451 chr11:49044437-49044447 chr11:49044440-49044451 chr11:49044436-49044451 chr11:49044438-49044447
29	MAFK	chr11:49044384-49044603	HepG2	liver:	n/a	chr11:49044441-49044452 chr11:49044439-49044453 chr11:49044441-49044452 chr11:49044436-49044452 chr11:49044431-49044451 chr11:49044437-49044447 chr11:49044440-49044451 chr11:49044436-49044451 chr11:49044438-49044447
30	MAFK	chr11:49041643-49041942	HepG2	liver:	n/a	n/a
31	MAFK	chr11:49082560-49082673	HepG2	liver:	n/a	n/a
32	MAFK	chr11:49044343-49044605	HepG2	liver:	n/a	chr11:49044441-49044452 chr11:49044439-49044453 chr11:49044441-49044452 chr11:49044436-49044452 chr11:49044431-49044451 chr11:49044437-49044447 chr11:49044440-49044451 chr11:49044436-49044451 chr11:49044438-49044447
33	MAFK	chr11:49044392-49044583	IMR90	lung:	n/a	chr11:49044441-49044452 chr11:49044439-49044453 chr11:49044441-49044452 chr11:49044436-49044452 chr11:49044431-49044451 chr11:49044437-49044447 chr11:49044440-49044451 chr11:49044436-49044451 chr11:49044438-49044447
34	MYC	chr11:49041386-49041477	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:49059966-49060166	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:49053492-49053521	A549	lung:	n/a	n/a
37	POLR2A	chr11:49043277-49043287	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:49041387-49041515	A549	lung:	n/a	n/a
39	POLR2A	chr11:49076922-49077043	MCF10A-Er-Src	breast:	n/a	n/a
40	REST	chr11:49069843-49069980	Hela-S3	cervix:	n/a	chr11:49069949-49069958 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069950-49069968 chr11:49069949-49069969
41	REST	chr11:49069725-49070132	HepG2	liver:	n/a	chr11:49069949-49069958 chr11:49070071-49070084 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069747-49069757 chr11:49069950-49069968 chr11:49069949-49069969
42	REST	chr11:49069850-49070082	K562	blood:	n/a	chr11:49069949-49069958 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069950-49069968 chr11:49069949-49069969
43	REST	chr11:49069767-49070106	SK-N-SH	brain:	n/a	chr11:49069949-49069958 chr11:49070071-49070084 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069950-49069968 chr11:49069949-49069969
44	REST	chr11:49070301-49070567	HepG2	liver:	n/a	n/a
45	REST	chr11:49069797-49070053	GM12878	blood:	n/a	chr11:49069949-49069958 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069950-49069968 chr11:49069949-49069969
46	REST	chr11:49069814-49070080	HepG2	liver:	n/a	chr11:49069949-49069958 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069950-49069968 chr11:49069949-49069969
47	REST	chr11:49069778-49070136	U87	brain:	n/a	chr11:49069949-49069958 chr11:49070071-49070084 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069950-49069968 chr11:49069949-49069969
48	REST	chr11:49069757-49070099	A549	lung:	n/a	chr11:49069949-49069958 chr11:49070071-49070084 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069950-49069968 chr11:49069949-49069969
49	REST	chr11:49069733-49070302	H1-hESC	embryonic stem cell:	n/a	chr11:49069949-49069958 chr11:49070071-49070084 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069747-49069757 chr11:49069950-49069968 chr11:49069949-49069969
50	REST	chr11:49069798-49070121	GM12878	blood:	n/a	chr11:49069949-49069958 chr11:49070071-49070084 chr11:49069954-49069963 chr11:49069949-49069969 chr11:49069955-49069969 chr11:49069949-49069969 chr11:49069952-49069965 chr11:49069950-49069968 chr11:49069949-49069969

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49081540-49081590	Caco-2	colon:	n/a
2	chr11:49073835-49073885	SK-N-SH_RA	brain:	n/a
3	chr11:49070005-49070055	GM19239	blood:	n/a
4	chr11:49081540-49081590	Caco-2	colon:	n/a
5	chr11:49073835-49073885	SK-N-SH_RA	brain:	n/a
6	chr11:49070005-49070055	GM19239	blood:	n/a
7	chr11:49049039-49049089	ProgFib	skin:	n/a
8	chr11:49073835-49073885	U87	brain:	n/a
9	chr11:49049039-49049089	HRPEpiC	eye:	n/a
10	chr11:49071438-49071488	HAEpiC	amniotic membrane:	n/a
11	chr11:49049039-49049089	Jurkat	blood:	n/a
12	chr11:49071763-49071813	PrEC	prostate:	n/a
13	chr11:49071438-49071488	U87	brain:	n/a
14	chr11:49071763-49071813	U87	brain:	n/a
15	chr11:49081540-49081590	AG09319	gingival:	n/a
16	chr11:49070231-49070281	PANC-1	pancreas:	n/a
17	chr11:49071438-49071488	A549	lung:	n/a
18	chr11:49072348-49072398	ovcar-3	ovarian:	n/a
19	chr11:49071438-49071488	NHBE	bronchial:	n/a
20	chr11:49072348-49072398	HRE	kidney:	n/a
21	chr11:49081540-49081590	Jurkat	blood:	n/a
22	chr11:49081540-49081590	IMR90	lung:	fetal
23	chr11:49073835-49073885	HepG2	liver:	n/a
24	chr11:49070231-49070281	K562	blood:	n/a
25	chr11:49071763-49071813	AoSMC	blood vessel:	n/a
26	chr11:49073835-49073885	AG09309	skin:	n/a
27	chr11:49068653-49068703	Caco-2	colon:	n/a
28	chr11:49070005-49070055	IMR90	lung:	fetal
29	chr11:49070005-49070055	HEEpiC	esophagus:	n/a
30	chr11:49072348-49072398	BE2_C	brain:	n/a
31	chr11:49070231-49070281	HEEpiC	esophagus:	n/a
32	chr11:49049039-49049089	K562	blood:	n/a
33	chr11:49070231-49070281	NB4	blood:	n/a
34	chr11:49073835-49073885	AoSMC	blood vessel:	n/a
35	chr11:49081540-49081590	AG04449	skin:	fetal
36	chr11:49070005-49070055	PFSK-1	brain:	n/a
37	chr11:49073835-49073885	ovcar-3	ovarian:	n/a
38	chr11:49073835-49073885	NB4	blood:	n/a
39	chr11:49068653-49068703	T-47D	breast:	n/a
40	chr11:49070231-49070281	GM12878	blood:	n/a
41	chr11:49081540-49081590	HEK293	kidney:	embryo
42	chr11:49068653-49068703	SK-N-SH_RA	brain:	n/a
43	chr11:49072348-49072398	ECC-1	luminal epithelium:	n/a
44	chr11:49081540-49081590	PFSK-1	brain:	n/a
45	chr11:49049039-49049089	AG10803	skin:	n/a
46	chr11:49073835-49073885	Hela-S3	cervix:	n/a
47	chr11:49071438-49071488	BE2_C	brain:	n/a
48	chr11:49073835-49073885	HRCEpiC	kidney:	n/a
49	chr11:49049039-49049089	Caco-2	colon:	n/a
50	chr11:49049039-49049089	NB4	blood:	n/a

Variant related genes	Relation type
ENSG00000205044	TF binding region
TRIM49B	TF binding region
TRIM64C	TF binding region
ENSG00000205044	CpG island
TRIM49B	CpG island
TRIM64C	CpG island

Extended variants
information (count: 63 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147565488	chr11:49041392-49041393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534707784	chr11:49041410-49041411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551709573	chr11:49041426-49041427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571662106	chr11:49041429-49041430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374710256	chr11:49041431-49041432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531292984	chr11:49041435-49041436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557607858	chr11:49041510-49041511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534528203	chr11:49041647-49041648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs58773301	chr11:49041655-49041656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187720982	chr11:49041656-49041657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs115756449	chr11:49041667-49041668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs368306851	chr11:49041740-49041741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs4244800	chr11:49041750-49041751	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546539408	chr11:49041762-49041763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs113787745	chr11:49041811-49041812	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372934782	chr11:49041816-49041817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192873164	chr11:49041835-49041836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs571024552	chr11:49041849-49041850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs560021827	chr11:49041855-49041856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs200116282	chr11:49041880-49041881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184954244	chr11:49041900-49041901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs375795513	chr11:49041934-49041935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs28566857	chr11:49046112-49046113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs28726143	chr11:49046138-49046139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs546316235	chr11:49046179-49046180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs7128740	chr11:49046192-49046193	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185720553	chr11:49046194-49046195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190678809	chr11:49046219-49046220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369025536	chr11:49046221-49046222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561911658	chr11:49046225-49046226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs28722556	chr11:49046235-49046236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528008777	chr11:49046290-49046291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs564104915	chr11:49048097-49048098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs79539328	chr11:49048186-49048187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs3781713	chr11:49048198-49048199	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs142139205	chr11:49048213-49048214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs545064858	chr11:49048235-49048236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529966415	chr11:49049040-49049041	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs529423767	chr11:49049041-49049042	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs540506299	chr11:49049068-49049069	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs59376369	chr11:49049071-49049072	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs528480806	chr11:49049074-49049075	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs551437288	chr11:49049081-49049082	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs367804130	chr11:49071412-49071413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs538917063	chr11:49071434-49071435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs558838186	chr11:49071436-49071437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575390788	chr11:49071445-49071446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs367964185	chr11:49071446-49071447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs544403035	chr11:49071480-49071481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141304279	chr11:49071489-49071490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49071400-49071600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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