Variant report

Variant	esv1813597
Chromosome Location	chr11:49040780-49049384
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	chr11:49048063-49048097	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr11:49048171-49048237	GM20000	blood:	n/a	n/a
3	MAFF	chr11:49044338-49044603	HepG2	liver:	n/a	n/a
4	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
5	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
6	MAFK	chr11:49041650-49041849	HepG2	liver:	n/a	n/a
7	MAFK	chr11:49041643-49041942	HepG2	liver:	n/a	n/a
8	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
9	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
10	MYC	chr11:49041386-49041477	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:49041387-49041515	A549	lung:	n/a	n/a
12	POLR2A	chr11:49043277-49043287	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr11:49046106-49046315	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49049039-49049089	AG04449	skin:	fetal
2	chr11:49049039-49049089	CMK	blood:	n/a
3	chr11:49049039-49049089	LNCaP	prostate:	n/a
4	chr11:49049039-49049089	NT2-D1	testis:	n/a
5	chr11:49049039-49049089	MCF10A-Er-Src	breast:	n/a
6	chr11:49049039-49049089	GM12892	blood:	n/a
7	chr11:49049039-49049089	NHBE	bronchial:	n/a
8	chr11:49049039-49049089	SK-N-MC	brain:	n/a
9	chr11:49049039-49049089	HRPEpiC	eye:	n/a
10	chr11:49049039-49049089	HRCEpiC	kidney:	n/a
11	chr11:49049039-49049089	SK-N-SH	brain:	n/a
12	chr11:49049039-49049089	HCM	heart:	n/a
13	chr11:49049039-49049089	PFSK-1	brain:	n/a
14	chr11:49049039-49049089	HAEpiC	amniotic membrane:	n/a
15	chr11:49049039-49049089	Jurkat	blood:	n/a
16	chr11:49049039-49049089	GM06990	blood:	n/a
17	chr11:49049039-49049089	HEK293	kidney:	embryo
18	chr11:49049039-49049089	HCPEpiC	choroid plexus:	n/a
19	chr11:49049039-49049089	HMEC	breast:	n/a
20	chr11:49049039-49049089	HCT-116	colon:	n/a
21	chr11:49049039-49049089	AG04450	lung:	fetal
22	chr11:49049039-49049089	Hela-S3	cervix:	n/a
23	chr11:49049039-49049089	SK-N-SH_RA	brain:	n/a
24	chr11:49049039-49049089	HUVEC	blood vessel:	n/a
25	chr11:49049039-49049089	GM12878	blood:	n/a
26	chr11:49049039-49049089	HCF	heart:	n/a
27	chr11:49049039-49049089	HepG2	liver:	n/a
28	chr11:49049039-49049089	SKMC	muscle:	n/a
29	chr11:49049039-49049089	HNPCEpiC	eye:	n/a
30	chr11:49049039-49049089	BE2_C	brain:	n/a
31	chr11:49049039-49049089	PrEC	prostate:	n/a
32	chr11:49049039-49049089	A549	lung:	n/a
33	chr11:49049039-49049089	H1-hESC	embryonic stem cell:	embryo
34	chr11:49049039-49049089	K562	blood:	n/a
35	chr11:49049039-49049089	GM12891	blood:	n/a
36	chr11:49049039-49049089	AG10803	skin:	n/a
37	chr11:49049039-49049089	ECC-1	luminal epithelium:	n/a
38	chr11:49049039-49049089	NHDF-neo	bronchial:	n/a
39	chr11:49049039-49049089	ProgFib	skin:	n/a
40	chr11:49049039-49049089	T-47D	breast:	n/a
41	chr11:49049039-49049089	RPTEC	kidney:	n/a
42	chr11:49049039-49049089	Hepatocyte	liver:	n/a
43	chr11:49049039-49049089	IMR90	lung:	fetal
44	chr11:49049039-49049089	HRE	kidney:	n/a
45	chr11:49049039-49049089	PANC-1	pancreas:	n/a
46	chr11:49049039-49049089	ovcar-3	ovarian:	n/a
47	chr11:49049039-49049089	NH-A	brain:	n/a
48	chr11:49049039-49049089	SAEC	small airway:	n/a
49	chr11:49049039-49049089	AG09309	skin:	n/a
50	chr11:49049039-49049089	HIPEpiC	eye:	n/a

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

Extended variants
information (count: 43 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

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

Variant related diseases (count:47)

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

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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