Variant report

Variant	nsv825883
Chromosome Location	chr11:49040853-49045472
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	MAFF	chr11:49044338-49044603	HepG2	liver:	n/a	n/a
2	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
3	MAFK	chr11:49041643-49041942	HepG2	liver:	n/a	n/a
4	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
5	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
6	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
7	MAFK	chr11:49041650-49041849	HepG2	liver:	n/a	n/a
8	MYC	chr11:49041386-49041477	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:49043277-49043287	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:49041387-49041515	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000205044	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:22 , 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

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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