Variant report

Variant	rs514669
Chromosome Location	chr13:30600808-30600809
allele	C/T
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	MXI1	chr13:30599591-30601296	IMR90	lung:	n/a	n/a
2	MAZ	chr13:30600792-30600906	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000266505	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11147408	0.89[ASN][1000 genomes]
rs12430614	0.89[ASN][1000 genomes]
rs12583931	0.89[ASN][1000 genomes]
rs7333375	0.89[ASN][1000 genomes]
rs7994485	0.82[TSI][hapmap]
rs9578154	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3410550	chr13:30598652-30602150	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs514669	FLT3	cis	parietal	SCAN
rs514669	ALOX5AP	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:30598600-30601000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:30598600-30605000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:30599200-30602800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:30599200-30602800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:30599200-30602800	Enhancers	NHDF-Ad	bronchial
8	chr13:30599200-30602800	Enhancers	Osteobl	bone
9	chr13:30599400-30601200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:30599400-30602600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:30599600-30601000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:30599800-30611600	Weak transcription	Fetal Brain Male	brain
13	chr13:30600400-30602600	Enhancers	HepG2	liver
14	chr13:30600600-30601800	Enhancers	Fetal Intestine Small	intestine
15	chr13:30600600-30602000	Enhancers	Fetal Intestine Large	intestine
16	chr13:30600800-30601800	Weak transcription	NH-A	brain
17	chr13:30600800-30602000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:30600800-30602000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:30600800-30607000	Weak transcription	NHLF	lung
20	chr13:30600800-30607200	Weak transcription	HSMM	muscle
21	chr13:30600800-30607200	Weak transcription	HSMMtube	muscle

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