Variant report

Variant	rs2390607
Chromosome Location	chr4:124842500-124842501
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1347189	0.81[ASN][1000 genomes]
rs1469718	0.81[ASN][1000 genomes]
rs1469720	0.81[ASN][1000 genomes]
rs17007605	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1821308	0.90[ASN][1000 genomes]
rs2116985	0.81[ASN][1000 genomes]
rs2163876	0.81[CHB][hapmap]
rs28525675	0.96[ASN][1000 genomes]
rs3097929	0.90[ASN][1000 genomes]
rs3097931	0.81[ASN][1000 genomes]
rs3113377	0.92[ASN][1000 genomes]
rs3113378	0.89[ASN][1000 genomes]
rs6838706	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv432623	chr4:124780908-124851395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv879875	chr4:124821888-124904592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2390607	KIAA1109	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124837200-124845800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:124840000-124857800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:124840800-124844000	Weak transcription	Fetal Intestine Large	intestine
4	chr4:124841000-124842600	Weak transcription	HUVEC	blood vessel
5	chr4:124841000-124849400	Weak transcription	Aorta	Aorta
6	chr4:124841200-124851200	Weak transcription	Left Ventricle	heart
7	chr4:124842400-124842600	Enhancers	Fetal Muscle Leg	muscle
8	chr4:124842400-124843400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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Input of quick search could be:

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

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