Variant report

Variant	rs505918
Chromosome Location	chr15:55400649-55400650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11071165	0.94[CEU][hapmap]
rs11071167	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572030	0.80[EUR][1000 genomes]
rs28797222	0.80[EUR][1000 genomes]
rs489055	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs489105	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs491004	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs493244	0.96[ASN][1000 genomes]
rs541608	0.94[ASN][1000 genomes]
rs541635	0.94[ASN][1000 genomes]
rs549231	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs551093	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62018201	0.94[ASN][1000 genomes]
rs7178925	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats 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
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv457156	chr15:55400649-55466155	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv569521	chr15:55400649-55466155	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs505918	MYO1B	trans	lymphoblastoid	seeQTL
rs505918	RAB27A	Cis_1M	lymphoblastoid	RTeQTL
rs505918	BCAS3	trans	lymphoblastoid	seeQTL
rs505918	RAB27A	cis	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55399800-55401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:55400200-55401000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:55400200-55401000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:55400400-55400800	Enhancers	Right Atrium	heart
5	chr15:55400400-55401000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:55400400-55401000	Enhancers	Brain Germinal Matrix	brain
7	chr15:55400400-55401000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr15:55400400-55401000	Enhancers	Fetal Kidney	kidney
9	chr15:55400400-55401800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:55400400-55401800	Enhancers	K562	blood
11	chr15:55400600-55400800	Enhancers	Brain Cingulate Gyrus	brain
12	chr15:55400600-55400800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr15:55400600-55401000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:55400600-55401000	Enhancers	Fetal Muscle Leg	muscle
15	chr15:55400600-55401600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:55400600-55401800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr15:55400600-55402600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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