Variant report

Variant	rs1556225
Chromosome Location	chr13:110364493-110364494
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1411552	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1550044	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1928937	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773073	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336416	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7990738	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8000638	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs892672	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs913947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs913952	0.94[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9301407	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9521489	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1556225	ABHD13	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110359000-110367800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:110359800-110368400	Weak transcription	Hela-S3	cervix
3	chr13:110360000-110367800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:110360600-110364600	Weak transcription	K562	blood
5	chr13:110360600-110368000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:110361000-110368200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:110361000-110368200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:110362600-110364600	Weak transcription	Stomach Mucosa	stomach
9	chr13:110363600-110367600	Weak transcription	Liver	Liver
10	chr13:110364200-110364800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:110364200-110365000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:110364400-110364600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:110364400-110364800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:110364400-110364800	Enhancers	Fetal Intestine Large	intestine
15	chr13:110364400-110364800	Genic enhancers	Dnd41	blood
16	chr13:110364400-110365000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:110364400-110365000	Enhancers	Fetal Intestine Small	intestine
18	chr13:110364400-110365000	Enhancers	Fetal Kidney	kidney

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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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