Variant report

Variant	rs11014049
Chromosome Location	chr10:18686452-18686453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10828666	0.89[ASN][1000 genomes]
rs11014016	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11014021	0.98[ASN][1000 genomes]
rs11014166	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16917367	1.00[JPT][hapmap]
rs16917369	1.00[JPT][hapmap]
rs16917375	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6482384	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66677106	0.91[ASN][1000 genomes]
rs67117524	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7069531	0.88[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7091067	0.81[ASN][1000 genomes]
rs976785	0.89[ASN][1000 genomes]
rs998229	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550041	chr10:18671921-18686452	Enhancers Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
2	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11014049	RPP38	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18669000-18689400	Weak transcription	Left Ventricle	heart
2	chr10:18679400-18689200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:18682800-18689000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:18684000-18689000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:18684000-18689200	Weak transcription	Brain Anterior Caudate	brain
6	chr10:18684200-18689000	Weak transcription	Fetal Kidney	kidney
7	chr10:18684200-18689000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:18684400-18689200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr10:18684800-18686800	Weak transcription	Fetal Heart	heart
10	chr10:18686200-18687000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr10:18686400-18689000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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