Variant report

Variant	rs10808541
Chromosome Location	chr8:125836335-125836336
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11778381	0.89[CHB][hapmap]
rs7461114	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7462735	0.89[CHB][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10808541	KLHL38	cis	parietal	SCAN
rs10808541	ANXA13	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125833600-125837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125835200-125836800	Enhancers	K562	blood
3	chr8:125835400-125836400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:125835400-125836400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:125835600-125836400	Enhancers	Psoas Muscle	Psoas
6	chr8:125835600-125836400	Enhancers	Right Atrium	heart
7	chr8:125835600-125836400	Enhancers	Right Ventricle	heart
8	chr8:125835600-125836600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:125835600-125836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:125835800-125836400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:125836000-125837000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:125836200-125836400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:125836200-125836400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:125836200-125836400	Enhancers	Spleen	Spleen
15	chr8:125836200-125836800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:125836200-125837000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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