Variant report

Variant	rs12114452
Chromosome Location	chr8:11502515-11502516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12674847	0.95[ASN][1000 genomes]
rs17153585	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2898283	0.91[ASN][1000 genomes]
rs4841576	0.95[ASN][1000 genomes]
rs899368	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12114452	FLJ10661	cis	cerebellum	SCAN
rs12114452	MFHAS1	cis	cerebellum	SCAN
rs12114452	CTSB	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11500000-11502600	Enhancers	Primary B cells from cord blood	blood
2	chr8:11500000-11502800	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:11500400-11503400	Weak transcription	Right Atrium	heart
4	chr8:11500600-11503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:11500600-11504200	Enhancers	Fetal Heart	heart
6	chr8:11500800-11503400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:11501000-11502600	Enhancers	Brain Germinal Matrix	brain
8	chr8:11501000-11503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:11501400-11504000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:11501600-11503400	Weak transcription	Ovary	ovary
11	chr8:11501800-11503200	Weak transcription	Right Ventricle	heart
12	chr8:11502200-11504600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:11502400-11503400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:11502400-11509000	Weak transcription	Gastric	stomach
15	chr8:11502400-11515400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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