Variant report

Variant	rs817858
Chromosome Location	chr9:110125811-110125812
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs817849	0.84[EUR][1000 genomes]
rs817851	0.84[EUR][1000 genomes]
rs817853	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs817855	1.00[CEU][hapmap]
rs817856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs817859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817861	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs817862	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1042965	chr9:110100745-110126661	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893699	chr9:110107862-110188197	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Body mass index	20966902	GWAS catalog

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110121000-110126000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr9:110124000-110128800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:110125000-110126600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:110125600-110126400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:110125600-110126400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:110125600-110126400	Enhancers	Placenta	Placenta
7	chr9:110125600-110126800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:110125800-110126000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:110125800-110126000	Enhancers	Fetal Muscle Trunk	muscle
10	chr9:110125800-110126000	Enhancers	HMEC	breast
11	chr9:110125800-110126200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:110125800-110126200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:110125800-110126400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:110125800-110126400	Enhancers	Fetal Intestine Large	intestine

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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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