Variant report

Variant	rs685220
Chromosome Location	chr3:138847358-138847359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1105251	1.00[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs1521557	0.82[CEU][hapmap]
rs2030471	1.00[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs2737735	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs595352	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs661149	1.00[CEU][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs673174	0.89[EUR][1000 genomes]
rs6790703	0.80[EUR][1000 genomes]
rs688964	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs939646	1.00[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs940187	1.00[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs940188	1.00[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs940189	0.95[CEU][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs940190	0.95[CEU][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	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138839400-138849200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138841800-138849000	Weak transcription	Pancreas	Pancrea
3	chr3:138843400-138849200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:138845200-138848000	Enhancers	NHDF-Ad	bronchial
5	chr3:138845600-138847600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:138845600-138848000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:138845600-138849400	Enhancers	HSMM	muscle
8	chr3:138845800-138847400	Enhancers	HMEC	breast
9	chr3:138846200-138847800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:138846400-138847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:138846400-138847400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:138846400-138847400	Weak transcription	K562	blood
13	chr3:138847000-138847400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:138847000-138847400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:138847200-138847800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:138847200-138847800	Enhancers	Osteobl	bone
17	chr3:138847200-138848800	Enhancers	HSMMtube	muscle

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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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