Variant report

Variant	rs2382550
Chromosome Location	chr9:16003503-16003504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12682932	1.00[YRI][hapmap]
rs12683980	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12684042	0.86[AFR][1000 genomes]
rs12684919	0.86[AFR][1000 genomes]
rs12685476	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs12686591	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs1328266	0.94[AFR][1000 genomes]
rs1328267	0.94[AFR][1000 genomes]
rs1328268	0.94[AFR][1000 genomes]
rs1576170	0.89[EUR][1000 genomes]
rs16933814	0.90[YRI][hapmap]
rs2026660	0.89[AFR][1000 genomes]
rs2066291	1.00[YRI][hapmap]
rs2987082	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987097	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3008718	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3008720	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3008721	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3008722	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3008724	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3008725	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3124457	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6475000	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7040928	0.82[AFR][1000 genomes]
rs7044984	0.90[YRI][hapmap]
rs7866472	1.00[YRI][hapmap]
rs7866699	1.00[YRI][hapmap]
rs7867018	1.00[YRI][hapmap]

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	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv892637	chr9:15926508-16060746	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv949463	chr9:15970668-16377360	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv831521	chr9:15974174-16106565	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15999000-16003600	Enhancers	HMEC	breast
2	chr9:15999800-16003600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:15999800-16003600	Enhancers	Osteobl	bone
4	chr9:15999800-16003800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:16000200-16003600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr9:16000200-16010400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:16000600-16003800	Weak transcription	HSMM	muscle
8	chr9:16001600-16011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:16002400-16012800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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