Variant report

Variant	rs2928183
Chromosome Location	chr1:93477292-93477293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93477075..93479957-chr1:93501163..93503966,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11164860	0.96[ASN][1000 genomes]
rs11164861	0.99[ASN][1000 genomes]
rs12022729	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12023767	0.81[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs12027025	0.87[ASN][1000 genomes]
rs12039256	0.87[ASN][1000 genomes]
rs12043007	0.87[CHB][hapmap]
rs12043577	0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs12119421	0.86[ASN][1000 genomes]
rs12130551	0.99[ASN][1000 genomes]
rs12134501	0.87[ASN][1000 genomes]
rs12141895	0.87[ASN][1000 genomes]
rs1678778	0.87[ASN][1000 genomes]
rs2086312	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2253595	0.85[ASN][1000 genomes]
rs2492898	0.86[ASN][1000 genomes]
rs4626900	0.87[ASN][1000 genomes]
rs4847227	0.88[ASN][1000 genomes]
rs485336	0.87[ASN][1000 genomes]
rs486370	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492054	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs492754	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs496465	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs497540	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs504418	0.87[ASN][1000 genomes]
rs517856	0.85[ASN][1000 genomes]
rs521527	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs524045	0.88[ASN][1000 genomes]
rs553396	0.84[ASN][1000 genomes]
rs557812	0.86[ASN][1000 genomes]
rs56320266	0.98[ASN][1000 genomes]
rs572131	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57478994	0.88[ASN][1000 genomes]
rs590296	0.87[ASN][1000 genomes]
rs591820	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs591868	0.97[ASN][1000 genomes]
rs592751	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs664524	0.85[ASN][1000 genomes]
rs664852	0.86[ASN][1000 genomes]
rs6674738	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs680285	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs808833	0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs9787147	0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93471600-93478000	Weak transcription	GM12878-XiMat	blood
2	chr1:93474000-93478800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:93474200-93478800	Weak transcription	HSMMtube	muscle
4	chr1:93474200-93479000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:93474200-93490600	Weak transcription	K562	blood
6	chr1:93474400-93478200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:93477200-93477400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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