Variant report

Variant	rs504418
Chromosome Location	chr1:93506290-93506291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11164860	0.88[ASN][1000 genomes]
rs11164861	0.86[ASN][1000 genomes]
rs12022729	0.96[ASN][1000 genomes]
rs12023767	0.96[ASN][1000 genomes]
rs12027025	0.96[ASN][1000 genomes]
rs12039256	0.96[ASN][1000 genomes]
rs12043577	0.96[ASN][1000 genomes]
rs12119421	0.94[ASN][1000 genomes]
rs12130551	0.86[ASN][1000 genomes]
rs12134501	0.96[ASN][1000 genomes]
rs12141895	0.96[ASN][1000 genomes]
rs1678778	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086312	0.86[ASN][1000 genomes]
rs2253595	0.96[ASN][1000 genomes]
rs2492898	0.95[ASN][1000 genomes]
rs2928183	0.87[ASN][1000 genomes]
rs4626900	0.94[ASN][1000 genomes]
rs4847227	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs485336	0.96[ASN][1000 genomes]
rs486370	0.87[ASN][1000 genomes]
rs492054	0.87[ASN][1000 genomes]
rs492754	0.87[ASN][1000 genomes]
rs496465	0.88[ASN][1000 genomes]
rs497540	0.89[ASN][1000 genomes]
rs517856	0.93[ASN][1000 genomes]
rs521527	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524045	0.95[ASN][1000 genomes]
rs553396	0.88[ASN][1000 genomes]
rs557812	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56320266	0.85[ASN][1000 genomes]
rs572131	0.87[ASN][1000 genomes]
rs57478994	0.95[ASN][1000 genomes]
rs590296	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591820	0.89[ASN][1000 genomes]
rs591868	0.89[ASN][1000 genomes]
rs592751	0.89[ASN][1000 genomes]
rs664524	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664852	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6674738	0.85[ASN][1000 genomes]
rs680285	0.95[ASN][1000 genomes]
rs808833	0.94[ASN][1000 genomes]
rs9787147	0.95[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	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
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93499800-93507800	Weak transcription	K562	blood
2	chr1:93500400-93507800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:93501600-93507600	Weak transcription	Thymus	Thymus
4	chr1:93502400-93506600	Weak transcription	HepG2	liver
5	chr1:93503800-93507800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:93504000-93507600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:93504000-93507600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:93504600-93507400	Weak transcription	Primary T cells from cord blood	blood
9	chr1:93504800-93507400	Weak transcription	GM12878-XiMat	blood
10	chr1:93504800-93507600	Weak transcription	Fetal Thymus	thymus
11	chr1:93505000-93506600	Weak transcription	Dnd41	blood

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