Variant report

Variant	rs4846684
Chromosome Location	chr1:221216907-221216908
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10458466	0.83[EUR][1000 genomes]
rs10458469	0.84[EUR][1000 genomes]
rs10746405	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10863575	0.84[EUR][1000 genomes]
rs10863576	0.83[EUR][1000 genomes]
rs10863577	0.84[EUR][1000 genomes]
rs10863578	0.96[ASN][1000 genomes]
rs11118634	0.83[EUR][1000 genomes]
rs11118635	0.83[EUR][1000 genomes]
rs11118641	0.83[ASN][1000 genomes]
rs11118652	0.81[ASN][1000 genomes]
rs11118653	0.81[ASN][1000 genomes]
rs1596173	0.81[ASN][1000 genomes]
rs17009346	0.83[ASN][1000 genomes]
rs17009398	0.83[ASN][1000 genomes]
rs4142348	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4142351	0.81[ASN][1000 genomes]
rs4391670	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4625285	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4846682	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846683	0.83[EUR][1000 genomes]
rs4846685	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55966903	0.83[ASN][1000 genomes]
rs58513421	0.83[ASN][1000 genomes]
rs61819242	0.81[ASN][1000 genomes]
rs6661535	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6687526	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687905	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6698945	0.81[ASN][1000 genomes]
rs6699300	0.80[ASN][1000 genomes]
rs715300	0.82[ASN][1000 genomes]
rs72742507	0.81[ASN][1000 genomes]
rs7354867	0.81[ASN][1000 genomes]
rs7511784	0.82[ASN][1000 genomes]
rs7512831	0.83[ASN][1000 genomes]
rs7517569	0.89[EUR][1000 genomes]
rs7517729	0.81[ASN][1000 genomes]
rs7523927	0.80[ASN][1000 genomes]
rs7526270	0.81[ASN][1000 genomes]
rs7528865	0.81[AMR][1000 genomes]
rs7542237	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7544056	0.81[ASN][1000 genomes]
rs7554672	0.81[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221209600-221218600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:221209600-221219600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:221213200-221221000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:221213800-221219200	Weak transcription	NHDF-Ad	bronchial
5	chr1:221214000-221219600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:221214400-221219200	Weak transcription	K562	blood
7	chr1:221214400-221219600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:221214600-221218800	Weak transcription	NHLF	lung
9	chr1:221214600-221219600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:221214600-221219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:221214600-221219800	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:221215400-221219600	Weak transcription	Hela-S3	cervix

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