Variant report

Variant	rs71645861
Chromosome Location	chr1:47785581-47785582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47778166..47781558-chr1:47781655..47786926,8	K562	blood:
2	chr1:47776996..47781717-chr1:47782920..47788458,9	K562	blood:

Variant related genes	Relation type
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1044457	0.81[ASN][1000 genomes]
rs11211510	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11211511	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11211517	0.86[EUR][1000 genomes]
rs12118514	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12121831	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12125261	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12126139	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12127982	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12138072	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12141060	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12562561	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12730819	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12731806	0.81[ASN][1000 genomes]
rs12732050	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12732410	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12743643	0.91[ASN][1000 genomes]
rs12743877	0.85[EUR][1000 genomes]
rs17370337	0.81[ASN][1000 genomes]
rs17452995	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2472725	0.82[EUR][1000 genomes]
rs2622926	0.82[ASN][1000 genomes]
rs2742081	0.83[EUR][1000 genomes]
rs2821093	0.82[EUR][1000 genomes]
rs2821096	0.83[EUR][1000 genomes]
rs3122607	0.82[EUR][1000 genomes]
rs3122611	0.82[EUR][1000 genomes]
rs3122615	0.82[EUR][1000 genomes]
rs3122619	0.80[EUR][1000 genomes]
rs3122620	0.82[EUR][1000 genomes]
rs3122623	0.82[EUR][1000 genomes]
rs3125624	0.82[EUR][1000 genomes]
rs3125628	0.85[EUR][1000 genomes]
rs3125630	0.81[EUR][1000 genomes]
rs3125632	0.82[EUR][1000 genomes]
rs3125633	0.83[EUR][1000 genomes]
rs3125639	0.84[EUR][1000 genomes]
rs3125640	0.84[EUR][1000 genomes]
rs34400183	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34952704	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35711761	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35774681	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35880845	0.82[EUR][1000 genomes]
rs3925058	0.83[EUR][1000 genomes]
rs4147192	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4492666	0.82[EUR][1000 genomes]
rs4926824	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55737131	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782706	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6588348	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6659946	0.80[EUR][1000 genomes]
rs6671254	0.82[EUR][1000 genomes]
rs6681868	0.85[EUR][1000 genomes]
rs6689687	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6692734	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6703956	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6795	0.81[ASN][1000 genomes]
rs72686249	0.81[ASN][1000 genomes]
rs7523987	0.81[ASN][1000 genomes]
rs7525650	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7533562	0.81[ASN][1000 genomes]
rs7541748	0.83[EUR][1000 genomes]
rs7543016	0.81[EUR][1000 genomes]
rs9436838	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9436882	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr1:47780200-47798400	Weak transcription	Spleen	Spleen
2	chr1:47780600-47798000	Weak transcription	HSMMtube	muscle
3	chr1:47780800-47789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:47780800-47791200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:47780800-47797800	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:47783800-47787800	Weak transcription	HepG2	liver
7	chr1:47785000-47786000	Enhancers	K562	blood

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