Variant report

Variant	rs4975052
Chromosome Location	chr4:80426208-80426209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10021556	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10022309	0.82[ASN][1000 genomes]
rs10022314	0.82[ASN][1000 genomes]
rs10025630	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10027904	0.91[ASN][1000 genomes]
rs10033410	0.82[ASN][1000 genomes]
rs1074134	0.99[ASN][1000 genomes]
rs11098741	0.82[ASN][1000 genomes]
rs11098742	0.82[ASN][1000 genomes]
rs1115519	0.94[ASN][1000 genomes]
rs11736348	0.99[ASN][1000 genomes]
rs11936123	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502224	0.82[ASN][1000 genomes]
rs12506212	0.95[ASN][1000 genomes]
rs12510204	0.82[ASN][1000 genomes]
rs12510243	0.82[ASN][1000 genomes]
rs12511890	0.99[ASN][1000 genomes]
rs12513177	0.82[ASN][1000 genomes]
rs12639996	0.82[ASN][1000 genomes]
rs12640638	0.82[ASN][1000 genomes]
rs13111877	1.00[ASN][1000 genomes]
rs13118924	0.98[ASN][1000 genomes]
rs13128134	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1371996	0.83[ASN][1000 genomes]
rs1440860	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1440861	1.00[ASN][1000 genomes]
rs1440862	0.99[ASN][1000 genomes]
rs1440863	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1440865	0.82[ASN][1000 genomes]
rs1440866	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1561638	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1561639	0.99[ASN][1000 genomes]
rs1561640	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1595966	0.82[ASN][1000 genomes]
rs1899232	0.99[ASN][1000 genomes]
rs1971838	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1992367	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2119419	0.96[ASN][1000 genomes]
rs2119420	0.96[ASN][1000 genomes]
rs2119421	0.84[ASN][1000 genomes]
rs4975053	0.82[ASN][1000 genomes]
rs4975054	0.82[ASN][1000 genomes]
rs4975055	0.82[ASN][1000 genomes]
rs723243	1.00[ASN][1000 genomes]
rs723245	0.99[ASN][1000 genomes]
rs7655446	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7663844	0.99[ASN][1000 genomes]
rs7670107	0.99[ASN][1000 genomes]
rs7684683	0.99[ASN][1000 genomes]
rs7690520	0.99[ASN][1000 genomes]
rs7691021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7691868	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7691918	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7697359	0.82[ASN][1000 genomes]
rs880988	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9307532	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs998437	0.99[ASN][1000 genomes]
rs9993773	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv999174	chr4:80212935-80512356	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv879507	chr4:80365765-80552199	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879508	chr4:80398708-80552199	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4975052	LINC00989	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80423400-80426600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:80423600-80426400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:80425400-80426800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:80426000-80427200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:80426000-80427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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