Variant report

Variant	rs10044983
Chromosome Location	chr5:115085203-115085204
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	chr5:115083087..115085435-chr5:115086975..115089402,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10053898	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060156	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10061410	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10061579	0.81[EUR][1000 genomes]
rs10066093	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10066139	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10067787	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10067851	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10069142	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10076240	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10076383	0.81[EUR][1000 genomes]
rs10077593	0.91[EUR][1000 genomes]
rs10079490	0.95[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014496	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10214181	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1422286	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1472623	0.91[EUR][1000 genomes]
rs2080903	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2098631	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs249488	0.89[EUR][1000 genomes]
rs4920890	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4920891	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921023	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4921024	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5028204	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5028205	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5028206	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104345	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59276809	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62371714	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62371715	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6869363	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs731649	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs731650	0.95[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7706913	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs995495	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1024641	chr5:115030110-115123474	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1021139	chr5:115036724-115131280	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115073600-115086200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:115084200-115090400	Weak transcription	Liver	Liver

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