Variant report

Variant	rs1995581
Chromosome Location	chr8:118015903-118015904
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1001646	0.83[JPT][hapmap]
rs10429428	0.86[ASN][1000 genomes]
rs10429430	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1155178	0.83[JPT][hapmap]
rs12542825	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12675339	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs13269147	0.91[JPT][hapmap]
rs1505525	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1596895	0.91[JPT][hapmap]
rs17745041	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2047962	0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2047963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047964	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2921722	0.91[JPT][hapmap]
rs2938861	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2938863	0.96[CEU][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs2938864	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3019879	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3019880	0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs3019883	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3019884	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3019885	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3019886	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3019890	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs3020107	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs3020108	0.91[JPT][hapmap]
rs3020110	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs3020114	0.91[JPT][hapmap]
rs3020115	0.91[JPT][hapmap]
rs3020116	0.91[JPT][hapmap]
rs3020119	0.96[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs3020121	0.97[EUR][1000 genomes]
rs3020122	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4132473	0.96[CEU][hapmap]
rs4242567	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4269571	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs4510896	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55926302	0.86[ASN][1000 genomes]
rs56956780	0.85[ASN][1000 genomes]
rs58928889	0.81[ASN][1000 genomes]
rs60486060	0.85[ASN][1000 genomes]
rs6469667	0.96[CEU][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap]
rs6469668	0.88[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6469669	0.83[JPT][hapmap]
rs6987643	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7009891	0.83[JPT][hapmap]
rs7013929	0.84[ASN][1000 genomes]
rs7842705	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs921067	0.87[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv6360	chr8:118005370-118030914	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1800268	chr8:118007295-118021671	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv527876	chr8:118012265-118037316	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 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	chr8:118012800-118016600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:118015200-118016400	Weak transcription	Fetal Heart	heart

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