Variant report

Variant	rs4421377
Chromosome Location	chr8:119515152-119515153
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12674772	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12682339	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34696241	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4129893	0.88[CHB][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4242582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4242583	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4242585	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4551393	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557731	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4876851	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876852	0.89[CEU][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56078225	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56151246	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62531882	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62531887	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62531891	0.97[EUR][1000 genomes]
rs7015005	1.00[CEU][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.96[TSI][hapmap]

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	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119502000-119522400	Weak transcription	Pancreas	Pancrea
2	chr8:119504800-119517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:119507600-119518600	Weak transcription	Fetal Lung	lung
4	chr8:119510400-119517200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:119512200-119516800	Weak transcription	Stomach Mucosa	stomach
6	chr8:119512400-119517000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:119512800-119515600	Weak transcription	GM12878-XiMat	blood
8	chr8:119514000-119517000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:119514800-119515400	Enhancers	Brain Hippocampus Middle	brain
10	chr8:119515000-119515200	Enhancers	HSMMtube	muscle
11	chr8:119515000-119517000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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