Variant report

Variant	rs171661
Chromosome Location	chr5:115111928-115111929
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs152395	0.83[MEX][hapmap]
rs152396	0.91[CHB][hapmap];0.87[CHD][hapmap]
rs154762	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs154763	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs154764	0.80[ASN][1000 genomes]
rs154765	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs154771	0.80[EUR][1000 genomes]
rs154774	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs154775	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs154778	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs154779	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs154780	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs154781	0.84[EUR][1000 genomes]
rs154782	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs154783	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs171613	0.82[CHB][hapmap]
rs183769	0.90[CHB][hapmap]
rs193877	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71186	0.93[ASW][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][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	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
2	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
3	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
4	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs171661	CRYGB	trans	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115091800-115117200	Weak transcription	Liver	Liver
2	chr5:115106400-115112000	Enhancers	Fetal Muscle Leg	muscle
3	chr5:115109200-115112800	Weak transcription	Right Atrium	heart
4	chr5:115110600-115112000	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:115110800-115117400	Weak transcription	Ovary	ovary
6	chr5:115111000-115114000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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