Variant report

Variant	rs8020629
Chromosome Location	chr14:80266617-80266618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10134488	0.82[CHD][hapmap];0.86[TSI][hapmap]
rs10137829	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs10138362	1.00[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.91[TSI][hapmap]
rs10138886	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10140701	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs10142357	0.84[ASN][1000 genomes]
rs10145081	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10145867	1.00[CEU][hapmap]
rs10149110	1.00[CEU][hapmap]
rs10149117	1.00[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.91[TSI][hapmap]
rs11849377	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs12050371	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1882861	1.00[CEU][hapmap]
rs2293813	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2293814	1.00[CEU][hapmap]
rs2293815	1.00[CEU][hapmap]
rs28641573	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28714674	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28724578	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4488380	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4489938	1.00[CEU][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap]
rs60327461	0.89[ASN][1000 genomes]
rs60558485	0.84[ASN][1000 genomes]
rs61992427	0.94[EUR][1000 genomes]
rs61992428	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61992431	0.80[EUR][1000 genomes]
rs6574522	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143833	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs8010965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011654	1.00[CEU][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap]
rs960376	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80262600-80268800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr14:80263000-80267200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:80263000-80268400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:80263200-80268600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:80263400-80268600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:80264600-80268000	Enhancers	Colon Smooth Muscle	Colon
7	chr14:80265000-80267200	Enhancers	Rectal Smooth Muscle	rectum
8	chr14:80265400-80267400	Enhancers	Brain Germinal Matrix	brain
9	chr14:80265800-80266800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr14:80265800-80267000	Enhancers	Fetal Kidney	kidney
11	chr14:80266200-80267200	Weak transcription	Psoas Muscle	Psoas
12	chr14:80266200-80267600	Enhancers	Skeletal Muscle Female	skeletal muscle

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