Variant report

Variant	rs17209216
Chromosome Location	chr5:142639062-142639063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:142629234..142631315-chr5:142636942..142639138,2	K562	blood:
2	chr5:142627694..142631315-chr5:142636071..142640618,4	K562	blood:
3	chr5:142638248..142640637-chr5:142647659..142649424,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10482634	0.83[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10482655	0.83[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10482682	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11745958	0.82[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11750172	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17209237	0.90[AFR][1000 genomes]
rs17209251	0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17209258	0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17339455	0.82[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17399352	0.83[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2013935	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2398631	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2963156	0.83[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs33944801	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35501467	1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs4912903	1.00[ASN][1000 genomes]
rs4912906	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4912908	0.89[ASN][1000 genomes]
rs4986593	0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs62375499	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62375502	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324916	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

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	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv33748	chr5:142638267-142699595	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17209216	HDAC3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142629600-142641600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:142629800-142640800	Weak transcription	NHLF	lung
3	chr5:142630000-142641000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:142637600-142639200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:142637800-142640600	Weak transcription	K562	blood
6	chr5:142638000-142641400	Weak transcription	HSMM	muscle
7	chr5:142638200-142640400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:142638800-142640600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:142638800-142641200	Weak transcription	Small Intestine	intestine
10	chr5:142639000-142640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:142639000-142640600	Weak transcription	HMEC	breast
12	chr5:142639000-142640600	Weak transcription	NHEK	skin

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