Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173730786..173733369-chr2:173736529..173738665,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16860965	0.85[CEU][hapmap]
rs17740794	0.83[EUR][1000 genomes]
rs2194715	1.00[CHB][hapmap]
rs34469004	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs3754762	0.81[ASN][1000 genomes]
rs3754763	0.82[ASN][1000 genomes]
rs3769274	0.90[ASN][1000 genomes]
rs3769277	0.81[ASN][1000 genomes]
rs3769278	0.81[ASN][1000 genomes]
rs3769280	0.81[ASN][1000 genomes]
rs3769281	0.81[ASN][1000 genomes]
rs3769286	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769293	0.84[EUR][1000 genomes]
rs3769294	0.84[ASN][1000 genomes]
rs3769302	1.00[CHB][hapmap]
rs57440334	0.82[ASN][1000 genomes]
rs58541680	0.83[EUR][1000 genomes]
rs59080171	0.89[ASN][1000 genomes]
rs724997	1.00[CHB][hapmap]
rs72906197	0.84[EUR][1000 genomes]
rs72908203	0.84[EUR][1000 genomes]
rs73977720	0.82[ASN][1000 genomes]
rs73977722	0.81[ASN][1000 genomes]
rs73977726	0.82[ASN][1000 genomes]
rs956752	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs3754764	NOL4	cis	Frontal Cortex	GTEx
rs3754764	C4orf41	cis	Frontal Cortex	GTEx
rs3754764	GPIHBP1	cis	Frontal Cortex	GTEx
rs3754764	FAM3A	cis	Frontal Cortex	GTEx
rs3754764	PEX11G	cis	Frontal Cortex	GTEx
rs3754764	SCAMP3	cis	Frontal Cortex	GTEx
rs3754764	POMGNT1	cis	Frontal Cortex	GTEx
rs3754764	PCYT1B	cis	Frontal Cortex	GTEx
rs3754764	GPD1	cis	Frontal Cortex	GTEx
rs3754764	NME3	cis	Frontal Cortex	GTEx
rs3754764	NLGN4X	cis	Frontal Cortex	GTEx
rs3754764	C19orf50	cis	Frontal Cortex	GTEx
rs3754764	SHARPIN	cis	Frontal Cortex	GTEx
rs3754764	HAPLN2	cis	Frontal Cortex	GTEx
rs3754764	SSNA1	cis	Frontal Cortex	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173726000-173734400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:173726200-173734400	Weak transcription	NHEK	skin
3	chr2:173726200-173734600	Weak transcription	HUVEC	blood vessel
4	chr2:173726800-173753600	Weak transcription	Brain Angular Gyrus	brain
5	chr2:173727800-173733400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:173729000-173735000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:173729200-173737000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:173729600-173733400	Weak transcription	Fetal Intestine Large	intestine

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