Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:141518837..141521079-chr3:141521357..141523336,2	K562	blood:
2	chr3:141517480..141520368-chr3:141594194..141596021,2	K562	blood:
3	chr3:141518727..141521010-chr3:141568296..141570151,2	K562	blood:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction

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

rs_ID	r²[population]
rs13317804	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2030183	0.84[CEU][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2677433	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2677434	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2681696	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs2681698	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs34357486	0.82[EUR][1000 genomes]
rs34480341	0.82[EUR][1000 genomes]
rs4234469	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs4327361	0.80[EUR][1000 genomes]
rs4447734	1.00[CEU][hapmap]
rs4594596	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4683409	0.94[CHB][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683625	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56358931	0.95[ASN][1000 genomes]
rs6440037	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6806847	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7615804	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7616846	0.84[CEU][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7630190	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9831276	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9859089	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4234468	ACPL2	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141516800-141523400	Weak transcription	Fetal Brain Male	brain
2	chr3:141517000-141523400	Weak transcription	Gastric	stomach
3	chr3:141517200-141523400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:141517800-141519400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:141517800-141521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:141517800-141523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:141517800-141523400	Weak transcription	Fetal Kidney	kidney
8	chr3:141517800-141523600	Weak transcription	Pancreas	Pancrea
9	chr3:141518000-141523400	Weak transcription	Esophagus	oesophagus
10	chr3:141519200-141521000	Weak transcription	K562	blood

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