Variant report

Variant	rs1935067
Chromosome Location	chr1:159050103-159050104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159045143..159047906-chr1:159048588..159051192,2	K562	blood:
2	chr1:159048113..159051506-chr1:159051695..159053675,3	K562	blood:

Variant related genes	Relation type
ENSG00000163568	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12098223	0.90[CHD][hapmap]
rs12124059	0.89[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs16841642	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16841682	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1772414	0.83[CHD][hapmap]
rs1772415	0.81[CHD][hapmap]
rs2298803	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2518562	0.94[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2793845	0.87[ASN][1000 genomes]
rs2814770	0.85[CHD][hapmap]
rs2814771	0.90[CHD][hapmap]
rs2852695	0.82[CHB][hapmap]
rs3737522	0.90[CHD][hapmap]
rs3754460	0.90[CHD][hapmap]
rs3768513	0.90[CHD][hapmap]
rs41264457	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55719948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55791394	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855865	1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs855871	0.86[GIH][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	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2473532	chr1:159049640-159051091	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1935067	AIM2	cis	multi-tissue	Pritchard
rs1935067	AIM2	Cis_1M	lymphoblastoid	RTeQTL
rs1935067	AIM2	cis	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159038600-159056400	Weak transcription	Spleen	Spleen
2	chr1:159047000-159051000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:159048000-159051000	Weak transcription	NHDF-Ad	bronchial
4	chr1:159048000-159053600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:159048200-159053600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:159048400-159052400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:159048800-159051200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:159049000-159052200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:159049600-159058000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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