Variant report

Variant	rs7623750
Chromosome Location	chr3:138853554-138853555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138852662..138855349-chr3:139061361..139063361,3	K562	blood:
2	chr3:138846515..138849332-chr3:138852696..138854714,2	K562	blood:
3	chr3:138852662..138855349-chr3:139061361..139062870,2	K562	blood:
4	chr3:138852328..138855231-chr3:139061265..139063191,2	MCF-7	breast:
5	chr3:138844509..138846014-chr3:138852462..138854010,2	K562	blood:
6	chr3:138847994..138851900-chr3:138852497..138855700,4	K562	blood:

Variant related genes	Relation type
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10935306	0.95[EUR][1000 genomes]
rs10935312	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11707723	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11719269	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11919258	0.82[EUR][1000 genomes]
rs11919334	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11919416	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11927735	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11928890	0.86[EUR][1000 genomes]
rs12629439	0.97[ASN][1000 genomes]
rs12631401	0.90[ASN][1000 genomes]
rs12632107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12632125	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12639194	0.91[ASN][1000 genomes]
rs13067012	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13068617	0.98[EUR][1000 genomes]
rs13069247	0.89[EUR][1000 genomes]
rs13069778	0.99[ASN][1000 genomes]
rs13074693	0.89[EUR][1000 genomes]
rs13075082	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13079289	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13079437	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13083364	1.00[EUR][1000 genomes]
rs13086745	0.90[EUR][1000 genomes]
rs13089589	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097708	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1554563	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1554564	0.97[ASN][1000 genomes]
rs1554565	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2737737	1.00[ASN][1000 genomes]
rs35781224	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4365652	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4429660	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4894381	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4894382	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4894383	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4894384	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4894397	0.90[EUR][1000 genomes]
rs56729627	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57272617	0.83[ASN][1000 genomes]
rs6775443	0.96[ASN][1000 genomes]
rs6778179	0.97[ASN][1000 genomes]
rs6778394	0.97[ASN][1000 genomes]
rs7426421	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7614968	0.99[ASN][1000 genomes]
rs7615670	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7626912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7627087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637464	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7639780	0.82[AMR][1000 genomes];0.92[EUR][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	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3425255	chr3:138852762-138856260	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7623750	RASA2	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138849400-138854600	Weak transcription	Pancreas	Pancrea
2	chr3:138853000-138854200	Enhancers	HMEC	breast
3	chr3:138853000-138854800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr3:138853200-138855400	Enhancers	K562	blood

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