Variant report

Variant	rs13024043
Chromosome Location	chr2:205320305-205320306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205317459..205320428-chr2:205333008..205336253,3	K562	blood:
2	chr2:205318766..205320712-chr2:205322486..205325283,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10084416	0.93[ASN][1000 genomes]
rs10490267	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10932063	0.80[ASN][1000 genomes]
rs1156249	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11690070	0.80[ASN][1000 genomes]
rs12472876	0.86[ASN][1000 genomes]
rs12616166	0.94[ASN][1000 genomes]
rs12990859	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13003798	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13005161	0.83[EUR][1000 genomes]
rs13007075	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13010221	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13021097	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1374708	0.91[ASN][1000 genomes]
rs1374709	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1447488	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1447490	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1447493	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1447495	0.85[ASN][1000 genomes]
rs1550909	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17637637	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17637778	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34157021	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34368384	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34816339	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35071164	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35207649	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4675457	0.93[ASN][1000 genomes]
rs71427747	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71427750	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71427751	0.83[EUR][1000 genomes]
rs71427753	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7602656	0.85[ASN][1000 genomes]
rs921163	0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs959032	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs959033	0.91[EUR][1000 genomes];0.86[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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13024043	ALS2CR8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205316600-205320400	Enhancers	Fetal Intestine Small	intestine
2	chr2:205319000-205320400	Enhancers	Colon Smooth Muscle	Colon
3	chr2:205319000-205321000	Weak transcription	Aorta	Aorta
4	chr2:205320000-205323200	Weak transcription	Lung	lung

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