Variant report

Variant	rs438706
Chromosome Location	chr21:37927798-37927799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37792387..37794990-chr21:37927317..37930262,2	MCF-7	breast:
2	chr21:37927572..37929206-chr21:37935404..37938098,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11910519	0.85[ASN][1000 genomes]
rs12386295	0.85[ASN][1000 genomes]
rs12482375	0.85[ASN][1000 genomes]
rs13047871	0.84[ASN][1000 genomes]
rs13050577	0.82[ASN][1000 genomes]
rs13051386	0.85[ASN][1000 genomes]
rs2409822	0.85[ASN][1000 genomes]
rs2734392	0.89[ASN][1000 genomes]
rs2734393	0.89[ASN][1000 genomes]
rs2835390	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs2835394	0.85[ASN][1000 genomes]
rs2835397	0.83[ASN][1000 genomes]
rs2835399	0.83[ASN][1000 genomes]
rs2845783	0.90[ASN][1000 genomes]
rs2845784	0.89[ASN][1000 genomes]
rs2845785	0.88[ASN][1000 genomes]
rs2845786	0.88[ASN][1000 genomes]
rs2850085	0.89[ASN][1000 genomes]
rs34053958	0.85[ASN][1000 genomes]
rs34521064	0.85[ASN][1000 genomes]
rs367166	0.85[CHB][hapmap]
rs373349	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs377483	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs377777	0.84[ASN][1000 genomes]
rs382620	0.90[ASN][1000 genomes]
rs385073	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386394	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs386752	0.90[ASN][1000 genomes]
rs390584	0.90[ASN][1000 genomes]
rs397996	0.85[CHB][hapmap]
rs398591	0.85[CHB][hapmap]
rs399711	0.86[CHB][hapmap]
rs400019	0.86[CHB][hapmap]
rs400267	0.85[CHB][hapmap]
rs400544	0.86[CHB][hapmap]
rs400731	0.90[ASN][1000 genomes]
rs405828	0.90[ASN][1000 genomes]
rs412510	0.82[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs412775	0.86[CHB][hapmap]
rs413616	0.86[CHB][hapmap]
rs419513	0.90[ASN][1000 genomes]
rs420352	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs420885	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs420925	0.86[CHB][hapmap]
rs425864	0.89[CHB][hapmap]
rs426275	0.90[ASN][1000 genomes]
rs430159	0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs431530	0.86[CHB][hapmap]
rs431741	0.82[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs432137	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs432294	0.89[ASN][1000 genomes]
rs432706	0.90[ASN][1000 genomes]
rs4372989	0.85[ASN][1000 genomes]
rs437724	0.90[ASN][1000 genomes]
rs438064	0.82[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.88[ASN][1000 genomes]
rs438492	0.82[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs439888	0.84[CHB][hapmap]
rs441389	0.90[ASN][1000 genomes]
rs441524	0.90[ASN][1000 genomes]
rs443968	0.84[CHB][hapmap]
rs445103	0.86[CHB][hapmap]
rs448332	0.81[CHB][hapmap]
rs448482	0.86[CHB][hapmap]
rs448659	0.83[CHB][hapmap]
rs448687	0.81[CHB][hapmap]
rs448849	0.86[CHB][hapmap]
rs450932	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs451243	0.86[CHB][hapmap]
rs4528850	0.85[ASN][1000 genomes]
rs876780	0.82[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs9305597	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv13917	chr21:37922877-37938746	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs438706	FAM165B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37922000-37928800	Enhancers	Fetal Muscle Leg	muscle
2	chr21:37923800-37928800	Enhancers	Fetal Muscle Trunk	muscle
3	chr21:37926400-37927800	Enhancers	Ovary	ovary
4	chr21:37927200-37927800	Enhancers	HSMMtube	muscle

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