Variant report

Variant	rs737617
Chromosome Location	chr11:9672468-9672469
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	chr11:9634944..9638366-chr11:9672187..9674812,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10743114	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10743115	0.91[EUR][1000 genomes]
rs10770047	0.81[TSI][hapmap]
rs10770052	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10770053	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840269	0.82[GIH][hapmap];0.80[MEX][hapmap]
rs10840274	0.86[CEU][hapmap]
rs10840276	0.93[ASN][1000 genomes]
rs10840279	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840281	0.90[ASN][1000 genomes]
rs11042452	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042453	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042454	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12273601	0.81[CEU][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs12361442	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1865558	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2082807	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4910483	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7118466	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7118581	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs715333	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7950021	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896986	chr11:9636854-9679145	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv972945	chr11:9660423-9684250	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs737617	SWAP70	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9668000-9673200	Weak transcription	Small Intestine	intestine
2	chr11:9668000-9673200	Weak transcription	Spleen	Spleen
3	chr11:9670400-9673000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:9670600-9672800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:9671200-9673400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9671200-9673400	Weak transcription	HSMMtube	muscle

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