Variant report

Variant	rs10753181
Chromosome Location	chr1:171718031-171718032
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	chr1:171716243..171719064-chr1:171724959..171726661,2	K562	blood:

Variant related genes	Relation type
ENSG00000271459	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1001373	0.82[JPT][hapmap]
rs10489249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10489251	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798603	0.82[YRI][hapmap]
rs10913507	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10913529	0.82[JPT][hapmap]
rs10913530	0.82[YRI][hapmap]
rs10913565	0.83[JPT][hapmap]
rs10913578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913587	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11577073	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11577197	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11577745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11578699	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11578723	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11580522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11583920	0.83[JPT][hapmap]
rs11590680	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11590714	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12096984	0.84[YRI][hapmap]
rs12119232	0.94[ASN][1000 genomes]
rs12120152	0.89[YRI][hapmap]
rs12126566	0.90[ASN][1000 genomes]
rs16843230	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16843251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17649050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17649068	0.99[ASN][1000 genomes]
rs17649250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2073484	0.89[YRI][hapmap]
rs2227229	0.84[YRI][hapmap]
rs2298914	0.82[JPT][hapmap]
rs2421911	0.90[ASN][1000 genomes]
rs3753539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468194	0.81[YRI][hapmap]
rs6665581	0.89[YRI][hapmap]
rs6670427	0.83[CEU][hapmap]
rs6672082	0.85[YRI][hapmap]
rs6673782	0.87[YRI][hapmap]
rs6674688	0.86[YRI][hapmap]
rs6700606	0.81[YRI][hapmap]
rs999685	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10753181	VAMP4	Cis_1M	lymphoblastoid	RTeQTL
rs10753181	VAMP4	cis	Frontal Cortex	GTEx
rs10753181	VAMP4	cis	multi-tissue	Pritchard
rs10753181	VAMP4	cis	Brain Pons	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171712000-171723400	Weak transcription	Lung	lung
2	chr1:171713600-171722200	Weak transcription	NHLF	lung
3	chr1:171713600-171722800	Weak transcription	HMEC	breast
4	chr1:171715600-171720000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:171715800-171719800	Weak transcription	Primary monocytes fromperipheralblood	blood

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