Variant report

Variant	rs2802705
Chromosome Location	chr6:69337256-69337257
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	chr6:69336943..69339880-chr6:69343535..69346281,2	K562	blood:
2	chr6:69331296..69333706-chr6:69336938..69339590,2	K562	blood:

Variant related genes	Relation type
ENSG00000230910	Chromatin interaction
ENSG00000135298	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10806605	0.82[CHB][hapmap]
rs10945133	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs10945134	0.91[CEU][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10945135	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12194992	0.83[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap]
rs12196021	0.83[CEU][hapmap];0.83[JPT][hapmap]
rs12198214	0.84[CEU][hapmap]
rs1523931	0.82[CHB][hapmap]
rs1523932	0.82[CHB][hapmap]
rs2024561	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2248272	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254150	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2256337	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2341765	0.81[ASN][1000 genomes]
rs2585593	0.87[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap]
rs2585594	0.88[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2585605	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585616	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2585618	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585619	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2585620	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746126	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2802690	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802699	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2802702	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2802703	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802704	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802706	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802710	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4554295	0.96[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4607402	0.83[JPT][hapmap]
rs478070	0.87[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap]
rs530888	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs639338	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs6908159	0.87[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs7743914	0.80[EUR][1000 genomes]
rs7754547	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs9342730	0.87[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap]
rs9342731	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs9346233	0.83[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap]
rs9346234	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs9346237	0.83[JPT][hapmap]
rs9346238	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs9351734	0.87[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap]
rs9351735	0.87[CHB][hapmap]

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	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830680	chr6:69192214-69351103	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2802705	SMAP1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69336600-69342600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:69337000-69337800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:69337200-69338800	Enhancers	HUES48 Cell Line	embryonic stem cell

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