Variant report

Variant	rs17792674
Chromosome Location	chr1:214774867-214774868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214773067..214775005-chr1:215239783..215241407,2	K562	blood:
2	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:
3	chr1:214723767..214726550-chr1:214774637..214776348,2	MCF-7	breast:
4	chr1:214773497..214776791-chr1:214785798..214789572,5	K562	blood:

Variant related genes	Relation type
ENSG00000250536	Chromatin interaction
ENSG00000152104	Chromatin interaction
ENSG00000224584	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10494982	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11120362	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11120363	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11120364	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11487824	0.89[ASN][1000 genomes]
rs11487873	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11487874	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11802860	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11803191	0.82[AFR][1000 genomes]
rs11804330	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11806558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12067115	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12068412	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17734879	0.82[CEU][hapmap]
rs17735873	0.83[AFR][1000 genomes]
rs17735908	0.83[AFR][1000 genomes]
rs17736682	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17736783	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2362215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35222159	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35329321	1.00[CEU][hapmap]
rs41277186	0.94[ASN][1000 genomes]
rs56756772	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58019184	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58523012	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59110162	0.83[AFR][1000 genomes]
rs59120363	0.85[AMR][1000 genomes]
rs61732042	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6701315	0.82[CEU][hapmap]
rs7522082	0.82[CEU][hapmap]
rs954414	0.83[AFR][1000 genomes]

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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv1791911	chr1:214774278-214776936	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214774200-214776000	Enhancers	HepG2	liver
2	chr1:214774600-214775400	Enhancers	A549	lung
3	chr1:214774800-214775400	Enhancers	K562	blood

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