Variant report

Variant	rs17464971
Chromosome Location	chr7:27065777-27065778
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	7:27061277-27071265..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
2	7:27061277-27071265..7:27238414-27242313	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SKAP2-4	chr7:27065758-27066113	NONHSAT119659

Variant related genes	Relation type
ENSG00000243766	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000078399	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11563293	1.00[AMR][1000 genomes]
rs11563452	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11563591	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564061	1.00[AMR][1000 genomes]
rs17154639	1.00[AMR][1000 genomes]
rs17154647	1.00[AMR][1000 genomes]
rs17464516	0.81[AFR][1000 genomes]
rs17464618	0.94[AFR][1000 genomes]
rs17464950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17464957	0.83[AFR][1000 genomes]
rs17465076	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17465282	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17465309	1.00[AMR][1000 genomes]
rs17499833	0.86[AFR][1000 genomes]
rs17500092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17500326	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17500417	1.00[AMR][1000 genomes]
rs4722649	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4722650	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4722651	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4722653	0.90[AFR][1000 genomes]
rs6461981	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6960055	1.00[AMR][1000 genomes]
rs6961068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282562	0.83[AFR][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	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv966768	chr7:27063598-27066773	Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27065200-27070200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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