Variant report

Variant	rs16846406
Chromosome Location	chr1:247379907-247379908
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247375650..247377516-chr1:247377910..247380248,2	K562	blood:
2	chr1:247375724..247377747-chr1:247379466..247381857,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1057996	1.00[EUR][1000 genomes]
rs10924980	0.92[EUR][1000 genomes]
rs10924984	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1192835	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1192836	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12239714	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1771919	1.00[EUR][1000 genomes]
rs1771923	1.00[CEU][hapmap]
rs1771928	1.00[EUR][1000 genomes]
rs1771944	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1771945	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1771946	1.00[EUR][1000 genomes]
rs1778534	1.00[CEU][hapmap]
rs1778548	1.00[EUR][1000 genomes]
rs1891074	1.00[EUR][1000 genomes]
rs2793288	1.00[EUR][1000 genomes]
rs2799179	0.84[EUR][1000 genomes]
rs4501868	1.00[CEU][hapmap]
rs4925535	1.00[EUR][1000 genomes]
rs55675011	1.00[ASN][1000 genomes]
rs56322743	1.00[EUR][1000 genomes]
rs57178323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61276550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657577	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6669714	1.00[EUR][1000 genomes]
rs6671690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676056	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689651	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74152973	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74152980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74152988	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74152993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517006	0.92[EUR][1000 genomes]
rs947174	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
3	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
8	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
9	nsv873436	chr1:247339064-247385877	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247379600-247380000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:247379600-247380000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:247379600-247380000	Enhancers	Fetal Thymus	thymus
4	chr1:247379800-247380000	Enhancers	K562	blood

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