Variant report

Variant	rs10924980
Chromosome Location	chr1:247445650-247445651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247444095..247447712-chr1:247449743..247453881,5	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1057996	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732300	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10924984	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192835	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192836	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239714	1.00[ASN][1000 genomes]
rs16846406	0.92[EUR][1000 genomes]
rs1771919	0.92[EUR][1000 genomes]
rs1771928	0.92[EUR][1000 genomes]
rs1771944	1.00[ASN][1000 genomes]
rs1771945	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771946	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778548	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891074	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793288	0.92[EUR][1000 genomes]
rs2799179	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4501868	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4925535	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56322743	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57178323	0.92[EUR][1000 genomes]
rs61276550	0.92[EUR][1000 genomes]
rs6657577	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669714	0.92[EUR][1000 genomes]
rs6671690	0.92[EUR][1000 genomes]
rs6676056	0.92[EUR][1000 genomes]
rs6689651	0.92[EUR][1000 genomes]
rs74152973	0.83[EUR][1000 genomes]
rs74152980	0.92[EUR][1000 genomes]
rs74152988	0.92[EUR][1000 genomes]
rs74152993	0.92[EUR][1000 genomes]
rs7517006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947174	1.00[EUR][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	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	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
3	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
5	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr1:247436800-247457000	Weak transcription	HSMMtube	muscle
2	chr1:247444800-247449600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:247445000-247449200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:247445600-247455400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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