Variant report

Variant	rs56250713
Chromosome Location	chr1:247444954-247444955
allele	C/T
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: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10754543	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10802482	0.89[EUR][1000 genomes]
rs10802483	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11579326	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11581163	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12081945	0.88[EUR][1000 genomes]
rs12082983	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12564303	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12566166	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1771918	0.89[EUR][1000 genomes]
rs17721193	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1778552	0.89[EUR][1000 genomes]
rs1778553	0.88[EUR][1000 genomes]
rs2211273	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2890342	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41268345	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4925606	0.93[EUR][1000 genomes]
rs4925620	0.84[AMR][1000 genomes]
rs55686936	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55913685	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56124448	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56245379	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56358050	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57647632	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57653401	0.90[ASN][1000 genomes]
rs58747962	0.97[ASN][1000 genomes]
rs61838684	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61838689	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61841570	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6426236	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6426238	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6656258	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6667658	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6698384	0.94[EUR][1000 genomes]
rs6698803	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7544023	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7552041	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247436800-247457000	Weak transcription	HSMMtube	muscle
2	chr1:247444000-247445600	Enhancers	K562	blood
3	chr1:247444200-247445600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:247444200-247445600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:247444600-247445000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:247444600-247445000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:247444600-247445000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:247444600-247445600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:247444600-247445600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:247444600-247445600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:247444800-247445000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:247444800-247445600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:247444800-247445600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr1:247444800-247445600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:247444800-247449600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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