Variant report

Variant	rs58889983
Chromosome Location	chr5:52838876-52838877
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	chr5:52837372..52839534-chr5:52842108..52843861,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10065003	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10078892	0.95[ASN][1000 genomes]
rs10471866	0.83[ASN][1000 genomes]
rs10940322	0.88[ASN][1000 genomes]
rs10940323	0.91[ASN][1000 genomes]
rs12514280	0.87[ASN][1000 genomes]
rs12657948	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13177321	0.92[ASN][1000 genomes]
rs13179304	0.83[ASN][1000 genomes]
rs1532162	0.91[ASN][1000 genomes]
rs16881474	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs187658	0.83[ASN][1000 genomes]
rs256081	0.82[ASN][1000 genomes]
rs256082	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256086	0.81[ASN][1000 genomes]
rs256109	0.83[ASN][1000 genomes]
rs256111	0.83[ASN][1000 genomes]
rs2607485	0.82[ASN][1000 genomes]
rs2637002	0.82[ASN][1000 genomes]
rs34071992	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs365358	0.81[ASN][1000 genomes]
rs4147732	0.91[ASN][1000 genomes]
rs4147734	0.90[ASN][1000 genomes]
rs425085	0.83[ASN][1000 genomes]
rs444848	0.83[ASN][1000 genomes]
rs454735	0.81[ASN][1000 genomes]
rs4865547	0.91[ASN][1000 genomes]
rs4865548	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs524289	0.83[ASN][1000 genomes]
rs7711180	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7717681	0.83[ASN][1000 genomes]
rs7736747	0.91[ASN][1000 genomes]
rs889290	0.93[EUR][1000 genomes]
rs918625	0.91[ASN][1000 genomes]
rs923610	0.90[ASN][1000 genomes]
rs9790964	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9791019	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9791152	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52836200-52839000	Weak transcription	HSMM	muscle
2	chr5:52837600-52840600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:52837800-52841200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:52837800-52843000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:52838000-52839200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:52838000-52839200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:52838200-52839000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:52838200-52839200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:52838400-52843000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:52838600-52839000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:52838600-52839600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:52838800-52839000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:52838800-52839000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:52838800-52839000	Enhancers	K562	blood
15	chr5:52838800-52839600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:52838800-52843000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:52838800-52843600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:52838800-52843600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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