Variant report

Variant	rs4957358
Chromosome Location	chr5:40867959-40867960
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	chr5:40861136..40863091-chr5:40865638..40868114,2	K562	blood:
2	chr5:40833133..40835990-chr5:40867095..40868657,2	K562	blood:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11744119	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs178929	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1812960	0.85[AFR][1000 genomes]
rs1827364	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1910015	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2122570	0.91[ASN][1000 genomes]
rs2271709	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2455305	0.89[JPT][hapmap]
rs2675979	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2675981	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs324062	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs324064	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs324070	0.92[ASN][1000 genomes]
rs324071	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs324073	0.85[AFR][1000 genomes]
rs4360083	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59027389	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60480205	1.00[ASN][1000 genomes]
rs6888489	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6890698	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6895317	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73088503	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73088510	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7702096	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7715597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725655	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	esv3444044	chr5:40860244-40888483	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40856200-40871400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40866600-40868000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:40867600-40871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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