Variant report

Variant	rs17001393
Chromosome Location	chr4:77024852-77024853
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	chr4:77024140..77027603-chr4:77067488..77070849,3	K562	blood:
2	chr4:77022675..77026827-chr4:77067488..77070849,4	K562	blood:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11097229	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1372410	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1372411	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1465923	0.82[JPT][hapmap]
rs1542093	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1542094	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1542095	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001389	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001395	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001398	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001534	0.95[ASN][1000 genomes]
rs17001542	0.95[ASN][1000 genomes]
rs17001551	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17001559	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001593	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001598	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001601	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001606	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001633	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs35442986	0.95[ASN][1000 genomes]
rs3733255	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3733256	0.83[ASN][1000 genomes]
rs4379080	1.00[ASN][1000 genomes]
rs4416503	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4639101	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs56696020	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60169811	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6826514	0.92[ASN][1000 genomes]
rs6856609	1.00[JPT][hapmap]
rs73825885	0.97[ASN][1000 genomes]
rs73826318	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73826361	0.95[ASN][1000 genomes]
rs7436214	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7682766	1.00[JPT][hapmap]
rs9307076	0.95[YRI][hapmap];0.95[AFR][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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77015200-77025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:77016400-77025000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:77017000-77034400	Weak transcription	Right Ventricle	heart
4	chr4:77021200-77026600	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:77024000-77032200	Weak transcription	Left Ventricle	heart
6	chr4:77024800-77027000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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