Variant report

Variant	rs889292
Chromosome Location	chr5:52850891-52850892
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	chr5:52845560..52852709-chr5:52853019..52860470,9	K562	blood:

Variant related genes	Relation type
ENSG00000164258	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10057745	0.80[ASN][1000 genomes]
rs10063311	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10072971	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1030228	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12521381	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465445	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532163	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes]
rs1552649	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs1559266	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1844696	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1844698	0.83[EUR][1000 genomes]
rs187659	0.86[EUR][1000 genomes]
rs198941	0.94[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2130744	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs256083	0.87[EUR][1000 genomes]
rs256087	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs256090	0.94[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap]
rs256095	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs256107	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs256108	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs256110	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs256112	0.87[EUR][1000 genomes]
rs256116	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs256117	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs2607501	0.83[EUR][1000 genomes]
rs2607502	0.82[EUR][1000 genomes]
rs2607511	0.85[EUR][1000 genomes]
rs2636991	0.86[EUR][1000 genomes]
rs2637027	0.83[EUR][1000 genomes]
rs31303	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs370594	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs372006	0.85[EUR][1000 genomes]
rs372135	0.86[EUR][1000 genomes]
rs375956	0.87[EUR][1000 genomes]
rs376566	0.83[EUR][1000 genomes]
rs381374	0.87[EUR][1000 genomes]
rs399141	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap]
rs403207	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs4147740	0.88[CEU][hapmap]
rs423014	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs424955	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs429384	0.86[EUR][1000 genomes]
rs430427	0.86[EUR][1000 genomes]
rs435187	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs439552	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs439641	0.85[EUR][1000 genomes]
rs449160	0.83[EUR][1000 genomes]
rs549131	0.87[EUR][1000 genomes]
rs7728496	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes]
rs7731940	0.94[EUR][1000 genomes]
rs786335	0.86[EUR][1000 genomes]
rs813301	0.81[CHB][hapmap]
rs889291	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs923609	0.94[CEU][hapmap];0.93[CHB][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52850400-52851200	Enhancers	K562	blood
2	chr5:52850600-52851000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:52850600-52851200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:52850800-52851200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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