Variant report

Variant	rs639008
Chromosome Location	chr5:177996542-177996543
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	chr5:177995855..177997941-chr5:178001993..178004774,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12523444	0.80[ASN][1000 genomes]
rs195808	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs262038	0.88[ASN][1000 genomes]
rs262056	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs262059	0.85[ASN][1000 genomes]
rs418146	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4452575	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs485712	0.94[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs493255	0.83[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs505529	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs508246	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs508327	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs526948	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529585	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs536169	0.86[ASN][1000 genomes]
rs537638	0.93[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs625820	0.94[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs640037	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641279	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs653562	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177990400-177997800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:177992600-177996600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:177992600-177999600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:177992600-177999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:177993400-177996600	Weak transcription	Fetal Stomach	stomach
6	chr5:177994200-177999600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:177996000-177996600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:177996000-177996800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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