Variant report

Variant	rs195808
Chromosome Location	chr5:178000249-178000250
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	chr5:177998655..178001259-chr5:178016599..178018509,2	MCF-7	breast:
2	chr5:177997965..178000895-chr5:178002250..178003802,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050767	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs262038	0.91[ASN][1000 genomes]
rs262053	0.82[EUR][1000 genomes]
rs262056	0.80[ASN][1000 genomes]
rs262059	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs262062	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs262066	0.86[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs418146	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4452575	0.83[ASN][1000 genomes]
rs485712	0.85[CHB][hapmap]
rs493255	0.85[CHB][hapmap]
rs505529	0.88[ASN][1000 genomes]
rs508327	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs526948	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs529585	0.80[ASN][1000 genomes]
rs536169	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537638	0.83[CHB][hapmap]
rs625820	0.85[CHB][hapmap]
rs639008	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs640037	0.86[ASN][1000 genomes]
rs641279	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs653562	0.95[CHB][hapmap];0.86[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177999200-178000600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:177999400-178000600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr5:178000200-178000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:178000200-178002200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:178000200-178003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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