Variant report

Variant	rs267727
Chromosome Location	chr1:150894503-150894504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150542198..150544708-chr1:150893350..150895206,2	K562	blood:
2	chr1:150888318..150890863-chr1:150893491..150895097,2	K562	blood:
3	chr1:150601346..150603290-chr1:150894418..150896629,2	MCF-7	breast:
4	chr1:150887871..150890031-chr1:150893806..150895331,2	MCF-7	breast:
5	chr1:150890944..150896725-chr1:150896868..150900962,8	MCF-7	breast:
6	chr1:150892976..150894840-chr1:150949265..150951717,2	K562	blood:

Variant related genes	Relation type
ENSG00000143420	Chromatin interaction
ENSG00000143379	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10305668	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10788793	1.00[AMR][1000 genomes]
rs10788796	0.84[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11204728	1.00[CEU][hapmap]
rs11204732	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11204776	1.00[CEU][hapmap]
rs12066452	1.00[CEU][hapmap]
rs13376166	1.00[ASN][1000 genomes]
rs198324	0.82[AFR][1000 genomes]
rs267728	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs267736	0.84[MKK][hapmap]
rs28498299	1.00[ASN][1000 genomes]
rs4970975	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6587522	1.00[CEU][hapmap]
rs6587534	1.00[CEU][hapmap]
rs6587538	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6661777	1.00[ASN][1000 genomes]
rs7515228	1.00[CEU][hapmap]
rs7517566	0.85[YRI][hapmap]
rs7518440	1.00[CEU][hapmap]
rs7518546	1.00[CEU][hapmap]
rs7526690	1.00[AMR][1000 genomes]
rs7533914	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7536645	0.84[ASW][hapmap];1.00[CEU][hapmap]
rs796407	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv947130	chr1:150878115-150899504	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:150879200-150898200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:150888000-150894800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:150891200-150894800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:150894400-150894800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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