Variant report

Variant	rs68138282
Chromosome Location	chr1:154363441-154363442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11265594	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12058332	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12063437	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12066892	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12068128	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12077265	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12749618	0.86[EUR][1000 genomes]
rs16865579	0.85[EUR][1000 genomes]
rs1889316	0.85[EUR][1000 genomes]
rs1948143	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28410194	0.85[EUR][1000 genomes]
rs28530583	0.85[EUR][1000 genomes]
rs34065906	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34146123	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34749203	0.85[EUR][1000 genomes]
rs35091500	0.82[EUR][1000 genomes]
rs35112510	0.84[EUR][1000 genomes]
rs35229198	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35595831	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35629421	0.85[EUR][1000 genomes]
rs3811451	0.85[EUR][1000 genomes]
rs3811452	0.81[EUR][1000 genomes]
rs4304577	0.85[EUR][1000 genomes]
rs4406622	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4414034	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4622059	0.84[EUR][1000 genomes]
rs61803412	0.85[EUR][1000 genomes]
rs61803414	0.85[EUR][1000 genomes]
rs61804488	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61804489	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61812565	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662855	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6662976	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6663105	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6667225	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6672627	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6690468	0.85[EUR][1000 genomes]
rs6701309	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68031662	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs749966	0.81[EUR][1000 genomes]
rs7518394	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7523399	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7530735	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7530868	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7547455	0.88[ASN][1000 genomes]
rs7552370	0.83[AMR][1000 genomes];0.84[EUR][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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154358400-154363600	Weak transcription	Esophagus	oesophagus
2	chr1:154358600-154363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:154358600-154364000	Weak transcription	Hela-S3	cervix
4	chr1:154359600-154363600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:154359600-154363800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:154359600-154364000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:154360400-154370000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:154360800-154364200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:154362800-154363600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:154363200-154364400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:154363400-154364600	Enhancers	NHEK	skin

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