Variant report

Variant	rs2340487
Chromosome Location	chr1:154363657-154363658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1113142	1.00[EUR][1000 genomes]
rs11265605	1.00[EUR][1000 genomes]
rs11265630	1.00[EUR][1000 genomes]
rs1194591	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1194594	1.00[EUR][1000 genomes]
rs1194597	1.00[EUR][1000 genomes]
rs1194601	1.00[EUR][1000 genomes]
rs1194605	1.00[EUR][1000 genomes]
rs1205590	1.00[EUR][1000 genomes]
rs16835909	1.00[EUR][1000 genomes]
rs1685625	1.00[EUR][1000 genomes]
rs1685626	1.00[EUR][1000 genomes]
rs1817688	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2500222	1.00[EUR][1000 genomes]
rs2633434	1.00[EUR][1000 genomes]
rs4078519	1.00[EUR][1000 genomes]
rs4240873	1.00[EUR][1000 genomes]
rs4393148	1.00[EUR][1000 genomes]
rs4406621	1.00[EUR][1000 genomes]
rs4520411	1.00[EUR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs4845632	1.00[EUR][1000 genomes]
rs4845646	1.00[EUR][1000 genomes]
rs55649582	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55650526	1.00[EUR][1000 genomes]
rs55664806	1.00[EUR][1000 genomes]
rs55857358	1.00[EUR][1000 genomes]
rs56752149	1.00[EUR][1000 genomes]
rs56760430	1.00[EUR][1000 genomes]
rs59310765	1.00[EUR][1000 genomes]
rs59651124	1.00[EUR][1000 genomes]
rs60506384	1.00[EUR][1000 genomes]
rs60743909	1.00[EUR][1000 genomes]
rs6427694	1.00[EUR][1000 genomes]
rs6666943	1.00[EUR][1000 genomes]
rs6678164	1.00[EUR][1000 genomes]
rs6683078	1.00[EUR][1000 genomes]
rs6684225	1.00[EUR][1000 genomes]
rs6685108	1.00[EUR][1000 genomes]
rs715737	1.00[EUR][1000 genomes]
rs7515974	1.00[EUR][1000 genomes]
rs7527520	1.00[EUR][1000 genomes]
rs7530737	1.00[EUR][1000 genomes]
rs7537595	1.00[EUR][1000 genomes]
rs7556118	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9659545	1.00[EUR][1000 genomes]
rs9804125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:13 , 50 per page) page: 1

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

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