Variant report

Variant	rs1042388
Chromosome Location	chr1:158226667-158226668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12738822	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12738901	0.87[AMR][1000 genomes]
rs12745422	0.87[AMR][1000 genomes]
rs12751724	0.91[AMR][1000 genomes]
rs3181030	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34015891	0.87[AMR][1000 genomes]
rs34059172	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34120202	0.87[AMR][1000 genomes]
rs34250639	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34431925	0.87[AMR][1000 genomes]
rs34811385	0.91[AMR][1000 genomes]
rs34835673	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35136907	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35554638	0.87[AMR][1000 genomes]
rs35669445	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7527282	0.83[AMR][1000 genomes]
rs959518	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv508626	chr1:158161932-158242158	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1845799	chr1:158175976-158230829	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv831692	chr1:158223459-158392016	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv515666	chr1:158224825-158237062	Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158221600-158227200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:158224800-158227400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:158226000-158227600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
4	chr1:158226000-158229400	Genic enhancers	Dnd41	blood
5	chr1:158226400-158227000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
6	chr1:158226400-158227600	Weak transcription	Primary B cells from cord blood	blood
7	chr1:158226400-158227800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:158226600-158227000	Genic enhancers	Thymus	Thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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