Variant report

Variant	rs167518
Chromosome Location	chr1:86272696-86272697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10873731	0.89[ASN][1000 genomes]
rs11161693	0.91[ASN][1000 genomes]
rs11161695	0.91[ASN][1000 genomes]
rs12029238	0.91[ASN][1000 genomes]
rs12124109	0.91[ASN][1000 genomes]
rs12127479	0.91[ASN][1000 genomes]
rs172693	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs172694	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17411495	0.91[ASN][1000 genomes]
rs188763	0.89[ASN][1000 genomes]
rs1904947	0.91[ASN][1000 genomes]
rs2256515	0.91[ASN][1000 genomes]
rs2795038	0.91[ASN][1000 genomes]
rs313701	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313702	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313705	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313707	0.94[ASN][1000 genomes]
rs313709	0.94[ASN][1000 genomes]
rs313738	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs313739	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313740	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313741	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313742	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313743	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313744	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313745	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313746	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313749	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313754	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs313756	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313757	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313760	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313761	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313762	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs313764	0.91[ASN][1000 genomes]
rs313765	0.84[ASN][1000 genomes]
rs313766	0.91[ASN][1000 genomes]
rs313767	0.87[ASN][1000 genomes]
rs313768	0.91[ASN][1000 genomes]
rs313769	0.91[ASN][1000 genomes]
rs313770	0.91[ASN][1000 genomes]
rs313771	0.83[ASN][1000 genomes]
rs313772	0.84[ASN][1000 genomes]
rs313774	0.89[ASN][1000 genomes]
rs313775	0.91[ASN][1000 genomes]
rs383588	0.94[ASN][1000 genomes]
rs428475	0.91[ASN][1000 genomes]
rs437257	0.91[ASN][1000 genomes]
rs445782	0.91[ASN][1000 genomes]
rs556247	0.91[ASN][1000 genomes]
rs61785081	0.91[ASN][1000 genomes]
rs61785083	0.90[ASN][1000 genomes]
rs7524286	0.91[ASN][1000 genomes]
rs7536101	0.91[ASN][1000 genomes]
rs7544141	0.91[ASN][1000 genomes]
rs7549218	0.82[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1011293	chr1:86270649-86416972	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86257200-86274000	Weak transcription	Fetal Lung	lung
2	chr1:86267400-86273400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86269000-86274000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86271000-86274000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:86271800-86272800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:86272400-86272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:86272400-86272800	Enhancers	Fetal Brain Female	brain
8	chr1:86272400-86272800	Enhancers	Stomach Mucosa	stomach
9	chr1:86272600-86274000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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