Variant report

Variant	rs568793
Chromosome Location	chr12:57840308-57840309
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57836449..57839074-chr12:57840198..57842382,2	K562	blood:
2	chr12:57840047..57842251-chr12:57842325..57845247,2	K562	blood:
3	chr12:57822524..57826949-chr12:57837414..57841914,6	MCF-7	breast:
4	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:

Variant related genes	Relation type
ENSG00000258001	Chromatin interaction
ENSG00000175189	Chromatin interaction
ENSG00000179912	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10747777	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10783818	0.80[JPT][hapmap]
rs10783819	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10783823	0.82[ASN][1000 genomes]
rs10876976	0.80[JPT][hapmap];0.80[EUR][1000 genomes]
rs10876978	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876981	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10876983	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11172156	0.80[JPT][hapmap]
rs11172169	0.81[JPT][hapmap]
rs11172170	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11172190	0.81[JPT][hapmap]
rs11172205	0.82[EUR][1000 genomes]
rs11172211	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11172214	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172222	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12230111	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12296766	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs12310220	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs12423654	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12579911	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12812140	0.81[CHB][hapmap]
rs1284252	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1798710	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2063778	0.80[JPT][hapmap];0.82[EUR][1000 genomes]
rs2280139	0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28504983	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2943693	0.84[JPT][hapmap]
rs4075325	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4108243	0.85[EUR][1000 genomes]
rs4760228	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4760236	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4760244	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760305	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4760306	0.85[EUR][1000 genomes]
rs481196	0.86[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs491750	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs492749	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs507562	0.80[JPT][hapmap]
rs512223	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs533975	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs537482	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs543410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs560048	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs567895	0.84[JPT][hapmap]
rs575153	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581131	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs6581134	0.85[CHB][hapmap]
rs6581136	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6581139	0.82[ASN][1000 genomes]
rs7132367	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7133939	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7135142	0.80[JPT][hapmap]
rs7298418	0.80[JPT][hapmap]
rs7303070	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7307059	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs7309659	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs7398058	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs7486863	0.80[JPT][hapmap]
rs7980310	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9738004	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 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	chr12:57825600-57848600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57829400-57843200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57833400-57843600	Weak transcription	HepG2	liver
4	chr12:57840000-57841000	Enhancers	Liver	Liver

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