Variant report

Variant	rs7972668
Chromosome Location	chr12:60739752-60739753
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60733477..60735861-chr12:60737508..60740002,2	MCF-7	breast:
2	chr12:60731984..60734380-chr12:60739719..60741261,2	K562	blood:

Variant related genes	Relation type
ENSG00000252607	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1021887	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10784046	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10877414	0.80[EUR][1000 genomes]
rs10877422	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11173395	0.80[EUR][1000 genomes]
rs11173396	0.80[EUR][1000 genomes]
rs11173397	0.80[EUR][1000 genomes]
rs11173398	0.80[EUR][1000 genomes]
rs11173405	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11173407	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11173414	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173416	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11173418	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11173437	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173438	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173439	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1125188	0.80[EUR][1000 genomes]
rs11536139	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12228227	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12231371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580142	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580151	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319633	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1394328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394330	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504459	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1504460	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504462	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1504463	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1504464	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1532810	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1532811	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566847	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1580916	0.88[EUR][1000 genomes]
rs1604865	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1604866	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1604867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17606011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17606158	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17606266	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17606387	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17606458	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17669416	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1827638	0.88[EUR][1000 genomes]
rs1875860	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1995514	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2102257	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2102258	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2221407	0.80[EUR][1000 genomes]
rs2262939	0.88[EUR][1000 genomes]
rs2363585	0.81[ASN][1000 genomes]
rs2363587	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2455998	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2655842	0.89[EUR][1000 genomes]
rs2655843	0.89[EUR][1000 genomes]
rs2655846	0.88[EUR][1000 genomes]
rs2655848	0.89[EUR][1000 genomes]
rs2655856	0.88[EUR][1000 genomes]
rs2655893	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2731487	0.89[EUR][1000 genomes]
rs2731488	0.89[EUR][1000 genomes]
rs2731491	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2731492	0.89[EUR][1000 genomes]
rs3901470	0.80[EUR][1000 genomes]
rs4353306	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4583008	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4616072	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4638340	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4758863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810124	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56088032	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56173629	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60691341	0.80[EUR][1000 genomes]
rs60798845	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61925560	0.80[EUR][1000 genomes]
rs6581318	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136835	0.82[EUR][1000 genomes]
rs7305978	0.85[EUR][1000 genomes]
rs7307028	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7952971	0.80[EUR][1000 genomes]
rs7961791	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971161	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7975549	0.88[EUR][1000 genomes]
rs905722	0.80[EUR][1000 genomes]
rs924835	0.80[EUR][1000 genomes]
rs924836	0.80[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	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047466	chr12:60702221-61521156	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983465	chr12:60721408-60752940	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2762983	chr12:60735475-60767081	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60739200-60740000	Enhancers	HMEC	breast
2	chr12:60739400-60740000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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