Variant report

Variant	rs4638340
Chromosome Location	chr12:60729645-60729646
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60722184..60725266-chr12:60727493..60729736,3	K562	blood:
2	chr12:60728334..60729912-chr12:60733867..60736379,2	MCF-7	breast:
3	chr12:60721131..60724243-chr12:60726194..60729736,3	K562	blood:

Variant related genes	Relation type
ENSG00000252607	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1021887	0.88[EUR][1000 genomes]
rs10784046	0.88[EUR][1000 genomes]
rs10877422	0.83[EUR][1000 genomes]
rs11173386	0.80[EUR][1000 genomes]
rs11173396	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11173405	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11173407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11173414	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11173416	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11173418	0.83[EUR][1000 genomes]
rs11173437	0.83[EUR][1000 genomes]
rs11173438	0.83[EUR][1000 genomes]
rs11173439	0.83[EUR][1000 genomes]
rs1125188	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11536139	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12228227	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12228823	0.80[EUR][1000 genomes]
rs12230599	0.80[EUR][1000 genomes]
rs12231371	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12231943	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12580142	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12580151	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1319633	0.83[EUR][1000 genomes]
rs1394328	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1394330	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1504442	0.80[EUR][1000 genomes]
rs1504443	0.80[EUR][1000 genomes]
rs1504459	0.83[EUR][1000 genomes]
rs1504460	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1504462	0.83[EUR][1000 genomes]
rs1504463	0.83[EUR][1000 genomes]
rs1504464	0.83[EUR][1000 genomes]
rs1532810	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1532811	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1566847	0.82[EUR][1000 genomes]
rs1604866	0.88[EUR][1000 genomes]
rs1604867	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1604868	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1604869	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17606011	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17606158	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17606266	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17606387	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17606458	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17669416	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1875860	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2102258	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2363587	0.84[EUR][1000 genomes]
rs3901470	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4353306	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4583008	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4616072	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4758859	0.80[EUR][1000 genomes]
rs4758863	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55810124	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56088032	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56173629	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60798845	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61487567	0.81[EUR][1000 genomes]
rs61923124	0.80[EUR][1000 genomes]
rs61923127	0.80[EUR][1000 genomes]
rs61923129	0.80[EUR][1000 genomes]
rs61923130	0.81[EUR][1000 genomes]
rs61923132	0.81[EUR][1000 genomes]
rs61923156	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61923157	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61925560	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6581318	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7134267	0.82[EUR][1000 genomes]
rs7136835	0.89[EUR][1000 genomes]
rs7305978	0.85[EUR][1000 genomes]
rs7307028	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7961791	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7971161	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7972668	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7975549	0.87[EUR][1000 genomes]
rs905722	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs924835	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9634280	0.80[EUR][1000 genomes]
rs9634281	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60726600-60730200	Enhancers	HUVEC	blood vessel
2	chr12:60729200-60729800	Enhancers	NH-A	brain
3	chr12:60729200-60730000	Enhancers	Hela-S3	cervix
4	chr12:60729200-60730000	Enhancers	NHEK	skin
5	chr12:60729400-60729800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:60729400-60729800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:60729400-60730000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:60729400-60730000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:60729400-60730000	Flanking Active TSS	A549	lung
10	chr12:60729400-60730000	Enhancers	HMEC	breast
11	chr12:60729600-60730000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:60729600-60730000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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