Variant report

Variant	rs10948231
Chromosome Location	chr6:45355824-45355825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45344406..45349479-chr6:45352255..45358580,11	MCF-7	breast:
2	chr6:45355709..45357704-chr6:45363797..45365580,2	K562	blood:
3	chr6:45354546..45357105-chr6:45376893..45379533,2	K562	blood:
4	chr6:45354962..45357015-chr6:45358348..45360567,3	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10948225	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10948227	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10948228	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10948230	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12209727	0.89[ASN][1000 genomes]
rs12524270	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12525603	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12525950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526462	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12526484	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12526807	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12527586	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12527743	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12529295	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12529907	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12660412	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12662664	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12662685	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12663469	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1284962	0.82[AMR][1000 genomes]
rs1284964	0.82[AMR][1000 genomes]
rs1284967	0.82[AMR][1000 genomes]
rs1321081	0.89[ASN][1000 genomes]
rs1406848	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16873257	0.84[AMR][1000 genomes]
rs16873345	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16873348	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16873364	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16873366	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16873373	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16873379	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17288334	0.89[ASN][1000 genomes]
rs1748240	0.81[AMR][1000 genomes]
rs1852985	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1853652	0.84[AMR][1000 genomes]
rs2024786	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2024787	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2057552	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2295295	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2295296	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2396426	0.82[AMR][1000 genomes]
rs2396502	0.87[ASN][1000 genomes]
rs2763134	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2815263	0.82[AMR][1000 genomes]
rs28360524	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34677014	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35565233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763190	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4236086	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4312985	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4339452	0.83[AMR][1000 genomes]
rs4341001	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4401652	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4441951	0.84[AMR][1000 genomes]
rs4510673	0.89[ASN][1000 genomes]
rs4521586	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4521587	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4590263	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4711813	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4711814	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4714842	0.84[AMR][1000 genomes]
rs4714850	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4714853	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55959525	0.83[AMR][1000 genomes]
rs56175185	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56243649	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58100797	0.81[EUR][1000 genomes]
rs59983488	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60346641	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60826731	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62400336	0.89[ASN][1000 genomes]
rs6458432	0.85[AMR][1000 genomes]
rs6458433	0.82[EUR][1000 genomes]
rs6458435	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6458440	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6901161	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6905959	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6926638	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6932926	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6936475	0.82[AMR][1000 genomes]
rs6940983	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs717987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73735337	0.83[AMR][1000 genomes]
rs73735338	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73735357	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73735369	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73735375	0.82[AMR][1000 genomes]
rs73735378	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7760112	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9369549	0.82[AMR][1000 genomes]
rs967588	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45354200-45356000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr6:45354200-45356200	Enhancers	HSMMtube	muscle
3	chr6:45354200-45357400	Enhancers	HSMM	muscle
4	chr6:45354200-45358600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:45354400-45356400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:45354400-45356800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:45354400-45357400	Enhancers	NHDF-Ad	bronchial
8	chr6:45354400-45358200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:45354800-45357400	Enhancers	NHLF	lung
10	chr6:45355000-45356200	Enhancers	Placenta	Placenta
11	chr6:45355000-45356400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:45355000-45356400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:45355200-45356000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:45355200-45357200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:45355600-45356000	Enhancers	Osteobl	bone

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