Variant report

Variant	rs10428702
Chromosome Location	chr5:95390839-95390840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95384196..95387378-chr5:95390090..95391967,3	K562	blood:
2	chr5:95390171..95391884-chr5:95392902..95395243,2	K562	blood:

Variant related genes	Relation type
ENSG00000250551	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10428657	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515231	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs10515233	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs10515234	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948037	0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12514954	1.00[EUR][1000 genomes]
rs12515492	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs12517786	1.00[EUR][1000 genomes]
rs12522489	0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12523306	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17085220	1.00[EUR][1000 genomes]
rs17085223	1.00[EUR][1000 genomes]
rs17085224	0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17085227	0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17085243	1.00[EUR][1000 genomes]
rs17085339	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs17085366	0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17085373	0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17085393	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs17085426	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161317	0.82[JPT][hapmap]
rs28521883	1.00[EUR][1000 genomes]
rs3756701	0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3777174	0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs3777176	1.00[EUR][1000 genomes]
rs3777177	1.00[EUR][1000 genomes]
rs3777180	1.00[EUR][1000 genomes]
rs41276261	1.00[EUR][1000 genomes]
rs55763081	1.00[EUR][1000 genomes]
rs56776515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58389685	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60908902	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61268106	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6143071	1.00[EUR][1000 genomes]
rs6556897	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861075	0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6870388	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6872006	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6874371	1.00[EUR][1000 genomes]
rs6891082	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891633	0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893788	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771827	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7700606	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7724475	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7736480	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9687631	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977128	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs977129	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs981011	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522097	chr5:95347786-95425199	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522465	chr5:95347786-95425199	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95386400-95393800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:95386600-95393600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:95387000-95400600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:95387400-95400600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:95390400-95391000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:95390400-95391200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:95390600-95392000	Weak transcription	Aorta	Aorta

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