Variant report

Variant	rs58585501
Chromosome Location	chr1:169140144-169140145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169139258..169142181-chr1:169147613..169149651,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10158265	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10158861	0.80[AMR][1000 genomes]
rs10919065	0.85[ASN][1000 genomes]
rs10919066	0.83[ASN][1000 genomes]
rs10919088	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10919102	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1200154	0.84[ASN][1000 genomes]
rs1200157	0.85[ASN][1000 genomes]
rs1200159	0.84[ASN][1000 genomes]
rs12023291	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025233	0.84[EUR][1000 genomes]
rs12029853	0.80[AMR][1000 genomes]
rs12032783	0.80[AMR][1000 genomes]
rs12033078	0.80[AMR][1000 genomes]
rs12037211	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12038609	0.80[AMR][1000 genomes]
rs12043489	0.80[AMR][1000 genomes]
rs12043545	0.80[AMR][1000 genomes]
rs12045202	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12047231	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2268048	0.80[AMR][1000 genomes]
rs2901029	0.84[ASN][1000 genomes]
rs3766058	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766089	0.80[AMR][1000 genomes]
rs3820058	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56341747	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61806986	0.80[AMR][1000 genomes]
rs61808865	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61808914	0.80[AMR][1000 genomes]
rs61808915	0.80[AMR][1000 genomes]
rs6664272	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685556	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7521338	0.80[AMR][1000 genomes]
rs9633334	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs968304	0.85[ASN][1000 genomes]
rs9804101	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9988595	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9988604	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169100800-169141400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:169104800-169142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:169121000-169140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:169121200-169141200	Weak transcription	Left Ventricle	heart
5	chr1:169121800-169143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:169130400-169195200	Weak transcription	Pancreas	Pancrea
7	chr1:169131400-169149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:169137600-169158000	Weak transcription	Primary T cells from cord blood	blood
9	chr1:169137800-169141800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:169138000-169140200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:169139000-169147000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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