Variant report

Variant	rs61185121
Chromosome Location	chr1:227049122-227049123
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	chr1:227045661..227050211-chr1:227053920..227059739,5	K562	blood:

Variant related genes	Relation type
ENSG00000143801	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12069540	0.93[ASN][1000 genomes]
rs1341281	1.00[EUR][1000 genomes]
rs1341282	1.00[EUR][1000 genomes]
rs16846590	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213437	0.86[AMR][1000 genomes]
rs4520384	1.00[EUR][1000 genomes]
rs57594469	1.00[EUR][1000 genomes]
rs58698650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58973334	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59683545	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59692841	1.00[EUR][1000 genomes]
rs60294511	1.00[EUR][1000 genomes]
rs60560949	1.00[EUR][1000 genomes]
rs61103575	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61477394	0.93[AMR][1000 genomes]
rs61674281	0.89[AFR][1000 genomes]
rs6426539	1.00[EUR][1000 genomes]
rs6426540	1.00[EUR][1000 genomes]
rs6671059	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139805	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74139806	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74139837	0.80[AFR][1000 genomes]
rs74139838	0.80[AFR][1000 genomes]
rs74139842	0.87[AFR][1000 genomes]
rs7522645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523790	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555672	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4766	chr1:227025954-227070961	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3381082	chr1:227029266-227059927	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227044200-227050400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:227045200-227057800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:227047200-227050800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:227047400-227050600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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