Variant report

Variant	rs73116448
Chromosome Location	chr1:224074107-224074108
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	chr1:224064879..224067819-chr1:224073518..224075866,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12038706	1.00[AMR][1000 genomes]
rs16842157	1.00[AMR][1000 genomes]
rs16842168	1.00[AMR][1000 genomes]
rs16842198	1.00[AMR][1000 genomes]
rs28370148	1.00[AMR][1000 genomes]
rs28370168	1.00[AMR][1000 genomes]
rs28370180	1.00[AMR][1000 genomes]
rs28370183	1.00[AMR][1000 genomes]
rs56831338	1.00[AMR][1000 genomes]
rs57108544	1.00[AMR][1000 genomes]
rs57153784	1.00[AMR][1000 genomes]
rs58391315	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59173114	1.00[AMR][1000 genomes]
rs60245976	1.00[AMR][1000 genomes]
rs60956486	1.00[AMR][1000 genomes]
rs73114404	1.00[AMR][1000 genomes]
rs73114482	1.00[AMR][1000 genomes]
rs73114500	1.00[AMR][1000 genomes]
rs73115632	1.00[AMR][1000 genomes]
rs73116433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73116444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127419	1.00[AMR][1000 genomes]
rs73127431	1.00[AMR][1000 genomes]
rs73127434	1.00[AMR][1000 genomes]
rs73127439	1.00[AMR][1000 genomes]
rs73128039	1.00[AMR][1000 genomes]
rs73128040	1.00[AMR][1000 genomes]
rs73128044	1.00[AMR][1000 genomes]
rs73131132	1.00[AMR][1000 genomes]
rs73131150	1.00[AMR][1000 genomes]
rs73131157	1.00[AMR][1000 genomes]
rs73131162	1.00[AMR][1000 genomes]
rs73131164	1.00[AMR][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	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1793921	chr1:224048131-224105965	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1817834	chr1:224052449-224095114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1803377	chr1:224052449-224108920	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv522556	chr1:224061898-224075483	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1818074	chr1:224069625-224092240	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224064200-224074400	Weak transcription	K562	blood
2	chr1:224072200-224076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:224072400-224076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:224073000-224077400	Enhancers	Liver	Liver
6	chr1:224073200-224074400	Enhancers	Pancreas	Pancrea
7	chr1:224073400-224075000	Enhancers	HepG2	liver
8	chr1:224073600-224076200	Enhancers	Psoas Muscle	Psoas
9	chr1:224074000-224074200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:224074000-224075400	Enhancers	Hela-S3	cervix

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