Variant report

Variant	rs56717024
Chromosome Location	chr2:98295171-98295172
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98294916..98296768-chr2:98299787..98302603,2	K562	blood:
2	chr2:98284536..98287001-chr2:98294282..98297040,2	MCF-7	breast:
3	chr2:98288466..98292102-chr2:98293593..98297328,6	K562	blood:
4	chr2:98261851..98263583-chr2:98294061..98295719,2	K562	blood:
5	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:
6	chr2:98292299..98294118-chr2:98294260..98295884,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115073	Chromatin interaction
ENSG00000135940	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000201806	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10460480	1.00[AMR][1000 genomes]
rs17022096	1.00[AMR][1000 genomes]
rs17022495	1.00[AMR][1000 genomes]
rs17028435	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028568	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028640	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028771	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17028924	0.82[AFR][1000 genomes]
rs17029878	0.82[AFR][1000 genomes]
rs17031009	1.00[AMR][1000 genomes]
rs17695937	0.95[ASN][1000 genomes]
rs2071038	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167008	1.00[AMR][1000 genomes]
rs2290123	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290126	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290127	1.00[ASN][1000 genomes]
rs34459720	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35321033	1.00[ASN][1000 genomes]
rs35530168	1.00[ASN][1000 genomes]
rs55637939	1.00[AMR][1000 genomes]
rs55757705	1.00[ASN][1000 genomes]
rs55766309	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55933640	1.00[ASN][1000 genomes]
rs56035334	1.00[ASN][1000 genomes]
rs56045386	1.00[AMR][1000 genomes]
rs56233535	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56381875	1.00[AMR][1000 genomes]
rs56894046	1.00[AMR][1000 genomes]
rs57002448	1.00[AMR][1000 genomes]
rs57183691	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57875000	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58059561	1.00[AMR][1000 genomes]
rs58321192	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58383658	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs58753916	1.00[AMR][1000 genomes]
rs59021370	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59060391	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59134572	1.00[AMR][1000 genomes]
rs59168350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59340312	1.00[AMR][1000 genomes]
rs60226695	0.83[EUR][1000 genomes]
rs60599690	1.00[AMR][1000 genomes]
rs60713338	1.00[AMR][1000 genomes]
rs61016336	1.00[AMR][1000 genomes]
rs62157581	1.00[ASN][1000 genomes]
rs6542982	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753752	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951131	0.94[ASN][1000 genomes]
rs72951140	1.00[AMR][1000 genomes]
rs73959761	1.00[AMR][1000 genomes]
rs73959772	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7425883	1.00[ASN][1000 genomes]
rs9678135	0.82[AFR][1000 genomes];1.00[AMR][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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3451326	chr2:98289174-98304076	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98323800	Weak transcription	Gastric	stomach
2	chr2:98281400-98295200	Weak transcription	Esophagus	oesophagus
3	chr2:98281600-98295400	Weak transcription	Right Ventricle	heart
4	chr2:98281600-98298800	Weak transcription	Aorta	Aorta
5	chr2:98281800-98296200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:98281800-98296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:98291600-98298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:98292200-98317800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:98294600-98295400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:98294800-98295200	Enhancers	K562	blood

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