Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:178624491..178626803-chr2:178628555..178630115,2	K562	blood:
2	chr2:178627223..178631430-chr2:178636962..178640011,3	K562	blood:
3	chr2:178615690..178619114-chr2:178629203..178632242,4	K562	blood:
4	chr2:178625497..178630071-chr2:178630619..178633026,4	K562	blood:
5	chr2:178628572..178630202-chr2:178634599..178638462,3	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10497488	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10497489	0.88[ASN][1000 genomes]
rs10930806	0.88[ASN][1000 genomes]
rs13031632	0.88[ASN][1000 genomes]
rs1344925	0.88[ASN][1000 genomes]
rs1370655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1438041	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16865769	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17400325	0.84[AMR][1000 genomes]
rs34952652	0.88[ASN][1000 genomes]
rs3770028	0.88[ASN][1000 genomes]
rs3770043	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57427125	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57877880	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58408943	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59657949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60748325	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61551597	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62183002	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62183005	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183042	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62183043	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6731237	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73030327	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73030354	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs934798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr2:178628600-178630200	Weak transcription	K562	blood
2	chr2:178628600-178631200	Weak transcription	Pancreas	Pancrea
3	chr2:178628600-178632000	Weak transcription	HepG2	liver
4	chr2:178628600-178632600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:178628600-178636000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:178628600-178636000	Weak transcription	NHEK	skin
7	chr2:178628800-178632400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:178628800-178632600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:178628800-178632600	Weak transcription	Fetal Heart	heart
10	chr2:178629200-178635400	Weak transcription	Fetal Kidney	kidney

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