Variant report

Variant	rs2430410
Chromosome Location	chr1:223370453-223370454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223363492..223366488-chr1:223370003..223372066,2	K562	blood:
2	chr1:223361957..223364992-chr1:223369104..223372360,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11485986	0.93[ASN][1000 genomes]
rs1612521	1.00[ASN][1000 genomes]
rs1773719	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773722	1.00[ASN][1000 genomes]
rs1773723	1.00[ASN][1000 genomes]
rs2160152	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2430407	0.95[ASN][1000 genomes]
rs2430408	0.95[ASN][1000 genomes]
rs3121256	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35797130	1.00[ASN][1000 genomes]
rs3768284	0.95[ASN][1000 genomes]
rs4661283	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4661284	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712862	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs712863	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs712865	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs725972	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73120253	0.89[ASN][1000 genomes]
rs73120267	0.91[ASN][1000 genomes]
rs73120269	0.91[ASN][1000 genomes]
rs851140	0.87[EUR][1000 genomes]
rs851144	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851146	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851147	0.87[EUR][1000 genomes]
rs851151	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851156	0.87[EUR][1000 genomes]
rs851160	0.91[ASN][1000 genomes]
rs851163	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
2	chr1:223368800-223371200	Enhancers	Stomach Mucosa	stomach
3	chr1:223369000-223373600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:223369200-223370800	Enhancers	Fetal Lung	lung
5	chr1:223369400-223373800	Weak transcription	Fetal Thymus	thymus
6	chr1:223370200-223371400	Enhancers	Pancreas	Pancrea
7	chr1:223370400-223370600	Enhancers	Gastric	stomach

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