Variant report

Variant	rs1948353
Chromosome Location	chr4:100614892-100614893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100599846..100602289-chr4:100612890..100615438,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1027223	0.97[ASN][1000 genomes]
rs10516455	0.97[ASN][1000 genomes]
rs1115721	0.97[ASN][1000 genomes]
rs11722443	0.92[ASN][1000 genomes]
rs11730739	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11936303	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640222	0.91[ASN][1000 genomes]
rs12642668	0.85[ASN][1000 genomes]
rs12643245	0.92[ASN][1000 genomes]
rs12648843	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13111133	0.84[ASN][1000 genomes]
rs13111603	0.84[ASN][1000 genomes]
rs13112253	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13114983	0.81[ASN][1000 genomes]
rs13118288	0.95[ASN][1000 genomes]
rs13123629	0.95[ASN][1000 genomes]
rs13123690	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13124255	0.95[ASN][1000 genomes]
rs13130068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130949	0.83[EUR][1000 genomes]
rs13150247	0.92[ASN][1000 genomes]
rs1352775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1388295	0.95[ASN][1000 genomes]
rs1426734	0.84[ASN][1000 genomes]
rs1582793	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1586756	0.97[ASN][1000 genomes]
rs1586757	0.98[ASN][1000 genomes]
rs17029269	0.81[ASN][1000 genomes]
rs17029387	0.92[ASN][1000 genomes]
rs1816197	0.93[ASN][1000 genomes]
rs1834659	0.84[ASN][1000 genomes]
rs2866167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35215295	0.97[ASN][1000 genomes]
rs36098323	0.96[ASN][1000 genomes]
rs61705069	0.90[ASN][1000 genomes]
rs66931934	0.81[ASN][1000 genomes]
rs6831328	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6832692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6852647	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71614607	0.97[ASN][1000 genomes]
rs7670607	0.93[ASN][1000 genomes]
rs7677213	0.86[EUR][1000 genomes]
rs7677594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7678889	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7688255	0.84[ASN][1000 genomes]
rs7691498	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100612800-100618000	Weak transcription	Psoas Muscle	Psoas
2	chr4:100614000-100615000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:100614200-100615200	Enhancers	HUES48 Cell Line	embryonic stem cell

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