Variant report

Variant	rs4653955
Chromosome Location	chr1:224292317-224292318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10737430	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10737435	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10737437	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753448	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753453	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753455	0.83[AFR][1000 genomes]
rs10799483	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10799486	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916326	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916328	0.86[AFR][1000 genomes]
rs10916351	0.83[AFR][1000 genomes]
rs10916388	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804140	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313058	1.00[ASN][1000 genomes]
rs1586888	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602706	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810344	0.89[AFR][1000 genomes]
rs1891738	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891739	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035897	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048994	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172359	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404844	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404845	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404846	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404847	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896984	0.87[AFR][1000 genomes]
rs2896986	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353057	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653565	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4653956	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653985	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4653987	0.85[AFR][1000 genomes]
rs56718298	1.00[ASN][1000 genomes]
rs56887412	1.00[ASN][1000 genomes]
rs57138220	1.00[ASN][1000 genomes]
rs57746928	1.00[ASN][1000 genomes]
rs57823919	1.00[ASN][1000 genomes]
rs58090997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59018039	1.00[ASN][1000 genomes]
rs59368039	1.00[ASN][1000 genomes]
rs59518883	1.00[ASN][1000 genomes]
rs59819476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60013765	1.00[ASN][1000 genomes]
rs60381264	1.00[ASN][1000 genomes]
rs60432349	1.00[ASN][1000 genomes]
rs60643079	1.00[ASN][1000 genomes]
rs60972853	1.00[ASN][1000 genomes]
rs61074366	1.00[ASN][1000 genomes]
rs61144016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61347348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61495337	1.00[ASN][1000 genomes]
rs6426108	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426112	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426135	0.97[AFR][1000 genomes]
rs6426162	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657160	0.86[AFR][1000 genomes]
rs6659249	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663997	1.00[ASN][1000 genomes]
rs6668856	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670475	1.00[ASN][1000 genomes]
rs6670483	1.00[ASN][1000 genomes]
rs6670591	1.00[ASN][1000 genomes]
rs6671784	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679683	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687331	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689914	1.00[ASN][1000 genomes]
rs6689922	1.00[ASN][1000 genomes]
rs6690358	1.00[ASN][1000 genomes]
rs6690543	1.00[ASN][1000 genomes]
rs6696409	0.85[AFR][1000 genomes]
rs6702019	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704386	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120501	1.00[ASN][1000 genomes]
rs73122403	1.00[ASN][1000 genomes]
rs73122404	1.00[ASN][1000 genomes]
rs73122411	1.00[ASN][1000 genomes]
rs73122413	1.00[ASN][1000 genomes]
rs73122436	1.00[ASN][1000 genomes]
rs73122438	1.00[ASN][1000 genomes]
rs73122441	1.00[ASN][1000 genomes]
rs73122446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526301	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526876	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7535007	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537121	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908796	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937155	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969009	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224289800-224294200	Weak transcription	K562	blood
2	chr1:224291600-224301600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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