Variant report

Variant	rs10001247
Chromosome Location	chr4:119091593-119091594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10001520	1.00[EUR][1000 genomes]
rs10004607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10007918	0.95[EUR][1000 genomes]
rs10012051	0.95[EUR][1000 genomes]
rs10014402	0.95[EUR][1000 genomes]
rs10019969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10020944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10021970	0.90[EUR][1000 genomes]
rs10023656	1.00[EUR][1000 genomes]
rs10028343	0.95[EUR][1000 genomes]
rs10028980	1.00[EUR][1000 genomes]
rs10518291	0.95[EUR][1000 genomes]
rs11930405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11931778	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11931869	0.83[EUR][1000 genomes]
rs11934128	0.95[EUR][1000 genomes]
rs11934324	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11935016	0.95[EUR][1000 genomes]
rs11942654	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11944236	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11945958	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11946833	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11946941	0.95[EUR][1000 genomes]
rs11947911	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13434652	1.00[EUR][1000 genomes]
rs13434825	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1589719	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17049622	1.00[EUR][1000 genomes]
rs17049625	1.00[EUR][1000 genomes]
rs17049650	0.95[EUR][1000 genomes]
rs17049676	0.95[EUR][1000 genomes]
rs17049690	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17049693	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17049694	0.95[EUR][1000 genomes]
rs17049695	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17049697	0.95[EUR][1000 genomes]
rs17049698	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17049699	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17049700	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17049706	0.95[EUR][1000 genomes]
rs17049718	0.83[EUR][1000 genomes]
rs1829910	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1829911	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28374287	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28507199	1.00[EUR][1000 genomes]
rs28515963	0.95[EUR][1000 genomes]
rs28536042	1.00[EUR][1000 genomes]
rs28562324	1.00[EUR][1000 genomes]
rs28589481	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28648504	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28665669	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28667401	1.00[EUR][1000 genomes]
rs28668316	1.00[EUR][1000 genomes]
rs28683619	0.90[EUR][1000 genomes]
rs28690846	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28734874	0.95[EUR][1000 genomes]
rs28826087	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28848859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28851582	0.90[EUR][1000 genomes]
rs28856120	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28882407	1.00[EUR][1000 genomes]
rs41278063	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41278065	0.95[EUR][1000 genomes]
rs4147036	0.95[EUR][1000 genomes]
rs4147037	0.83[EUR][1000 genomes]
rs4147038	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4147039	0.95[EUR][1000 genomes]
rs4147040	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41520948	0.95[EUR][1000 genomes]
rs4557347	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60958074	0.95[EUR][1000 genomes]
rs61390934	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6823328	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6824418	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6842491	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845921	0.83[EUR][1000 genomes]
rs6848301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6856765	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72919205	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72919235	0.95[EUR][1000 genomes]
rs72919237	0.95[EUR][1000 genomes]
rs72919245	0.95[EUR][1000 genomes]
rs72919247	0.95[EUR][1000 genomes]
rs72919251	0.95[EUR][1000 genomes]
rs72919254	0.95[EUR][1000 genomes]
rs72919259	0.95[EUR][1000 genomes]
rs72919264	0.95[EUR][1000 genomes]
rs72919267	0.95[EUR][1000 genomes]
rs72919272	0.95[EUR][1000 genomes]
rs72919275	0.95[EUR][1000 genomes]
rs72919276	0.95[EUR][1000 genomes]
rs72919279	0.91[EUR][1000 genomes]
rs7654652	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9968544	0.90[EUR][1000 genomes]
rs9992747	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9998199	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9998981	1.00[EUR][1000 genomes]
rs9999336	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1008236	chr4:118989467-119154024	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999152	chr4:119001143-119138322	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr4:119089400-119093400	Genic enhancers	Dnd41	blood
2	chr4:119090200-119092800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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