Variant report

Variant	rs28374287
Chromosome Location	chr4:119160652-119160653
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119159048..119162234-chr4:119163656..119166520,3	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10001247	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10001520	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10004607	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10007918	1.00[EUR][1000 genomes]
rs10012051	0.90[EUR][1000 genomes]
rs10014402	1.00[EUR][1000 genomes]
rs10019969	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10020944	0.95[EUR][1000 genomes]
rs10021970	0.86[EUR][1000 genomes]
rs10023656	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10024765	0.85[EUR][1000 genomes]
rs10028343	1.00[EUR][1000 genomes]
rs10028980	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10518291	1.00[EUR][1000 genomes]
rs11930405	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11931778	0.95[EUR][1000 genomes]
rs11931869	0.87[EUR][1000 genomes]
rs11934128	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935016	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942654	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11944236	1.00[EUR][1000 genomes]
rs11945958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946833	1.00[EUR][1000 genomes]
rs11946941	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11947911	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13105764	0.89[AFR][1000 genomes]
rs13434652	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13434825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1589719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049622	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17049625	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17049650	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049676	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049690	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049693	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049694	1.00[EUR][1000 genomes]
rs17049695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049697	1.00[EUR][1000 genomes]
rs17049698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049706	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049718	0.87[EUR][1000 genomes]
rs1829910	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1829911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28507199	0.95[EUR][1000 genomes]
rs28515963	1.00[EUR][1000 genomes]
rs28536042	0.95[EUR][1000 genomes]
rs28562324	0.95[EUR][1000 genomes]
rs28589481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28665669	0.90[EUR][1000 genomes]
rs28667401	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28668316	0.95[EUR][1000 genomes]
rs28683619	0.86[EUR][1000 genomes]
rs28690846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28734874	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28826087	0.85[EUR][1000 genomes]
rs28848859	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28851582	0.86[EUR][1000 genomes]
rs28856120	0.95[EUR][1000 genomes]
rs28882407	0.95[EUR][1000 genomes]
rs34062804	0.89[AFR][1000 genomes]
rs34618724	0.89[AFR][1000 genomes]
rs35000235	0.84[AFR][1000 genomes]
rs41278063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41278065	1.00[EUR][1000 genomes]
rs4147036	1.00[EUR][1000 genomes]
rs4147037	0.87[EUR][1000 genomes]
rs4147038	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4147039	1.00[EUR][1000 genomes]
rs4147040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41520948	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4557347	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60958074	1.00[EUR][1000 genomes]
rs61390934	0.95[EUR][1000 genomes]
rs6824418	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6842491	0.95[EUR][1000 genomes]
rs6845921	0.98[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6848301	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6856765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71608357	0.84[AFR][1000 genomes]
rs72919205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919235	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919237	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919245	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919247	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919251	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919254	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919264	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919267	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919272	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919275	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919276	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919279	0.95[EUR][1000 genomes]
rs7654652	0.95[EUR][1000 genomes]
rs9968544	0.95[EUR][1000 genomes]
rs9992747	0.95[EUR][1000 genomes]
rs9998199	0.95[EUR][1000 genomes]
rs9998981	0.95[EUR][1000 genomes]
rs9999336	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119154800-119165600	Strong transcription	Dnd41	blood
2	chr4:119159800-119161400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:119160000-119161200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:119160000-119161600	Enhancers	HUES48 Cell Line	embryonic stem cell

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