Variant report

Variant	rs41520948
Chromosome Location	chr4:119179095-119179096
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119177257..119180646-chr4:119198424..119200043,3	K562	blood:
2	chr4:119178183..119181452-chr4:119198246..119201177,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001247	0.95[EUR][1000 genomes]
rs10001520	0.95[EUR][1000 genomes]
rs10004607	0.95[EUR][1000 genomes]
rs10007918	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10012051	0.90[EUR][1000 genomes]
rs10014402	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10019969	0.95[EUR][1000 genomes]
rs10020944	0.95[EUR][1000 genomes]
rs10021970	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10023656	0.95[EUR][1000 genomes]
rs10024765	0.85[EUR][1000 genomes]
rs10028343	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10028980	0.95[EUR][1000 genomes]
rs10518291	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11930405	0.95[EUR][1000 genomes]
rs11931778	0.95[EUR][1000 genomes]
rs11931869	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11934128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934324	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935016	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942654	0.85[EUR][1000 genomes]
rs11944236	1.00[EUR][1000 genomes]
rs11945958	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946833	1.00[EUR][1000 genomes]
rs11946941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11947911	0.95[EUR][1000 genomes]
rs13434652	0.95[EUR][1000 genomes]
rs13434825	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1589719	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049622	0.95[EUR][1000 genomes]
rs17049625	0.95[EUR][1000 genomes]
rs17049650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049690	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049693	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049694	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049695	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049697	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049698	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049699	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049700	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049718	0.87[EUR][1000 genomes]
rs1829910	1.00[EUR][1000 genomes]
rs1829911	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28374287	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28507199	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28515963	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28536042	0.95[EUR][1000 genomes]
rs28562324	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28589481	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648504	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28665669	0.90[EUR][1000 genomes]
rs28667401	0.95[EUR][1000 genomes]
rs28668316	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28683619	0.86[EUR][1000 genomes]
rs28690846	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28734874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28826087	0.85[EUR][1000 genomes]
rs28848859	0.95[EUR][1000 genomes]
rs28851582	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28856120	0.95[EUR][1000 genomes]
rs28882407	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41278063	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41278065	1.00[EUR][1000 genomes]
rs4147036	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4147037	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs4147038	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4147039	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4147040	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4557347	0.95[EUR][1000 genomes]
rs60958074	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61390934	0.95[EUR][1000 genomes]
rs6824418	1.00[EUR][1000 genomes]
rs6842491	0.95[EUR][1000 genomes]
rs6845921	0.87[EUR][1000 genomes]
rs6848301	0.95[EUR][1000 genomes]
rs6856765	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919205	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919279	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7654652	0.95[EUR][1000 genomes]
rs9968544	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9992747	0.95[EUR][1000 genomes]
rs9998199	0.95[EUR][1000 genomes]
rs9998981	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9999336	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr4:119175200-119180600	Strong transcription	Dnd41	blood
2	chr4:119177000-119181200	Weak transcription	Stomach Mucosa	stomach

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