Variant report

Variant	rs73099811
Chromosome Location	chr5:60465926-60465927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60463482..60466191-chr5:60507654..60510350,2	MCF-7	breast:
2	chr5:60464941..60466921-chr5:60605078..60607461,2	MCF-7	breast:
3	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
4	chr5:60457686..60461710-chr5:60461785..60466060,5	MCF-7	breast:
5	chr5:60464303..60466155-chr5:60475802..60477971,2	K562	blood:
6	chr5:60457400..60460151-chr5:60465192..60468109,3	MCF-7	breast:
7	chr5:60454738..60463245-chr5:60465333..60477980,25	K562	blood:
8	chr5:60464487..60466680-chr5:60468300..60471010,2	K562	blood:
9	chr5:60464643..60466155-chr5:60475802..60478493,2	K562	blood:
10	chr5:60463738..60466633-chr5:60467001..60468550,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10035893	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10043790	0.87[AMR][1000 genomes]
rs10044183	1.00[AMR][1000 genomes]
rs10050696	1.00[AMR][1000 genomes]
rs10051150	1.00[AMR][1000 genomes]
rs10056202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058726	1.00[AMR][1000 genomes]
rs10064129	1.00[AMR][1000 genomes]
rs10064292	0.87[AMR][1000 genomes]
rs10067476	0.87[AMR][1000 genomes]
rs10069623	1.00[AMR][1000 genomes]
rs10077508	1.00[AMR][1000 genomes]
rs10471504	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12110162	1.00[AMR][1000 genomes]
rs12696977	0.87[AMR][1000 genomes]
rs13355940	0.87[AMR][1000 genomes]
rs13360962	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13362092	0.87[AMR][1000 genomes]
rs2045678	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2161199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28411035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446443	1.00[AMR][1000 genomes]
rs28534860	1.00[AMR][1000 genomes]
rs28582880	1.00[AMR][1000 genomes]
rs28781684	0.87[AMR][1000 genomes]
rs28816681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28888995	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4647029	0.87[AMR][1000 genomes]
rs4647036	0.87[AMR][1000 genomes]
rs4647061	0.87[AMR][1000 genomes]
rs4647079	1.00[AMR][1000 genomes]
rs56791802	0.87[AMR][1000 genomes]
rs57818831	0.87[AMR][1000 genomes]
rs58495922	0.87[AMR][1000 genomes]
rs59030859	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6887938	1.00[AMR][1000 genomes]
rs6894736	1.00[AMR][1000 genomes]
rs73095990	0.87[AMR][1000 genomes]
rs73095991	1.00[AMR][1000 genomes]
rs73095993	0.87[AMR][1000 genomes]
rs73099808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114340	1.00[AMR][1000 genomes]
rs7704436	0.87[AMR][1000 genomes]
rs7716539	1.00[AMR][1000 genomes]
rs7720240	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728655	0.87[AMR][1000 genomes]
rs7731888	1.00[AMR][1000 genomes]
rs7734656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735610	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9291698	1.00[AMR][1000 genomes]
rs9291699	0.87[AMR][1000 genomes]
rs9291703	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9968618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60460000-60469000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:60460000-60473000	Weak transcription	HSMM	muscle
3	chr5:60460400-60467200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:60460400-60470400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:60460400-60475000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:60463800-60472600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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