Variant report

Variant	rs57300694
Chromosome Location	chr7:39935280-39935281
allele	G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:39934240..39937212-chr7:39987156..39990695,5	MCF-7	breast:
2	chr7:39932180..39934119-chr7:39934393..39936758,2	MCF-7	breast:
3	chr7:39662538..39665289-chr7:39934013..39936040,2	K562	blood:
4	chr7:39925804..39927840-chr7:39933103..39935350,2	MCF-7	breast:
5	chr7:39933698..39935841-chr7:40172009..40174486,2	MCF-7	breast:
6	chr7:39932888..39935926-chr7:39987671..39991292,5	MCF-7	breast:
7	chr7:39934810..39937643-chr7:39987808..39990500,2	K562	blood:
8	chr7:39925804..39928770-chr7:39934507..39936424,2	K562	blood:
9	chr7:39934010..39936310-chr7:39987808..39989967,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242855	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000168303	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000259826	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10228050	1.00[EUR][1000 genomes]
rs10236585	1.00[EUR][1000 genomes]
rs10241287	1.00[EUR][1000 genomes]
rs10241835	1.00[EUR][1000 genomes]
rs10244506	1.00[EUR][1000 genomes]
rs10256280	1.00[EUR][1000 genomes]
rs10256385	1.00[EUR][1000 genomes]
rs10257242	1.00[EUR][1000 genomes]
rs10258115	1.00[EUR][1000 genomes]
rs10259564	1.00[EUR][1000 genomes]
rs10267751	1.00[EUR][1000 genomes]
rs10270724	1.00[EUR][1000 genomes]
rs10271401	1.00[EUR][1000 genomes]
rs10275367	1.00[EUR][1000 genomes]
rs1060299	1.00[EUR][1000 genomes]
rs17171630	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171639	1.00[EUR][1000 genomes]
rs17171643	1.00[EUR][1000 genomes]
rs17171644	1.00[EUR][1000 genomes]
rs17171648	1.00[EUR][1000 genomes]
rs17171649	1.00[EUR][1000 genomes]
rs17496395	1.00[EUR][1000 genomes]
rs17537831	1.00[EUR][1000 genomes]
rs17538020	1.00[EUR][1000 genomes]
rs28374865	1.00[EUR][1000 genomes]
rs28714188	1.00[EUR][1000 genomes]
rs28823992	1.00[EUR][1000 genomes]
rs56885787	1.00[EUR][1000 genomes]
rs56890877	1.00[EUR][1000 genomes]
rs57667402	1.00[EUR][1000 genomes]
rs57765448	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58664547	0.93[AFR][1000 genomes]
rs58787667	1.00[EUR][1000 genomes]
rs59146346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59537889	1.00[EUR][1000 genomes]
rs59749446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60101070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60615872	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60806836	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61635237	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6462957	1.00[EUR][1000 genomes]
rs6462958	1.00[EUR][1000 genomes]
rs6462960	1.00[EUR][1000 genomes]
rs6946176	1.00[EUR][1000 genomes]
rs6953989	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955589	1.00[EUR][1000 genomes]
rs6958792	1.00[EUR][1000 genomes]
rs6964473	1.00[EUR][1000 genomes]
rs6965022	1.00[EUR][1000 genomes]
rs6973262	1.00[EUR][1000 genomes]
rs6976377	1.00[EUR][1000 genomes]
rs73381425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381433	0.94[AFR][1000 genomes]
rs73381435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381438	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381440	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381442	0.95[AFR][1000 genomes]
rs73381453	1.00[EUR][1000 genomes]
rs73392765	1.00[EUR][1000 genomes]
rs7794028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7809754	1.00[EUR][1000 genomes]
rs9655408	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	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr7:39934200-39936000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:39934600-39935400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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