Variant report

Variant	rs547026
Chromosome Location	chr6:36398616-36398617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36388047..36404187-chr6:36407090..36418492,47	K562	blood:
2	chr6:36393812..36400727-chr6:36401208..36405433,7	K562	blood:
3	chr6:36390037..36391654-chr6:36397187..36400029,2	K562	blood:
4	chr6:36395657..36401114-chr6:36407932..36413764,7	MCF-7	breast:
5	chr6:36397591..36399508-chr6:36561399..36563224,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179165	Chromatin interaction
ENSG00000112078	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1003250	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10440841	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947609	0.86[ASN][1000 genomes]
rs12209346	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12214285	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12215889	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1570368	0.90[ASN][1000 genomes]
rs1742757	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1744654	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3752478	0.84[ASN][1000 genomes]
rs3798471	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4140593	0.88[ASN][1000 genomes]
rs4711450	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711452	0.88[ASN][1000 genomes]
rs4711453	0.90[ASN][1000 genomes]
rs515129	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs515186	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs517890	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs522179	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs544267	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs546272	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs546353	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547966	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs566742	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57389119	0.90[ASN][1000 genomes]
rs584196	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs584418	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59440875	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs595954	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs597153	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs600192	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs605684	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs609067	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs614028	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs619011	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs621796	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs628213	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs628314	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629297	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629560	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs629721	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs632943	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6457918	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659726	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664370	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6923993	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73411054	0.90[ASN][1000 genomes]
rs7744363	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs853873	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs853881	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs853882	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs860513	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs863815	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357214	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470274	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9470278	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9470285	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9470309	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs547026	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36392000-36398800	Weak transcription	Osteobl	bone
2	chr6:36392000-36399200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:36392000-36400000	Weak transcription	Fetal Heart	heart
4	chr6:36392000-36404200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:36393800-36399600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:36394200-36399600	Weak transcription	NHEK	skin
7	chr6:36394200-36399800	Weak transcription	HMEC	breast
8	chr6:36396000-36399400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:36396000-36399400	Weak transcription	HSMM	muscle
10	chr6:36396000-36399600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:36396000-36399800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:36396000-36400000	Weak transcription	A549	lung
13	chr6:36397200-36399000	Weak transcription	Hela-S3	cervix
14	chr6:36397800-36399200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:36397800-36400400	Enhancers	Placenta	Placenta
16	chr6:36398000-36399600	Enhancers	HepG2	liver
17	chr6:36398200-36399000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:36398200-36400200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:36398400-36400600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:36398600-36399800	Weak transcription	HSMMtube	muscle
21	chr6:36398600-36400400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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