Variant report

Variant	rs59714766
Chromosome Location	chr2:86619890-86619891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86616684..86621383-chr2:86622282..86625754,5	K562	blood:
2	chr2:86619507..86623794-chr2:86667300..86670065,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10181540	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1105862	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105863	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105864	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405197	0.88[ASN][1000 genomes]
rs2276624	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3731811	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3821013	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41318646	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58449699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58740162	1.00[ASN][1000 genomes]
rs58914241	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59064682	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61748134	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6547681	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547683	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547684	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707865	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709505	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6730867	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731801	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744590	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756078	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72928446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73945294	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73949503	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73949512	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7568093	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7574555	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs870372	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870373	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870374	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870375	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949922	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	esv18769	chr2:86619882-86620685	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86615000-86620200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:86615800-86620200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:86619600-86620800	Enhancers	Left Ventricle	heart
4	chr2:86619600-86621200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:86619600-86621600	Enhancers	Fetal Intestine Large	intestine
6	chr2:86619600-86622000	Enhancers	Fetal Intestine Small	intestine
7	chr2:86619800-86620400	Enhancers	Fetal Heart	heart
8	chr2:86619800-86621800	Enhancers	HSMMtube	muscle
9	chr2:86619800-86622800	Enhancers	Psoas Muscle	Psoas

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