Variant report

Variant	rs6547683
Chromosome Location	chr2:86625502-86625503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86621403..86626884-chr2:86666803..86669988,9	MCF-7	breast:
2	chr2:86616684..86621383-chr2:86622282..86625754,5	K562	blood:
3	chr2:86625137..86627583-chr2:86669030..86671469,2	K562	blood:
4	chr2:86421249..86424265-chr2:86622916..86627060,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132305	Chromatin interaction
ENSG00000273080	Chromatin interaction
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10181540	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1105862	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105863	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105865	0.92[AFR][1000 genomes]
rs13405197	0.88[ASN][1000 genomes]
rs2276624	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3731811	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3821013	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41318646	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58449699	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58740162	1.00[ASN][1000 genomes]
rs58914241	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59064682	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59714766	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61748134	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547681	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547684	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547685	0.92[AFR][1000 genomes]
rs6707865	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709505	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6730867	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731264	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731801	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736342	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744590	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748880	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756078	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72928446	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73945294	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73949503	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73949512	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7568093	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7574555	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs870372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870375	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949922	0.95[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	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers 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 miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86621600-86631000	Weak transcription	Gastric	stomach
2	chr2:86623600-86626000	Weak transcription	HSMM	muscle
3	chr2:86623600-86627000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:86623800-86626200	Weak transcription	Aorta	Aorta
5	chr2:86623800-86626400	Weak transcription	Psoas Muscle	Psoas
6	chr2:86624800-86625600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:86625000-86628000	Enhancers	HSMMtube	muscle
8	chr2:86625400-86626200	Enhancers	K562	blood

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