Variant report

Variant	rs6756078
Chromosome Location	chr2:86583240-86583241
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	chr2:86572623..86575012-chr2:86582007..86584418,2	K562	blood:
2	chr2:86574180..86576783-chr2:86581330..86583511,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202537	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10181540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865481	0.88[YRI][hapmap]
rs1105862	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1105863	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1105864	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12620810	1.00[CEU][hapmap]
rs12622715	1.00[CEU][hapmap]
rs13405197	1.00[ASN][1000 genomes]
rs2276624	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs3731811	0.90[EUR][1000 genomes]
rs3821013	1.00[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs41318646	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs58449699	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58740162	0.88[ASN][1000 genomes]
rs58914241	0.90[EUR][1000 genomes]
rs59064682	0.86[EUR][1000 genomes]
rs59714766	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61748134	0.90[EUR][1000 genomes]
rs6547681	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6547683	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6547684	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6707865	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6709505	0.85[EUR][1000 genomes]
rs6730867	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6731264	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6731801	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6736342	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6744590	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6748880	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72928446	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73945294	0.90[EUR][1000 genomes]
rs73949503	0.90[EUR][1000 genomes]
rs73949512	0.90[EUR][1000 genomes]
rs7568093	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs870372	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs870373	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs870374	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs870375	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs949922	0.90[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6756078	C2orf23	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86579800-86583400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:86579800-86584600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:86579800-86588200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:86580000-86584200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:86582800-86587800	Weak transcription	Pancreas	Pancrea
6	chr2:86583200-86585800	Enhancers	Fetal Intestine Small	intestine

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