Variant report

Variant	rs72843327
Chromosome Location	chr2:128289742-128289743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128160704..128163644-chr2:128286914..128289869,2	K562	blood:
2	chr2:128287640..128290325-chr2:128292446..128294500,2	MCF-7	breast:
3	chr2:128282966..128285789-chr2:128286423..128291685,6	MCF-7	breast:
4	chr2:128288604..128291477-chr2:128457748..128460860,3	MCF-7	breast:
5	chr2:128289324..128291170-chr2:128329795..128331725,2	MCF-7	breast:
6	chr2:128288386..128290312-chr2:128297591..128299207,2	MCF-7	breast:
7	chr2:128288901..128291485-chr2:128567885..128570400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169994	Chromatin interaction
ENSG00000173349	Chromatin interaction
ENSG00000136709	Chromatin interaction
ENSG00000163166	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10928769	0.81[ASN][1000 genomes]
rs11678062	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11681225	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11682864	0.81[ASN][1000 genomes]
rs11685630	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11688201	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11693449	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12233101	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12616100	0.99[ASN][1000 genomes]
rs12616200	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12619773	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12620037	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17015334	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17015401	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1864553	0.98[ASN][1000 genomes]
rs2082182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2099209	0.99[ASN][1000 genomes]
rs2116026	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2163346	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2288655	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35208523	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3732205	0.81[ASN][1000 genomes]
rs55688542	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56056404	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56100618	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56261855	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56285909	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56327685	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62156576	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62156599	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62156603	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6758364	0.99[ASN][1000 genomes]
rs777556	0.82[ASN][1000 genomes]
rs873099	0.99[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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv2912	chr2:128281152-128307830	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs72843327	AC068282.3	cis	Nerve Tibial	GTEx
rs72843327	AC068282.3	cis	Artery Tibial	GTEx
rs72843327	AC068282.3	cis	Adipose Subcutaneous	GTEx
rs72843327	AC068282.3	cis	lung	GTEx
rs72843327	AC068282.3	cis	Muscle Skeletal	GTEx
rs72843327	AC068282.3	cis	Esophagus Mucosa	GTEx
rs72843327	AC068282.3	cis	Skin Sun Exposed Lower leg	GTEx
rs72843327	AC068282.3	cis	Whole Blood	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128284600-128321200	Weak transcription	Spleen	Spleen
2	chr2:128285200-128292200	Enhancers	Placenta	Placenta
3	chr2:128285400-128292000	Weak transcription	Colonic Mucosa	Colon
4	chr2:128285400-128306600	Weak transcription	Right Atrium	heart
5	chr2:128285600-128290000	Enhancers	Fetal Intestine Large	intestine
6	chr2:128286000-128292200	Weak transcription	Small Intestine	intestine
7	chr2:128287600-128290000	Enhancers	Fetal Intestine Small	intestine
8	chr2:128289000-128294400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:128289200-128289800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:128289200-128293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:128289400-128291600	Weak transcription	Rectal Mucosa Donor 31	rectum

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