Variant report

Variant	rs61826843
Chromosome Location	chr1:174038968-174038969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173832054..173834706-chr1:174038915..174041267,2	MCF-7	breast:
2	chr1:173990759..173992648-chr1:174037582..174039680,2	MCF-7	breast:
3	chr1:174037460..174040241-chr1:174043210..174045620,2	K562	blood:

Variant related genes	Relation type
ENSG00000234741	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000135870	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10798302	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10912719	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10912722	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12063313	0.82[EUR][1000 genomes]
rs12066153	0.80[ASN][1000 genomes]
rs12076799	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12092774	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12096785	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12097809	0.81[ASN][1000 genomes]
rs12563395	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568409	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13375086	0.80[ASN][1000 genomes]
rs13376011	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16846683	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1884994	0.80[ASN][1000 genomes]
rs4592301	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56247945	0.80[ASN][1000 genomes]
rs61547493	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826844	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827891	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61827894	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425273	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6425275	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6661868	0.94[ASN][1000 genomes]
rs6665484	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6673632	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6677660	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6686083	0.81[ASN][1000 genomes]
rs6689285	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6695327	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6696163	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs714624	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7413166	0.80[ASN][1000 genomes]
rs7511780	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538312	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7547280	0.80[ASN][1000 genomes]
rs7554915	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61826843	SERPINC1	cis	Esophagus Mucosa	GTEx
rs61826843	SERPINC1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174037600-174044200	Weak transcription	K562	blood

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