Variant report

Variant	rs10912719
Chromosome Location	chr1:174003373-174003374
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173999844..174002563-chr1:174002764..174006477,3	MCF-7	breast:
2	chr1:173989890..173992328-chr1:174002511..174005010,2	MCF-7	breast:
3	chr1:173990495..173993013-chr1:174002727..174004385,2	K562	blood:
4	chr1:173988271..173993423-chr1:173996333..174006451,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224977	Chromatin interaction
ENSG00000135870	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10798302	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912722	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12063313	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12066153	0.93[ASN][1000 genomes]
rs12076799	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12092774	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12096785	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12097809	0.93[ASN][1000 genomes]
rs12563395	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12568409	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13375086	0.93[ASN][1000 genomes]
rs13376011	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16846683	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1884994	0.93[ASN][1000 genomes]
rs1951627	0.82[ASN][1000 genomes]
rs4592301	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56247945	0.93[ASN][1000 genomes]
rs61547493	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61826843	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61826844	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61827891	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61827894	0.81[EUR][1000 genomes]
rs6425273	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425275	0.82[EUR][1000 genomes]
rs6661868	0.81[ASN][1000 genomes]
rs6665484	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673632	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6677660	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6678487	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6686083	0.94[ASN][1000 genomes]
rs6689285	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6695327	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6696163	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs714624	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7413166	0.93[ASN][1000 genomes]
rs7511780	0.86[ASN][1000 genomes]
rs7514069	0.86[ASN][1000 genomes]
rs7538312	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7547280	0.93[ASN][1000 genomes]
rs7554915	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10912719	SERPINC1	cis	Esophagus Mucosa	GTEx
rs10912719	SERPINC1	cis	lung	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174000000-174008000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:174000200-174009600	Weak transcription	NHLF	lung
3	chr1:174000800-174010600	Weak transcription	HepG2	liver
4	chr1:174002800-174003400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:174002800-174003400	Enhancers	Small Intestine	intestine

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