Variant report

Variant	rs7554703
Chromosome Location	chr1:169370996-169370997
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10458395	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10458396	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10458397	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10489187	1.00[ASN][1000 genomes]
rs10489188	1.00[ASN][1000 genomes]
rs10800441	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10800446	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10919154	0.81[AFR][1000 genomes]
rs10919155	1.00[ASN][1000 genomes]
rs10919163	1.00[ASN][1000 genomes]
rs10919164	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10919167	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1112839	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11799936	1.00[ASN][1000 genomes]
rs11799948	1.00[ASN][1000 genomes]
rs11800843	1.00[ASN][1000 genomes]
rs11808015	1.00[ASN][1000 genomes]
rs12021770	1.00[ASN][1000 genomes]
rs12022776	0.93[AFR][1000 genomes]
rs12023025	0.97[ASN][1000 genomes]
rs12023117	0.97[ASN][1000 genomes]
rs12023892	0.97[ASN][1000 genomes]
rs12024897	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12026287	0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12026728	1.00[ASN][1000 genomes]
rs12028813	1.00[ASN][1000 genomes]
rs12030320	1.00[ASN][1000 genomes]
rs12032201	1.00[ASN][1000 genomes]
rs12033253	0.97[ASN][1000 genomes]
rs12034986	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12049227	1.00[ASN][1000 genomes]
rs12239720	0.84[ASN][1000 genomes]
rs12563090	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12564884	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1400838	0.97[ASN][1000 genomes]
rs16862118	1.00[ASN][1000 genomes]
rs16862172	0.97[ASN][1000 genomes]
rs16862199	0.83[ASN][1000 genomes]
rs1980198	0.95[AFR][1000 genomes]
rs2003652	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2003654	0.95[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2014061	0.98[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2235195	0.97[ASN][1000 genomes]
rs28566091	1.00[ASN][1000 genomes]
rs35269183	1.00[ASN][1000 genomes]
rs3753303	0.97[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3766096	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3818844	0.96[AFR][1000 genomes]
rs56859218	0.97[ASN][1000 genomes]
rs61807018	1.00[ASN][1000 genomes]
rs61808977	0.97[ASN][1000 genomes]
rs61808978	0.97[ASN][1000 genomes]
rs61808980	0.84[ASN][1000 genomes]
rs6427186	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6427188	0.96[AFR][1000 genomes]
rs6427189	0.90[AFR][1000 genomes]
rs6427191	1.00[ASN][1000 genomes]
rs6656923	0.97[ASN][1000 genomes]
rs6660945	0.98[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6669741	0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6677410	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6690801	1.00[ASN][1000 genomes]
rs6696428	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6696810	0.93[AFR][1000 genomes]
rs72702156	0.97[ASN][1000 genomes]
rs72702179	1.00[ASN][1000 genomes]
rs72702188	1.00[ASN][1000 genomes]
rs7516248	0.93[AFR][1000 genomes]
rs7528375	0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7528449	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7534737	0.96[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7535788	1.00[ASN][1000 genomes]
rs7537890	0.90[AFR][1000 genomes]
rs7539415	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs961404	0.90[AFR][1000 genomes]
rs9659035	1.00[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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7554703	NME7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169360600-169372200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:169360800-169395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:169362200-169371200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:169363400-169371200	Weak transcription	Ovary	ovary
5	chr1:169364400-169375600	Weak transcription	Brain Anterior Caudate	brain
6	chr1:169365600-169371000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:169365600-169371200	Weak transcription	Fetal Lung	lung
8	chr1:169365800-169372400	Weak transcription	HSMM	muscle
9	chr1:169368200-169371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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