Variant report

Variant	rs3766100
Chromosome Location	chr1:169395055-169395056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169390021..169391696-chr1:169393903..169395774,2	K562	blood:
2	chr1:169387105..169389655-chr1:169393151..169396030,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10489190	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494477	0.83[EUR][1000 genomes]
rs10494478	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919147	0.83[EUR][1000 genomes]
rs10919149	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919150	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919153	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919158	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919162	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919165	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919172	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12022617	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12025397	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12025721	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028208	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12037926	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042990	0.83[EUR][1000 genomes]
rs12044982	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401962	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402774	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12567342	0.83[EUR][1000 genomes]
rs1517742	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1517746	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17345426	0.83[EUR][1000 genomes]
rs17345531	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349677	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518147	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17576927	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1949426	1.00[ASN][1000 genomes]
rs2092083	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704035	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72706084	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7414819	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7522565	0.93[ASN][1000 genomes]
rs7546361	0.93[ASN][1000 genomes]
rs7554853	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	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
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3766100	NME7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169360800-169395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:169382000-169395200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:169383600-169395400	Weak transcription	Ovary	ovary
4	chr1:169385000-169395200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:169385600-169395200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:169385600-169395600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:169385600-169395800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:169387000-169395800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:169387800-169395400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:169389000-169395400	Weak transcription	Fetal Brain Female	brain
11	chr1:169391000-169395600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:169391000-169395600	Weak transcription	Fetal Heart	heart
13	chr1:169392000-169395800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:169392600-169396400	Weak transcription	Liver	Liver
15	chr1:169394000-169395200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:169394800-169397200	Active TSS	Brain Germinal Matrix	brain
17	chr1:169394800-169397200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:169395000-169395200	Enhancers	Brain Anterior Caudate	brain

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