Variant report

Variant	rs2086351
Chromosome Location	chr3:138205335-138205336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1082034	0.92[ASN][1000 genomes]
rs10935282	0.80[ASN][1000 genomes]
rs10935284	0.85[EUR][1000 genomes]
rs10935287	0.87[ASN][1000 genomes]
rs11709290	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11717771	0.88[ASN][1000 genomes]
rs12487652	0.86[ASN][1000 genomes]
rs12487694	0.92[ASN][1000 genomes]
rs12490633	0.86[ASN][1000 genomes]
rs12497070	0.86[ASN][1000 genomes]
rs12636910	0.87[ASN][1000 genomes]
rs13098789	0.92[ASN][1000 genomes]
rs1625751	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1630766	0.83[EUR][1000 genomes]
rs1672927	0.91[ASN][1000 genomes]
rs1672932	0.90[ASN][1000 genomes]
rs1672963	0.92[ASN][1000 genomes]
rs1673594	0.90[ASN][1000 genomes]
rs1673608	0.89[ASN][1000 genomes]
rs1673622	0.86[ASN][1000 genomes]
rs1679165	0.88[ASN][1000 genomes]
rs1679169	0.88[ASN][1000 genomes]
rs1720833	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280596	0.80[ASN][1000 genomes]
rs2347469	0.81[AMR][1000 genomes]
rs2607790	0.92[ASN][1000 genomes]
rs28719641	0.91[ASN][1000 genomes]
rs34416776	0.80[ASN][1000 genomes]
rs34607531	0.80[ASN][1000 genomes]
rs34878008	0.80[ASN][1000 genomes]
rs35471402	0.96[ASN][1000 genomes]
rs35500947	0.89[ASN][1000 genomes]
rs35932955	0.84[ASN][1000 genomes]
rs3813264	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3884240	0.96[ASN][1000 genomes]
rs4678265	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4678266	0.99[ASN][1000 genomes]
rs4894389	0.92[ASN][1000 genomes]
rs497334	0.90[ASN][1000 genomes]
rs503922	0.85[ASN][1000 genomes]
rs529615	0.85[ASN][1000 genomes]
rs537210	0.91[ASN][1000 genomes]
rs542010	0.92[ASN][1000 genomes]
rs56394118	0.88[ASN][1000 genomes]
rs564800	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs582386	0.92[ASN][1000 genomes]
rs60371967	0.80[ASN][1000 genomes]
rs609797	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs612471	0.91[ASN][1000 genomes]
rs620035	0.92[ASN][1000 genomes]
rs6439809	0.96[ASN][1000 genomes]
rs6439810	0.93[ASN][1000 genomes]
rs656107	0.84[ASN][1000 genomes]
rs6762114	0.92[ASN][1000 genomes]
rs6763380	0.85[ASN][1000 genomes]
rs6771237	0.93[ASN][1000 genomes]
rs73229526	0.93[ASN][1000 genomes]
rs7626226	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7645920	0.96[ASN][1000 genomes]
rs773443	0.86[ASN][1000 genomes]
rs773450	0.87[ASN][1000 genomes]
rs774011	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774012	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814022	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9049	0.80[ASN][1000 genomes]
rs936316	0.89[ASN][1000 genomes]
rs9822037	0.96[ASN][1000 genomes]
rs9823182	0.93[ASN][1000 genomes]
rs9848938	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9855306	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9879213	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv522517	chr3:138174523-138297982	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2086351	CEP70	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138188000-138210800	Weak transcription	Lung	lung
2	chr3:138188000-138211600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:138190000-138210800	Weak transcription	Psoas Muscle	Psoas
4	chr3:138194000-138260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:138199400-138211600	Weak transcription	Fetal Heart	heart
6	chr3:138204800-138211000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:138205000-138205400	ZNF genes & repeats	Fetal Muscle Leg	muscle
8	chr3:138205000-138207000	ZNF genes & repeats	Brain Anterior Caudate	brain
9	chr3:138205000-138211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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