Variant report

Variant	rs1630766
Chromosome Location	chr3:138203818-138203819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10935284	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1479930	0.84[AFR][1000 genomes]
rs1625751	0.82[EUR][1000 genomes]
rs1679168	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1720833	0.81[EUR][1000 genomes]
rs2086351	0.83[EUR][1000 genomes]
rs2347469	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4678265	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4678420	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs774004	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs774005	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs774006	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs774007	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs774008	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs774011	0.82[EUR][1000 genomes]
rs774012	0.81[EUR][1000 genomes]
rs808925	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs811792	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9879213	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][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
rs1630766	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	chr3:138196200-138205000	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:138197200-138205000	Weak transcription	Brain Anterior Caudate	brain
7	chr3:138199400-138211600	Weak transcription	Fetal Heart	heart
8	chr3:138203200-138204800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:138203800-138204200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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