Variant report

Variant	rs10935284
Chromosome Location	chr3:138206471-138206472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1082037	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1088055	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13101081	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1379257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs1479930	1.00[ASN][1000 genomes]
rs1600511	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1625751	0.86[EUR][1000 genomes]
rs1630766	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1673593	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1673607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs1673624	0.80[ASN][1000 genomes]
rs1679167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1679168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1679175	0.90[ASN][1000 genomes]
rs1720833	0.84[EUR][1000 genomes]
rs1720836	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2086351	0.85[EUR][1000 genomes]
rs2347469	0.94[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607795	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2881793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs4432674	0.86[ASN][1000 genomes]
rs4678264	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4678265	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4678420	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs559313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs586946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs587331	0.81[AFR][1000 genomes]
rs60513493	0.86[ASN][1000 genomes]
rs611134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs618792	0.81[AFR][1000 genomes]
rs629884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs6798058	0.80[ASN][1000 genomes]
rs680070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7625326	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7627685	0.85[YRI][hapmap];0.90[AFR][1000 genomes]
rs7634745	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7643973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7653815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs773444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[ASN][1000 genomes]
rs773445	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs774003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs774004	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs774005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774006	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774007	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774008	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774011	0.86[EUR][1000 genomes]
rs774012	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs808925	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs811792	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs811793	1.00[ASN][1000 genomes]
rs9811052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs9817419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9827256	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9848718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9848938	0.93[CEU][hapmap]
rs9853998	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9855306	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs9878436	1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs9879213	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[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
rs10935284	CEP70	cis	Muscle Skeletal	GTEx

Chromatin state (count:8 , 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	chr3:138205000-138207000	ZNF genes & repeats	Brain Anterior Caudate	brain
8	chr3:138205000-138211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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