Variant report

Variant	rs40157
Chromosome Location	chr3:134648118-134648119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs185257	0.87[EUR][1000 genomes]
rs187587	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36160	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36161	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36165	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36167	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36168	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36169	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36171	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36172	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36174	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs36176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36178	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36179	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36180	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36181	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36182	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36183	0.98[EUR][1000 genomes]
rs36184	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36185	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36186	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36187	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs39701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39703	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39704	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40437	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs42883	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4955528	0.85[EUR][1000 genomes]
rs504033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs680054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs975149	0.88[EUR][1000 genomes]
rs9819131	0.89[EUR][1000 genomes]
rs9856814	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009634	chr3:134543259-134820208	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536720	chr3:134543259-134820208	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv10631	chr3:134647088-134648608	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134639000-134649400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:134639400-134653800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:134641600-134650400	Weak transcription	Fetal Brain Male	brain
4	chr3:134641800-134649800	Weak transcription	Brain Anterior Caudate	brain
5	chr3:134642400-134653800	Weak transcription	Brain Germinal Matrix	brain
6	chr3:134644200-134649600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:134644200-134654800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:134644600-134656400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:134644800-134649000	Enhancers	Fetal Muscle Leg	muscle
10	chr3:134645200-134649200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:134646400-134648600	Weak transcription	Fetal Stomach	stomach
12	chr3:134646600-134649600	Enhancers	Fetal Thymus	thymus
13	chr3:134647200-134648600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:134647200-134648800	Enhancers	GM12878-XiMat	blood
15	chr3:134647400-134648600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:134647800-134648200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:134647800-134650400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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