Variant report

Variant	rs72894457
Chromosome Location	chr3:78863801-78863802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12330873	1.00[ASN][1000 genomes]
rs167944	1.00[ASN][1000 genomes]
rs331133	1.00[ASN][1000 genomes]
rs333501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57657065	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61270372	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61490942	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72894427	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894434	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894451	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894453	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894461	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72894463	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894464	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894471	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894474	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894482	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72894501	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896405	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896408	0.85[AMR][1000 genomes];1.00[ASN][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	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv877019	chr3:78808850-78877217	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv432459	chr3:78819310-78874310	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78851400-78880400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:78854200-78864000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:78854200-78865400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:78854200-78872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:78854400-78871200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:78855400-78872600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:78856800-78864000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:78860200-78871600	Weak transcription	HepG2	liver
9	chr3:78860800-78869600	Weak transcription	Fetal Brain Male	brain
10	chr3:78861000-78867600	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:78861000-78872600	Weak transcription	Brain Anterior Caudate	brain
12	chr3:78861600-78867400	Weak transcription	Fetal Stomach	stomach
13	chr3:78861800-78869800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:78862400-78869600	Weak transcription	Fetal Lung	lung
15	chr3:78863000-78864200	Enhancers	Brain Hippocampus Middle	brain
16	chr3:78863200-78864200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:78863400-78864400	Weak transcription	Brain Angular Gyrus	brain
18	chr3:78863800-78864400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:78863800-78865400	Enhancers	Brain Substantia Nigra	brain

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