Variant report

Variant	rs7631070
Chromosome Location	chr3:142956424-142956425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142955679..142958275-chr3:142964132..142966713,2	K562	blood:
2	chr3:142954351..142956458-chr3:142960764..142964653,3	K562	blood:
3	chr3:142948047..142951312-chr3:142952653..142957193,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10470450	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13317029	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4553947	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4602353	0.84[EUR][1000 genomes]
rs4839604	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60818974	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62279677	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6775385	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6785254	0.81[EUR][1000 genomes]
rs73006209	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7627757	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs894180	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs920570	0.80[EUR][1000 genomes]
rs9829667	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9842703	0.94[CEU][hapmap]
rs9849247	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs985247	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9862637	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9879103	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs990739	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv818171	chr3:142894411-142960273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1009573	chr3:142896048-142959777	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2757014	chr3:142905661-142964373	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7631070	BIN1	cis	Brain Pons	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142953200-142957600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:142953800-142957600	Weak transcription	HSMM	muscle
3	chr3:142954000-142958400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:142954800-142962000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:142955000-142956600	Enhancers	Primary T cells from cord blood	blood
6	chr3:142955000-142957000	Enhancers	Dnd41	blood
7	chr3:142955200-142956600	Enhancers	Fetal Kidney	kidney
8	chr3:142955200-142956600	Enhancers	Fetal Lung	lung
9	chr3:142955200-142956600	Enhancers	NHDF-Ad	bronchial
10	chr3:142955200-142957000	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:142955200-142957400	Enhancers	Fetal Thymus	thymus
12	chr3:142955200-142972000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:142955400-142956800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:142955600-142957600	Weak transcription	Placenta	Placenta
15	chr3:142955800-142957200	Enhancers	GM12878-XiMat	blood
16	chr3:142956000-142957000	Enhancers	Thymus	Thymus
17	chr3:142956000-142957000	Weak transcription	HUVEC	blood vessel
18	chr3:142956000-142957200	Enhancers	HSMMtube	muscle
19	chr3:142956200-142958400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:142956400-142956600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:142956400-142957800	Weak transcription	NH-A	brain
22	chr3:142956400-142958200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:142956400-142959800	Weak transcription	Fetal Stomach	stomach
24	chr3:142956400-142964600	Weak transcription	K562	blood

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