Variant report

Variant	rs2715610
Chromosome Location	chr3:133607321-133607322
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133605609..133607437-chr3:133612463..133615292,2	MCF-7	breast:
2	chr3:133605158..133607453-chr3:133614736..133616247,2	K562	blood:
3	chr3:133605966..133608367-chr3:133609198..133611399,2	K562	blood:
4	chr3:133605740..133607689-chr3:133609098..133611830,3	K562	blood:

Variant related genes	Relation type
ENSG00000154917	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1608904	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1949881	0.88[JPT][hapmap]
rs2692676	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2692677	0.88[JPT][hapmap]
rs2692678	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2692681	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2692683	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2715618	0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2715629	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9852801	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2715610	PPP2R3A	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133596400-133613600	Weak transcription	Gastric	stomach
2	chr3:133598800-133610400	Weak transcription	Fetal Brain Male	brain
3	chr3:133599600-133610600	Weak transcription	Pancreas	Pancrea
4	chr3:133601000-133608200	Enhancers	Brain Anterior Caudate	brain
5	chr3:133601200-133612800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:133601400-133612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:133603200-133610800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:133604200-133608000	Enhancers	Brain Angular Gyrus	brain
9	chr3:133604400-133608200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:133605000-133608200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr3:133605000-133608200	Enhancers	Placenta	Placenta
12	chr3:133606000-133607400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:133606000-133607800	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:133606000-133608000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:133606200-133607400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:133606200-133607600	Enhancers	Brain Germinal Matrix	brain
17	chr3:133606200-133607800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:133606200-133608000	Enhancers	Brain Hippocampus Middle	brain
19	chr3:133606200-133608200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:133606400-133607800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:133606400-133608000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:133606400-133608000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:133606400-133608000	Enhancers	Brain Substantia Nigra	brain
24	chr3:133606400-133608000	Enhancers	Right Atrium	heart
25	chr3:133606600-133607400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:133606600-133608000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:133606600-133608000	Enhancers	Spleen	Spleen
28	chr3:133606800-133607400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:133606800-133608000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:133607000-133607400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr3:133607000-133610000	Weak transcription	Fetal Brain Female	brain
32	chr3:133607000-133612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:133607200-133607800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:133607200-133609800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:133607200-133609800	Weak transcription	Right Ventricle	heart
36	chr3:133607200-133610200	Weak transcription	Fetal Heart	heart
37	chr3:133607200-133610200	Weak transcription	K562	blood
38	chr3:133607200-133610600	Weak transcription	Left Ventricle	heart
39	chr3:133607200-133610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:133607200-133610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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