Variant report

Variant	rs966367
Chromosome Location	chr2:12148220-12148221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10199352	0.99[ASN][1000 genomes]
rs11897150	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12692450	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[ASN][1000 genomes]
rs12692451	0.99[ASN][1000 genomes]
rs1371613	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6727216	0.97[ASN][1000 genomes]
rs9646725	0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs966367	GREB1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12137200-12148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:12145000-12149800	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:12146400-12151000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:12146600-12148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:12146600-12148800	Enhancers	GM12878-XiMat	blood
6	chr2:12146600-12148800	Weak transcription	HSMMtube	muscle
7	chr2:12146600-12153600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:12146800-12149000	Weak transcription	Primary B cells from cord blood	blood
9	chr2:12146800-12150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:12147000-12148600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:12147200-12148600	Weak transcription	NHEK	skin
12	chr2:12147400-12148400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:12147400-12148600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:12147400-12148600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:12147400-12148600	Weak transcription	HMEC	breast
16	chr2:12147400-12148600	Weak transcription	Osteobl	bone
17	chr2:12147400-12148800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:12147400-12150000	Weak transcription	Fetal Lung	lung
19	chr2:12147400-12150800	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:12147400-12154000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:12147600-12148600	Weak transcription	NH-A	brain
22	chr2:12147600-12148800	Weak transcription	HUVEC	blood vessel
23	chr2:12147600-12150800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:12147800-12148800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:12147800-12148800	Weak transcription	K562	blood
26	chr2:12147800-12153800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:12148000-12149400	Weak transcription	Liver	Liver
28	chr2:12148000-12150200	Enhancers	NHLF	lung
29	chr2:12148200-12150400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:12148200-12152000	Enhancers	HSMM	muscle

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