Variant report

Variant	rs9788186
Chromosome Location	chr12:39827783-39827784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39799457..39802388-chr12:39827395..39829929,2	K562	blood:
2	chr12:39775530..39777936-chr12:39825264..39827786,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11171683	0.90[ASN][1000 genomes]
rs11171748	0.86[MEX][hapmap]
rs4554929	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4628717	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581208	0.92[CEU][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9788186	PPP2R2D	trans	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39785000-39829200	Weak transcription	K562	blood
2	chr12:39806600-39834200	Weak transcription	Hela-S3	cervix
3	chr12:39808600-39830800	Weak transcription	Fetal Brain Female	brain
4	chr12:39813600-39833400	Weak transcription	Brain Germinal Matrix	brain
5	chr12:39814400-39833800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:39816000-39834000	Weak transcription	Left Ventricle	heart
7	chr12:39821400-39835600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:39822000-39829800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:39822200-39832200	Weak transcription	A549	lung
10	chr12:39822200-39833000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:39823600-39829400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:39824000-39832400	Weak transcription	HepG2	liver
13	chr12:39825200-39827800	Weak transcription	Right Ventricle	heart
14	chr12:39825200-39835600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:39825400-39834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:39825800-39829000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:39826000-39828800	Weak transcription	Fetal Heart	heart
18	chr12:39826000-39831400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:39826000-39832200	Weak transcription	Liver	Liver
20	chr12:39826200-39831400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:39826800-39831200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:39827200-39828800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:39827600-39828000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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