Variant report

Variant	rs12768993
Chromosome Location	chr10:95718037-95718038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11815169	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12570608	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12571030	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571819	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12573551	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35789439	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv948143	chr10:95717763-95721419	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12768993	PDLIM1	cis	parietal	SCAN
rs12768993	PLCE1	cis	parietal	SCAN
rs12768993	ANKRD2	cis	parietal	SCAN
rs12768993	PDE6C	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95703200-95721800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr10:95707400-95722800	Weak transcription	Fetal Stomach	stomach
3	chr10:95707800-95725600	Weak transcription	Ovary	ovary
4	chr10:95708400-95720800	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:95711800-95718600	Weak transcription	Fetal Intestine Small	intestine
6	chr10:95712200-95725600	Weak transcription	Spleen	Spleen
7	chr10:95715000-95718400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:95715000-95723000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:95715400-95719200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:95717400-95718600	Weak transcription	Psoas Muscle	Psoas
11	chr10:95718000-95718600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr10:95718000-95719600	Enhancers	Skeletal Muscle Female	skeletal muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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