Variant report

Variant	rs11705811
Chromosome Location	chr3:160643787-160643788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12630250	0.92[JPT][hapmap]
rs13086250	0.85[GIH][hapmap]
rs1374792	0.92[JPT][hapmap];0.90[YRI][hapmap];0.82[ASN][1000 genomes]
rs16831830	0.83[JPT][hapmap]
rs6797798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809177	0.82[GIH][hapmap]
rs716779	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11705811	PPM1L	cis	cerebellum	SCAN
rs11705811	NMD3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160635400-160644000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:160635400-160649200	Weak transcription	Fetal Brain Female	brain
3	chr3:160636000-160644000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:160638200-160647200	Weak transcription	Right Ventricle	heart
5	chr3:160638400-160643800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:160638400-160643800	Weak transcription	Right Atrium	heart
7	chr3:160639000-160644400	Weak transcription	Fetal Brain Male	brain
8	chr3:160642400-160644000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:160642400-160647200	Weak transcription	Adipose Nuclei	Adipose
10	chr3:160643600-160644000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:160643600-160644600	Enhancers	Psoas Muscle	Psoas
12	chr3:160643600-160645000	Enhancers	Left Ventricle	heart

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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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