Variant report

Variant	rs1416527
Chromosome Location	chr1:217236801-217236802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2225967	0.86[CHB][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs700042	0.86[CHB][hapmap];0.82[CHD][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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1416527	ATP6AP1L	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217213400-217240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:217221800-217251400	Weak transcription	Left Ventricle	heart
3	chr1:217223200-217250000	Weak transcription	Psoas Muscle	Psoas
4	chr1:217234400-217237200	Enhancers	Fetal Heart	heart
5	chr1:217234600-217237200	Enhancers	Fetal Muscle Leg	muscle
6	chr1:217235400-217238000	Enhancers	Fetal Intestine Large	intestine
7	chr1:217235600-217237200	Enhancers	Fetal Intestine Small	intestine
8	chr1:217236000-217237200	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:217236000-217249400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:217236600-217237000	Enhancers	Pancreas	Pancrea
11	chr1:217236800-217237000	Enhancers	Right Atrium	heart
12	chr1:217236800-217237200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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