Variant report

Variant	rs13382212
Chromosome Location	chr2:72263628-72263629
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:3)

rs_ID	r²[population]
rs10204373	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4852280	0.81[ASN][1000 genomes]
rs741161	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874260	chr2:72242013-72268093	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv874261	chr2:72242013-72270790	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv874262	chr2:72242013-72279514	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3584760	chr2:72249991-72271489	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv874263	chr2:72251751-72279514	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13382212	PNO1	cis	parietal	SCAN
rs13382212	TIA1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72259200-72264200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:72260200-72264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:72262400-72264800	Enhancers	Spleen	Spleen
4	chr2:72262400-72265200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:72262600-72264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:72262600-72264800	Enhancers	Esophagus	oesophagus
7	chr2:72262600-72265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:72262600-72265200	Enhancers	HMEC	breast
9	chr2:72262600-72265600	Enhancers	NHEK	skin
10	chr2:72262600-72265800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:72263000-72264200	Weak transcription	NH-A	brain
12	chr2:72263200-72265000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:72263600-72264000	Enhancers	Hela-S3	cervix
14	chr2:72263600-72267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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