Variant report

Variant	rs2036451
Chromosome Location	chr12:58482686-58482687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1027800	0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10877069	0.90[ASN][1000 genomes]
rs1395511	0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1567130	0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1995655	0.88[ASN][1000 genomes]
rs2260688	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs265560	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2733451	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7975711	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7976016	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3502230	chr12:58458209-58490226	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3502241	chr12:58458223-58490223	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2830232	chr12:58470456-58498926	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs2036451	XRCC6BP1	cis	Heart Left Ventricle	GTEx
rs2036451	XRCC6BP1	cis	Thyroid	GTEx
rs2036451	XRCC6BP1	cis	Esophagus Muscularis	GTEx
rs2036451	NPFF	cis	cerebellum	SCAN
rs2036451	XRCC6BP1	cis	lymphoblastoid	seeQTL
rs2036451	XRCC6BP1	cis	lung	GTEx
rs2036451	XRCC6BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs2036451	OR6C1	cis	parietal	SCAN
rs2036451	XRCC6BP1	Cis_1M	lymphoblastoid	RTeQTL
rs2036451	XRCC6BP1	cis	Artery Tibial	GTEx
rs2036451	XRCC6BP1	cis	Esophagus Mucosa	GTEx
rs2036451	XRCC6BP1	cis	Adipose Subcutaneous	GTEx
rs2036451	XRCC6BP1	cis	Whole Blood	GTEx
rs2036451	OS9	cis	cerebellum	SCAN
rs2036451	XRCC6BP1	cis	Muscle Skeletal	GTEx
rs2036451	XRCC6BP1	cis	Artery Aorta	GTEx
rs2036451	XRCC6BP1	cis	Nerve Tibial	GTEx
rs2036451	CSAD	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58475600-58482800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:58479000-58484200	Weak transcription	Pancreas	Pancrea
3	chr12:58481200-58486800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:58481800-58482800	Enhancers	Fetal Lung	lung
5	chr12:58481800-58482800	Weak transcription	Left Ventricle	heart
6	chr12:58482000-58485200	Weak transcription	Right Ventricle	heart
7	chr12:58482200-58486800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr12:58482400-58483200	Enhancers	Psoas Muscle	Psoas

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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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