Variant report

Variant	rs341815
Chromosome Location	chr8:49978424-49978425
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17641971	0.80[EUR][1000 genomes]
rs236494	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385127	0.90[EUR][1000 genomes]
rs341804	0.88[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs341817	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs341828	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs341829	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873093	0.83[GIH][hapmap];0.81[TSI][hapmap]
rs6984804	0.81[TSI][hapmap]
rs73579339	0.81[EUR][1000 genomes]
rs73579360	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs818557	0.88[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[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	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs341815	C8orf22	cis	Muscle Skeletal	GTEx
rs341815	SNTG1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49974600-49979600	Enhancers	Adipose Nuclei	Adipose
2	chr8:49975200-49978600	Enhancers	Hela-S3	cervix
3	chr8:49976600-49979400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:49977000-49978800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:49977000-49979000	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:49977200-49978600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:49977200-49978600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:49977200-49979200	Enhancers	K562	blood
9	chr8:49977400-49978600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:49977400-49978800	Enhancers	HUVEC	blood vessel
11	chr8:49977600-49978600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:49978200-49979000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:49978200-49979000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr8:49978200-49979400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:49978400-49978600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:49978400-49978800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr8:49978400-49979600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:49978400-49979600	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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