Variant report

Variant	rs341829
Chromosome Location	chr8:50005758-50005759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10504073	0.80[AMR][1000 genomes]
rs13268440	0.80[AMR][1000 genomes]
rs236494	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2385229	0.80[AMR][1000 genomes]
rs2385230	0.80[AMR][1000 genomes]
rs341804	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs341815	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs341817	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs341828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873099	0.80[AMR][1000 genomes]
rs4873100	0.80[AMR][1000 genomes]
rs818557	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	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
2	esv3401785	chr8:49986448-50018640	Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3383502	chr8:49991448-50020707	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1023325	chr8:49994793-50050571	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs341829	C8orf22	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50002800-50007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:50004200-50006000	Enhancers	K562	blood
3	chr8:50004200-50006200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:50004200-50006400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:50004200-50006600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:50004200-50006800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:50004400-50006400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:50004600-50006000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:50004800-50006000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:50004800-50006200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:50005200-50007600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:50005200-50009200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:50005600-50006000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:50005600-50006000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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