Variant report

Variant	rs1335930
Chromosome Location	chr1:221094253-221094254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11118625	1.00[ASN][1000 genomes]
rs11118626	1.00[ASN][1000 genomes]
rs1537806	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2484698	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2484699	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2807870	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1335930	DUSP10	cis	cerebellum	SCAN
rs1335930	C1orf115	cis	lymphoblastoid	seeQTL
rs1335930	MOSC2	cis	lymphoblastoid	seeQTL
rs1335930	TGFB2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221089000-221096200	Weak transcription	Spleen	Spleen
2	chr1:221089200-221094800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:221089200-221095400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:221092800-221095200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:221093400-221095200	Enhancers	Liver	Liver
6	chr1:221093600-221094400	Enhancers	Psoas Muscle	Psoas
7	chr1:221093600-221095400	Enhancers	HepG2	liver
8	chr1:221093800-221097000	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:221094200-221097200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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