Variant report

Variant	rs9621545
Chromosome Location	chr22:33121988-33121989
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12484015	0.84[JPT][hapmap]
rs4821089	0.84[JPT][hapmap]
rs5754222	0.82[JPT][hapmap]
rs5754226	0.82[JPT][hapmap]
rs725337	0.84[JPT][hapmap]
rs725338	0.84[JPT][hapmap];0.84[MEX][hapmap]
rs7291090	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs8136470	0.88[JPT][hapmap]

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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv588897	chr22:33116314-33139230	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9621545	EMID1	cis	cerebellum	SCAN
rs9621545	SLC5A1	cis	parietal	SCAN
rs9621545	RNF185	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33115800-33122200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr22:33117400-33124200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:33120000-33122000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:33120000-33124200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:33120000-33129600	Weak transcription	Right Atrium	heart
6	chr22:33120800-33127400	Weak transcription	Thymus	Thymus
7	chr22:33121000-33124200	Weak transcription	Dnd41	blood
8	chr22:33121200-33122000	Enhancers	HepG2	liver
9	chr22:33121400-33122000	Enhancers	Osteobl	bone
10	chr22:33121400-33124200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:33121400-33124200	Weak transcription	Fetal Thymus	thymus
12	chr22:33121600-33127800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:33121800-33127200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:33121800-33141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

Quick Search:

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

what's new

Quick links