Variant report

Variant	rs2830424
Chromosome Location	chr21:28082699-28082700
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs226288	0.80[ASN][1000 genomes]
rs2409187	0.87[ASN][1000 genomes]
rs2830382	0.83[ASN][1000 genomes]
rs2830383	0.83[ASN][1000 genomes]
rs2830420	0.90[ASN][1000 genomes]
rs2830423	0.99[ASN][1000 genomes]
rs2830427	0.87[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2830436	0.92[EUR][1000 genomes]
rs2830437	0.92[EUR][1000 genomes]
rs2989323	0.90[ASN][1000 genomes]
rs3017422	0.91[ASN][1000 genomes]
rs3017519	0.88[ASN][1000 genomes]
rs3017538	0.91[ASN][1000 genomes]
rs965228	0.82[ASN][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	nsv459223	chr21:28070037-28092531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv587337	chr21:28070037-28092531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2830424	ANKRD33	trans	parietal	SCAN
rs2830424	APP	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28080000-28083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr21:28080000-28083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:28081800-28083000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr21:28082000-28082800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr21:28082000-28082800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:28082000-28083000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr21:28082200-28082800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr21:28082200-28083000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr21:28082200-28083200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:28082200-28083400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr21:28082400-28083400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr21:28082600-28082800	Enhancers	Primary hematopoietic stem cells	blood
13	chr21:28082600-28083000	Enhancers	Dnd41	blood

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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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