Variant report

Variant	rs2830430
Chromosome Location	chr21:28088340-28088341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2830381	0.83[ASN][1000 genomes]
rs2830384	0.82[ASN][1000 genomes]
rs2830398	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830410	0.86[EUR][1000 genomes]
rs2830416	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830417	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830421	0.87[EUR][1000 genomes]
rs2830422	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830434	0.91[ASN][1000 genomes]
rs2830439	0.87[EUR][1000 genomes]
rs2952414	0.97[GIH][hapmap]
rs3017521	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3017522	0.91[ASN][1000 genomes]
rs9974534	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9984497	0.83[ASN][1000 genomes]
rs9984500	0.83[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28082800-28088400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:28083000-28088400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr21:28083400-28088400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:28087200-28088600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:28087200-28088800	Enhancers	Placenta	Placenta
6	chr21:28087600-28088400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:28088000-28088600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr21:28088000-28088800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:28088000-28088800	Enhancers	Brain Cingulate Gyrus	brain
10	chr21:28088000-28090000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:28088200-28088400	Enhancers	HMEC	breast
12	chr21:28088200-28088400	Enhancers	NHEK	skin
13	chr21:28088200-28088600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:28088200-28088800	Enhancers	Brain Anterior Caudate	brain
15	chr21:28088200-28088800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr21:28088200-28088800	Enhancers	Fetal Kidney	kidney
17	chr21:28088200-28089000	Enhancers	Brain Hippocampus Middle	brain
18	chr21:28088200-28090000	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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