Variant report

Variant	rs2830553
Chromosome Location	chr21:28223696-28223697
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10460698	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10470139	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11909037	0.82[GIH][hapmap]
rs11910373	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1444274	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1475583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1475584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2830557	0.91[ASN][1000 genomes]
rs67979457	0.88[ASN][1000 genomes]
rs9305292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9305293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9305294	0.82[GIH][hapmap]
rs9976037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9976082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9977087	0.82[GIH][hapmap]
rs9978507	0.85[ASN][1000 genomes]
rs9978597	0.82[GIH][hapmap]
rs9981017	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9981095	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9981200	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9981427	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28219400-28224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:28219400-28229000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:28222000-28224600	Enhancers	Liver	Liver
4	chr21:28222000-28225800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr21:28222200-28224000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr21:28222200-28225600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr21:28222200-28226000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:28222800-28224600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr21:28223000-28224000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:28223000-28224000	Enhancers	Brain Substantia Nigra	brain
11	chr21:28223000-28225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr21:28223000-28225400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr21:28223200-28224000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:28223200-28224000	Enhancers	Brain Anterior Caudate	brain
15	chr21:28223200-28224000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr21:28223200-28224200	Enhancers	Brain Hippocampus Middle	brain
17	chr21:28223200-28225600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr21:28223400-28223800	Enhancers	Brain Angular Gyrus	brain
19	chr21:28223400-28223800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr21:28223400-28223800	Enhancers	HSMM	muscle
21	chr21:28223400-28224000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:28223400-28224000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:28223400-28224000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr21:28223400-28225200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:28223400-28225400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr21:28223400-28225600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr21:28223600-28223800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr21:28223600-28224000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:28223600-28224000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:28223600-28224400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr21:28223600-28225600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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