Variant report

Variant	rs219672
Chromosome Location	chr21:27849346-27849347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11088000	0.90[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11088001	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs170177	0.92[ASN][1000 genomes]
rs219625	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs219671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs222158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs222159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2830250	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2830251	0.86[ASN][1000 genomes]
rs2830253	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2830254	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs701719	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv459222	chr21:27635915-27850971	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv587334	chr21:27635915-27850971	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv587335	chr21:27715263-27955385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv913660	chr21:27815652-27869676	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv587336	chr21:27849346-27865978	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27838400-27850400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr21:27839200-27850800	Weak transcription	HUVEC	blood vessel
3	chr21:27839400-27856000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:27840000-27851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:27842400-27853000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr21:27842400-27862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:27843400-27878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:27843600-27854800	Weak transcription	Adipose Nuclei	Adipose
9	chr21:27843800-27850000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr21:27843800-27853600	Weak transcription	Fetal Stomach	stomach
11	chr21:27843800-27860200	Weak transcription	Left Ventricle	heart
12	chr21:27845600-27852200	Strong transcription	Fetal Lung	lung
13	chr21:27845600-27853000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:27846600-27852800	Strong transcription	Primary hematopoietic stem cells	blood
15	chr21:27847000-27852800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:27847000-27855000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:27847000-27862800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:27847600-27852400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr21:27847600-27852800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr21:27848000-27851000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr21:27848000-27852800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:27848000-27852800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:27848200-27849400	Strong transcription	Fetal Kidney	kidney

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