Variant report

Variant	rs389493
Chromosome Location	chr21:15594495-15594496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15591982..15594612-chr21:15596999..15599183,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs108885	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1739487	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2110153	0.92[CHB][hapmap]
rs2236001	0.92[CHB][hapmap]
rs2822520	0.92[CHB][hapmap];0.90[CHD][hapmap]
rs2822521	0.92[CHB][hapmap]
rs2822523	0.92[CHB][hapmap]
rs367249	0.89[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs367620	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs367718	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs369923	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs372649	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375370	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377297	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs378280	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs379724	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384358	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385758	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap]
rs400385	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402462	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs405396	0.88[ASN][1000 genomes]
rs410757	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs411359	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs419398	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs423169	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap]
rs424021	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs424759	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs430245	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs431238	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs434549	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs437162	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs437521	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs452794	0.82[ASN][1000 genomes]
rs718670	0.92[CHB][hapmap];0.90[CHD][hapmap]
rs718671	0.92[CHB][hapmap];0.90[CHD][hapmap]
rs718672	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs718673	0.83[CHB][hapmap];0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv913402	chr21:15545350-15606128	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1056588	chr21:15583231-15615520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1066738	chr21:15587815-15642948	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15589200-15600800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:15589400-15595600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:15589400-15595800	Weak transcription	Ovary	ovary
4	chr21:15589400-15597800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr21:15589600-15596200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr21:15589600-15601200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr21:15589600-15601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr21:15589800-15595800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:15589800-15599000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr21:15589800-15599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:15589800-15600400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr21:15589800-15600600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr21:15589800-15600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr21:15589800-15601200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:15589800-15601200	Weak transcription	Fetal Brain Female	brain
16	chr21:15593000-15594600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr21:15594000-15597600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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