Variant report

Variant	rs367249
Chromosome Location	chr21:15597894-15597895
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: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs108885	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1739487	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822520	0.86[CHD][hapmap]
rs367620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs369923	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs372649	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs375370	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs377297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378280	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs379724	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs384358	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs385758	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs389338	0.88[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs389493	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]
rs400385	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs402462	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs405396	0.86[ASN][1000 genomes]
rs410757	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs411359	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs419398	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs423169	0.94[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs424021	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs424759	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs430245	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs431238	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs434549	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs437162	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs437521	0.89[CEU][hapmap];0.85[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718670	0.86[CHD][hapmap]
rs718671	0.86[CHD][hapmap]
rs718672	0.81[CHD][hapmap]
rs718673	0.81[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs367249	ABCC13	cis	parietal	SCAN

Chromatin state (count:15 , 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	chr21:15589600-15601200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr21:15589600-15601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr21:15589800-15599000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr21:15589800-15599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:15589800-15600400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:15589800-15600600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr21:15589800-15600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:15589800-15601200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:15589800-15601200	Weak transcription	Fetal Brain Female	brain
11	chr21:15596200-15598400	Weak transcription	Ovary	ovary
12	chr21:15596200-15600600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:15596400-15600800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:15597000-15599400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr21:15597600-15598800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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