Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:40477468..40480285-chr21:40483981..40486876,2	K562	blood:
2	chr21:40483944..40486730-chr21:40488695..40490921,2	MCF-7	breast:
3	chr21:40429900..40432351-chr21:40483405..40486295,2	MCF-7	breast:
4	chr21:40480995..40484748-chr21:40484754..40488551,5	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1013129	0.81[CEU][hapmap];0.88[CHB][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap]
rs1554930	0.83[MEX][hapmap]
rs1554931	0.81[MEX][hapmap]
rs1810384	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs1882777	0.88[CHB][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap]
rs2142112	0.88[CHB][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap]
rs2836895	0.80[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs373728	0.87[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs375073	0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs431284	0.81[EUR][1000 genomes]
rs431704	0.81[EUR][1000 genomes]
rs442916	0.81[ASN][1000 genomes]
rs454902	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8128678	0.80[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs909181	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs941385	0.80[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs9974464	0.80[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]

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	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs431376	RCAN1	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40478600-40486200	Weak transcription	Psoas Muscle	Psoas
2	chr21:40478600-40497000	Weak transcription	Right Atrium	heart
3	chr21:40481400-40486400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr21:40482000-40485600	Enhancers	Fetal Lung	lung
5	chr21:40482200-40485400	Enhancers	Fetal Stomach	stomach
6	chr21:40482600-40486400	Weak transcription	HepG2	liver
7	chr21:40483000-40485800	Weak transcription	Aorta	Aorta
8	chr21:40483000-40486400	Weak transcription	Ovary	ovary
9	chr21:40483200-40487000	Weak transcription	Lung	lung
10	chr21:40483200-40488000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:40483800-40486600	Weak transcription	NHLF	lung
12	chr21:40484000-40485600	Enhancers	Fetal Muscle Leg	muscle
13	chr21:40484200-40486200	Weak transcription	Osteobl	bone
14	chr21:40484400-40486000	Weak transcription	NHDF-Ad	bronchial
15	chr21:40484400-40486600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:40484600-40486400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:40484800-40485800	Enhancers	Fetal Brain Male	brain
18	chr21:40484800-40486400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:40484800-40486400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:40485000-40485600	Enhancers	Fetal Brain Female	brain
21	chr21:40485000-40487000	Weak transcription	Stomach Smooth Muscle	stomach

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