Variant report

Variant	rs8127653
Chromosome Location	chr21:17577798-17577799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12106318	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12106447	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1626109	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs16994550	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs239078	0.84[ASN][1000 genomes]
rs239080	0.84[ASN][1000 genomes]
rs2823644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823677	0.86[CHB][hapmap]
rs55847255	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59897117	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62219531	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62219532	0.82[EUR][1000 genomes]
rs62219534	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62219536	0.83[ASN][1000 genomes]
rs62219539	0.84[ASN][1000 genomes]
rs6517693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7279847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7282249	0.84[ASN][1000 genomes]
rs73890704	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8132985	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17567600-17583600	Weak transcription	Left Ventricle	heart
2	chr21:17569800-17579600	Weak transcription	NHDF-Ad	bronchial
3	chr21:17569800-17583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:17569800-17583600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:17569800-17583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:17570000-17583400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr21:17570000-17583600	Weak transcription	Osteobl	bone
8	chr21:17570400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:17571200-17577800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:17571400-17583600	Weak transcription	Psoas Muscle	Psoas
11	chr21:17571400-17583600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr21:17571600-17583800	Weak transcription	HUVEC	blood vessel
13	chr21:17573400-17583800	Weak transcription	Hela-S3	cervix
14	chr21:17573600-17582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr21:17574400-17582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr21:17574600-17577800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr21:17576000-17596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:17576400-17581200	Weak transcription	Ovary	ovary
19	chr21:17576400-17583600	Weak transcription	Colon Smooth Muscle	Colon
20	chr21:17577200-17578200	Enhancers	Brain Hippocampus Middle	brain

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