Variant report

Variant	rs8132399
Chromosome Location	chr21:17571475-17571476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16994550	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2823644	0.82[CHB][hapmap]
rs2823648	0.82[CHB][hapmap]
rs62219531	0.92[ASN][1000 genomes]
rs6517693	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7279847	0.81[CHB][hapmap]
rs8132985	0.84[CHB][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	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	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17567600-17583600	Weak transcription	Left Ventricle	heart
2	chr21:17569800-17577400	Weak transcription	Fetal Brain Male	brain
3	chr21:17569800-17579600	Weak transcription	NHDF-Ad	bronchial
4	chr21:17569800-17583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:17569800-17583600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:17569800-17583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:17570000-17576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17570000-17583400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:17570000-17583600	Weak transcription	Osteobl	bone
10	chr21:17570200-17573000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:17570400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:17570800-17571600	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr21:17570800-17571800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:17571000-17571600	Enhancers	Brain Substantia Nigra	brain
15	chr21:17571000-17571800	Enhancers	Brain Angular Gyrus	brain
16	chr21:17571200-17571600	Weak transcription	GM12878-XiMat	blood
17	chr21:17571200-17571600	Enhancers	HUVEC	blood vessel
18	chr21:17571200-17572200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr21:17571200-17573200	Weak transcription	Hela-S3	cervix
20	chr21:17571200-17577200	Weak transcription	Brain Hippocampus Middle	brain
21	chr21:17571200-17577800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr21:17571400-17572600	Weak transcription	Adipose Nuclei	Adipose
23	chr21:17571400-17572600	Weak transcription	Ovary	ovary
24	chr21:17571400-17583600	Weak transcription	Psoas Muscle	Psoas
25	chr21:17571400-17583600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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