Variant report

Variant	rs8132985
Chromosome Location	chr21:17585077-17585078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12106318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12106447	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533	0.84[JPT][hapmap]
rs1534	0.84[JPT][hapmap]
rs1626109	1.00[JPT][hapmap]
rs16994550	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16994832	0.84[JPT][hapmap]
rs238973	0.84[JPT][hapmap]
rs239078	0.82[ASN][1000 genomes]
rs239080	0.82[ASN][1000 genomes]
rs2823644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823672	0.84[JPT][hapmap]
rs2823676	0.83[JPT][hapmap]
rs2823677	0.84[JPT][hapmap]
rs2823679	0.84[JPT][hapmap]
rs2823689	0.82[CHB][hapmap]
rs55847255	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59897117	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62219499	0.80[EUR][1000 genomes]
rs62219500	0.83[EUR][1000 genomes]
rs62219531	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62219532	0.90[EUR][1000 genomes]
rs62219534	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62219536	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62219539	0.82[ASN][1000 genomes]
rs62221870	0.85[EUR][1000 genomes]
rs6517693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7279847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7282249	0.82[ASN][1000 genomes]
rs73890704	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8132399	0.84[CHB][hapmap]

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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17576000-17596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:17582200-17585400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr21:17583600-17585400	Enhancers	Brain Cingulate Gyrus	brain
4	chr21:17583600-17586200	Enhancers	Brain Hippocampus Middle	brain
5	chr21:17583800-17585200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr21:17583800-17585400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:17584000-17585400	Active TSS	Psoas Muscle	Psoas
8	chr21:17584000-17587600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:17584000-17598800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:17584200-17585200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:17584200-17585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:17584200-17586200	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr21:17584200-17587800	Weak transcription	Brain Substantia Nigra	brain
14	chr21:17584200-17592200	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:17584200-17592200	Weak transcription	Fetal Stomach	stomach
16	chr21:17584400-17585400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:17584400-17586800	Enhancers	Liver	Liver
18	chr21:17584400-17588200	Weak transcription	Colon Smooth Muscle	Colon
19	chr21:17584400-17596800	Weak transcription	Ovary	ovary
20	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
21	chr21:17584600-17585200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr21:17584600-17585400	Enhancers	Brain Anterior Caudate	brain
23	chr21:17584600-17585600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr21:17584600-17585800	Weak transcription	HUVEC	blood vessel
25	chr21:17584600-17587800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:17584600-17587800	Weak transcription	Fetal Lung	lung
27	chr21:17584600-17588000	Weak transcription	Fetal Kidney	kidney
28	chr21:17584600-17589000	Weak transcription	Right Atrium	heart
29	chr21:17584600-17596600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr21:17584600-17596600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:17584800-17585200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:17584800-17585200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:17584800-17585200	Weak transcription	Brain Angular Gyrus	brain
34	chr21:17584800-17585200	Enhancers	Osteobl	bone
35	chr21:17585000-17585400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr21:17585000-17586200	Enhancers	Fetal Heart	heart
37	chr21:17585000-17588600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:17585000-17592800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:17585000-17595200	Weak transcription	NHDF-Ad	bronchial
40	chr21:17585000-17612200	Weak transcription	Adipose Nuclei	Adipose

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