Variant report

Variant	rs2823644
Chromosome Location	chr21:17580617-17580618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12106318	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12106447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533	0.83[JPT][hapmap]
rs1534	0.83[JPT][hapmap]
rs1626109	0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs16994550	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16994832	0.83[JPT][hapmap]
rs238973	0.83[JPT][hapmap]
rs239078	0.82[ASN][1000 genomes]
rs239080	0.82[ASN][1000 genomes]
rs2823639	0.86[CHD][hapmap]
rs2823646	0.82[CHD][hapmap]
rs2823648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823657	0.86[CHD][hapmap]
rs2823672	0.83[JPT][hapmap]
rs2823676	0.80[CHD][hapmap];0.83[JPT][hapmap];0.87[TSI][hapmap]
rs2823677	0.83[JPT][hapmap]
rs2823679	0.83[JPT][hapmap]
rs55847255	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59897117	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62219500	0.81[EUR][1000 genomes]
rs62219531	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62219532	0.88[EUR][1000 genomes]
rs62219534	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62219536	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62219539	0.82[ASN][1000 genomes]
rs62221870	0.83[EUR][1000 genomes]
rs6517693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7279847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7282249	0.82[ASN][1000 genomes]
rs73890704	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127653	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]
rs8132399	0.82[CHB][hapmap]
rs8132985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17567600-17583600	Weak transcription	Left Ventricle	heart
2	chr21:17569800-17583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:17569800-17583600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:17569800-17583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:17570000-17583400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr21:17570000-17583600	Weak transcription	Osteobl	bone
7	chr21:17570400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr21:17571400-17583600	Weak transcription	Psoas Muscle	Psoas
9	chr21:17571400-17583600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:17571600-17583800	Weak transcription	HUVEC	blood vessel
11	chr21:17573400-17583800	Weak transcription	Hela-S3	cervix
12	chr21:17573600-17582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:17574400-17582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:17576000-17596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:17576400-17581200	Weak transcription	Ovary	ovary
16	chr21:17576400-17583600	Weak transcription	Colon Smooth Muscle	Colon
17	chr21:17578200-17580800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:17578200-17583600	Weak transcription	Brain Angular Gyrus	brain
19	chr21:17578200-17583600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr21:17578200-17583600	Weak transcription	Brain Hippocampus Middle	brain
21	chr21:17578200-17583600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr21:17578600-17582200	Weak transcription	Brain Anterior Caudate	brain
23	chr21:17579800-17583800	Weak transcription	Adipose Nuclei	Adipose
24	chr21:17580200-17582800	Weak transcription	Liver	Liver

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