Variant report

Variant	rs6517693
Chromosome Location	chr21:17572240-17572241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12106318	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12106447	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1626109	0.95[CHD][hapmap]
rs16994550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2823639	0.86[CHD][hapmap]
rs2823644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2823646	0.82[CHD][hapmap]
rs2823648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823657	0.86[CHD][hapmap]
rs2823676	0.80[CHD][hapmap]
rs55847255	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59897117	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62219531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62219534	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7279847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73890704	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8127653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8132399	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8132985	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

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:21 , 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	chr21:17571200-17573200	Weak transcription	Hela-S3	cervix
13	chr21:17571200-17577200	Weak transcription	Brain Hippocampus Middle	brain
14	chr21:17571200-17577800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr21:17571400-17572600	Weak transcription	Adipose Nuclei	Adipose
16	chr21:17571400-17572600	Weak transcription	Ovary	ovary
17	chr21:17571400-17583600	Weak transcription	Psoas Muscle	Psoas
18	chr21:17571400-17583600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:17571600-17572400	Enhancers	GM12878-XiMat	blood
20	chr21:17571600-17583800	Weak transcription	HUVEC	blood vessel
21	chr21:17572200-17573400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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