Variant report

Variant	rs2823636
Chromosome Location	chr21:17570649-17570650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs171185	0.82[CEU][hapmap]
rs2039240	0.81[CEU][hapmap]
rs2051347	0.87[CEU][hapmap]
rs238961	0.87[ASN][1000 genomes]
rs2823634	0.82[CEU][hapmap]
rs2823635	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[GIH][hapmap];0.80[LWK][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2823636	SAMSN1	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17559000-17571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:17567600-17571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:17567600-17583600	Weak transcription	Left Ventricle	heart
4	chr21:17569800-17570800	Weak transcription	Fetal Muscle Leg	muscle
5	chr21:17569800-17571000	Weak transcription	Brain Angular Gyrus	brain
6	chr21:17569800-17571000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:17569800-17571000	Weak transcription	Fetal Lung	lung
8	chr21:17569800-17571000	Weak transcription	Ovary	ovary
9	chr21:17569800-17571000	Weak transcription	Psoas Muscle	Psoas
10	chr21:17569800-17571000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:17569800-17571200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:17569800-17571200	Enhancers	Hela-S3	cervix
13	chr21:17569800-17577400	Weak transcription	Fetal Brain Male	brain
14	chr21:17569800-17579600	Weak transcription	NHDF-Ad	bronchial
15	chr21:17569800-17583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:17569800-17583600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:17569800-17583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:17570000-17570800	Weak transcription	Adipose Nuclei	Adipose
19	chr21:17570000-17570800	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:17570000-17570800	Weak transcription	Right Atrium	heart
21	chr21:17570000-17570800	Weak transcription	GM12878-XiMat	blood
22	chr21:17570000-17570800	Enhancers	HUVEC	blood vessel
23	chr21:17570000-17571000	Weak transcription	Brain Anterior Caudate	brain
24	chr21:17570000-17571000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr21:17570000-17571000	Weak transcription	Brain Substantia Nigra	brain
26	chr21:17570000-17571000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr21:17570000-17571200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr21:17570000-17571200	Enhancers	Dnd41	blood
29	chr21:17570000-17576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:17570000-17583400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr21:17570000-17583600	Weak transcription	Osteobl	bone
32	chr21:17570200-17570800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr21:17570200-17573000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr21:17570400-17571000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:17570400-17584000	Weak transcription	Primary hematopoietic stem cells	blood

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