Variant report

Variant	rs219793
Chromosome Location	chr21:37826310-37826311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11088346	1.00[CHD][hapmap]
rs218643	0.81[EUR][1000 genomes]
rs218645	0.85[EUR][1000 genomes]
rs219775	0.81[CEU][hapmap]
rs219777	0.81[CEU][hapmap]
rs219780	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs219784	1.00[CHD][hapmap]
rs219785	0.87[EUR][1000 genomes]
rs219786	0.86[EUR][1000 genomes]
rs219788	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs219789	0.87[EUR][1000 genomes]
rs2244034	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2244237	0.90[EUR][1000 genomes]
rs2633331	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2835342	1.00[CHD][hapmap]
rs2850082	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2850086	0.91[EUR][1000 genomes]
rs2850101	0.90[EUR][1000 genomes]
rs2850109	0.90[EUR][1000 genomes]
rs8596	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	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
rs219793	DSCR6	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
3	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:37810600-37829200	Weak transcription	HSMM	muscle
5	chr21:37810600-37829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:37810800-37826400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr21:37810800-37827000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:37819400-37831400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr21:37823000-37826600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:37823200-37826800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:37823600-37826800	Weak transcription	Osteobl	bone
14	chr21:37824600-37826400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:37824800-37828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:37824800-37836800	Weak transcription	Right Atrium	heart
17	chr21:37825000-37829400	Weak transcription	Adipose Nuclei	Adipose
18	chr21:37825800-37826400	Enhancers	HepG2	liver
19	chr21:37825800-37828600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:37825800-37833600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:37826000-37827000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:37826000-37827000	Enhancers	Brain Hippocampus Middle	brain
23	chr21:37826000-37827200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr21:37826000-37827200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr21:37826000-37827200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr21:37826000-37827400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr21:37826000-37827400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr21:37826000-37827400	Enhancers	Fetal Muscle Leg	muscle
29	chr21:37826000-37827400	Enhancers	NH-A	brain
30	chr21:37826000-37827600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr21:37826000-37827600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr21:37826000-37827600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:37826000-37827600	Enhancers	Fetal Kidney	kidney
34	chr21:37826000-37827600	Enhancers	Fetal Lung	lung
35	chr21:37826000-37827800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:37826000-37828000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:37826000-37828200	Genic enhancers	HUVEC	blood vessel
38	chr21:37826000-37828400	Enhancers	Pancreas	Pancrea
39	chr21:37826200-37826400	Flanking Active TSS	A549	lung
40	chr21:37826200-37827400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr21:37826200-37827400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:37826200-37827400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr21:37826200-37827400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr21:37826200-37827400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:37826200-37827800	Enhancers	Ovary	ovary

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