Variant report

Variant	rs34609314
Chromosome Location	chr21:28320902-28320903
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10482979	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11700721	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13047132	0.94[EUR][1000 genomes]
rs13047248	0.95[EUR][1000 genomes]
rs13048083	0.95[EUR][1000 genomes]
rs13051983	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1444269	0.95[EUR][1000 genomes]
rs149415	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017616	0.95[EUR][1000 genomes]
rs2830578	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2830590	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2830591	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3171407	0.95[EUR][1000 genomes]
rs35197958	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36125779	0.95[EUR][1000 genomes]
rs3746836	0.95[EUR][1000 genomes]
rs62215996	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283958	0.95[EUR][1000 genomes]
rs965135	0.83[AMR][1000 genomes];0.98[EUR][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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
2	chr21:28306600-28333600	Weak transcription	Fetal Intestine Large	intestine
3	chr21:28307600-28324800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
5	chr21:28315200-28321000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr21:28317000-28330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:28317600-28321600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr21:28318000-28321000	Genic enhancers	HSMMtube	muscle
9	chr21:28318400-28321200	Enhancers	Liver	Liver
10	chr21:28318600-28324800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr21:28318600-28327000	Weak transcription	Psoas Muscle	Psoas
12	chr21:28318600-28333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:28318600-28336600	Weak transcription	Left Ventricle	heart
14	chr21:28318800-28324600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:28319000-28322000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:28319200-28334200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr21:28319400-28321200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:28319400-28323200	Weak transcription	Fetal Brain Male	brain
19	chr21:28319400-28326600	Weak transcription	Brain Germinal Matrix	brain
20	chr21:28319400-28328600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:28319600-28321000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr21:28319600-28322200	Weak transcription	Fetal Lung	lung
23	chr21:28319600-28326600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:28319600-28328400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr21:28319600-28334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr21:28319800-28321000	Genic enhancers	Fetal Muscle Leg	muscle
27	chr21:28319800-28322400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:28319800-28324800	Weak transcription	NHLF	lung
29	chr21:28319800-28326000	Weak transcription	Fetal Brain Female	brain
30	chr21:28320000-28321000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:28320000-28322000	Weak transcription	Fetal Stomach	stomach
32	chr21:28320000-28322200	Weak transcription	Placenta	Placenta
33	chr21:28320000-28324000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr21:28320000-28324600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:28320400-28321000	Genic enhancers	Adipose Nuclei	Adipose
36	chr21:28320400-28321000	Genic enhancers	Fetal Kidney	kidney
37	chr21:28320400-28321000	Genic enhancers	Osteobl	bone
38	chr21:28320400-28322400	Genic enhancers	NHDF-Ad	bronchial
39	chr21:28320400-28323800	Enhancers	Dnd41	blood
40	chr21:28320600-28321000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr21:28320600-28321000	Genic enhancers	HSMM	muscle
42	chr21:28320800-28321000	Enhancers	Brain Substantia Nigra	brain
43	chr21:28320800-28323800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr21:28320800-28326600	Weak transcription	Ovary	ovary

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