Variant report

Variant	rs34663667
Chromosome Location	chr21:28336950-28336951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13046440	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13048512	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995097	1.00[ASN][1000 genomes]
rs2830552	1.00[ASN][1000 genomes]
rs2830593	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830603	1.00[ASN][1000 genomes]
rs34176988	1.00[ASN][1000 genomes]
rs34855936	0.83[ASN][1000 genomes]
rs35424917	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933916	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62216011	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6516749	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8130155	1.00[ASN][1000 genomes]
rs9977754	0.83[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	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
2	chr21:28331600-28338000	Weak transcription	Liver	Liver
3	chr21:28334000-28337400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr21:28334200-28337400	Weak transcription	Stomach Mucosa	stomach
5	chr21:28334400-28338000	Active TSS	Brain Germinal Matrix	brain
6	chr21:28334600-28337800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:28334800-28337800	Weak transcription	Aorta	Aorta
8	chr21:28334800-28337800	Active TSS	Psoas Muscle	Psoas
9	chr21:28335000-28337400	Weak transcription	Brain Anterior Caudate	brain
10	chr21:28335000-28340600	Active TSS	Ovary	ovary
11	chr21:28335200-28337000	Active TSS	NHLF	lung
12	chr21:28335200-28337200	Weak transcription	Fetal Brain Male	brain
13	chr21:28335200-28337200	Active TSS	HSMMtube	muscle
14	chr21:28335200-28340600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:28335200-28340600	Active TSS	NHDF-Ad	bronchial
16	chr21:28335400-28338600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:28335400-28340400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:28335600-28340000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr21:28335600-28340400	Active TSS	HSMM	muscle
20	chr21:28335800-28340400	Active TSS	Right Atrium	heart
21	chr21:28336000-28337000	Flanking Active TSS	Osteobl	bone
22	chr21:28336000-28337200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:28336000-28337200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr21:28336000-28337600	Active TSS	Colonic Mucosa	Colon
25	chr21:28336000-28337600	Active TSS	Duodenum Mucosa	Duodenum
26	chr21:28336000-28337600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
27	chr21:28336200-28337200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr21:28336200-28337600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:28336200-28337800	Active TSS	Rectal Smooth Muscle	rectum
30	chr21:28336400-28337400	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr21:28336400-28337400	Active TSS	Placenta	Placenta
32	chr21:28336400-28337800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
33	chr21:28336400-28338200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr21:28336400-28339200	Active TSS	Fetal Brain Female	brain
35	chr21:28336400-28340000	Active TSS	Colon Smooth Muscle	Colon
36	chr21:28336400-28340400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr21:28336600-28337000	Active TSS	Adipose Nuclei	Adipose
38	chr21:28336600-28337000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr21:28336600-28337200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr21:28336600-28337200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr21:28336600-28337200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr21:28336600-28337200	Active TSS	Spleen	Spleen
43	chr21:28336600-28337400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:28336600-28337600	Flanking Active TSS	Hela-S3	cervix
45	chr21:28336600-28337800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
46	chr21:28336600-28337800	Active TSS	Brain Hippocampus Middle	brain
47	chr21:28336600-28338000	Active TSS	Left Ventricle	heart
48	chr21:28336600-28338800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:28336600-28338800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr21:28336800-28337000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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