Variant report

Variant	rs12626485
Chromosome Location	chr21:28327320-28327321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17576265	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17653989	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3746839	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61293153	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv3404627	chr21:28326281-28329379	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	miRNA	n/a	inside rSNPs	n/a
6	esv3433032	chr21:28326731-28329129	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:46 , 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	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
4	chr21:28317000-28330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:28318600-28333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:28318600-28336600	Weak transcription	Left Ventricle	heart
7	chr21:28319200-28334200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr21:28319400-28328600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:28319600-28328400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr21:28319600-28334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:28321000-28328400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:28322000-28327400	Strong transcription	Osteobl	bone
13	chr21:28322600-28328400	Weak transcription	Fetal Stomach	stomach
14	chr21:28323200-28334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr21:28324600-28327600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:28324600-28327600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr21:28325000-28332200	Weak transcription	Spleen	Spleen
18	chr21:28325600-28330200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr21:28325600-28331000	Weak transcription	Fetal Kidney	kidney
20	chr21:28325600-28334200	Weak transcription	NHLF	lung
21	chr21:28325800-28328000	Enhancers	NHDF-Ad	bronchial
22	chr21:28326200-28328600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:28326400-28329000	Genic enhancers	HSMM	muscle
24	chr21:28326400-28330800	Enhancers	Fetal Brain Male	brain
25	chr21:28326600-28327400	Enhancers	Brain Germinal Matrix	brain
26	chr21:28326800-28327400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr21:28326800-28327800	Enhancers	Adipose Nuclei	Adipose
28	chr21:28326800-28329000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr21:28327000-28327400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:28327000-28327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr21:28327000-28327400	Enhancers	Fetal Brain Female	brain
32	chr21:28327000-28327400	Enhancers	Psoas Muscle	Psoas
33	chr21:28327000-28327400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr21:28327000-28327600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:28327000-28328800	Enhancers	Fetal Muscle Leg	muscle
36	chr21:28327000-28329400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr21:28327200-28327400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr21:28327200-28327400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:28327200-28327400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:28327200-28327600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:28327200-28327600	Flanking Active TSS	HSMMtube	muscle
42	chr21:28327200-28328200	Weak transcription	Fetal Lung	lung
43	chr21:28327200-28328400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr21:28327200-28328400	Weak transcription	Ovary	ovary
45	chr21:28327200-28329000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr21:28327200-28334800	Weak transcription	Muscle Satellite Cultured Cells	--

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