Variant report

Variant	rs233599
Chromosome Location	chr21:28329010-28329011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs151058	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs151064	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs229048	0.97[ASN][1000 genomes]
rs233577	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs233598	1.00[ASN][1000 genomes]
rs233894	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2830580	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2830581	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2830585	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2830586	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs439517	0.86[EUR][1000 genomes];0.82[ASN][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:38 , 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	chr21:28319600-28334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:28323200-28334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:28325000-28332200	Weak transcription	Spleen	Spleen
11	chr21:28325600-28330200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr21:28325600-28331000	Weak transcription	Fetal Kidney	kidney
13	chr21:28325600-28334200	Weak transcription	NHLF	lung
14	chr21:28326400-28330800	Enhancers	Fetal Brain Male	brain
15	chr21:28327000-28329400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:28327200-28334800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:28327400-28330000	Weak transcription	Brain Germinal Matrix	brain
18	chr21:28327400-28330000	Weak transcription	Osteobl	bone
19	chr21:28327400-28330600	Weak transcription	Fetal Brain Female	brain
20	chr21:28327400-28331200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr21:28327400-28333600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr21:28327600-28329400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:28327600-28332200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr21:28328000-28333800	Genic enhancers	NHDF-Ad	bronchial
25	chr21:28328200-28329600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr21:28328200-28329600	Enhancers	Fetal Lung	lung
27	chr21:28328400-28329200	Enhancers	Fetal Stomach	stomach
28	chr21:28328400-28329400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:28328600-28329200	Active TSS	Ovary	ovary
30	chr21:28328600-28330000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:28328800-28329400	Enhancers	Adipose Nuclei	Adipose
32	chr21:28328800-28329400	Weak transcription	Colon Smooth Muscle	Colon
33	chr21:28328800-28330000	Weak transcription	Fetal Muscle Leg	muscle
34	chr21:28328800-28330000	Enhancers	HSMMtube	muscle
35	chr21:28328800-28334400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr21:28329000-28329400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr21:28329000-28329600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:28329000-28330000	Strong transcription	HSMM	muscle

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