Variant report

Variant	rs2830825
Chromosome Location	chr21:28647056-28647057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1382006	0.81[ASN][1000 genomes]
rs2156292	0.85[EUR][1000 genomes]
rs235930	0.82[EUR][1000 genomes]
rs237045	0.86[EUR][1000 genomes]
rs237046	0.86[EUR][1000 genomes]
rs237047	0.86[EUR][1000 genomes]
rs464652	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv834070	chr21:28546745-28709950	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv587344	chr21:28631839-28659396	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv587345	chr21:28631839-28663985	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv913662	chr21:28632360-28702427	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv913663	chr21:28635971-28670180	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv913664	chr21:28643868-28664865	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28638800-28647800	Weak transcription	Adipose Nuclei	Adipose
2	chr21:28641600-28647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:28641600-28649000	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:28642600-28647600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:28642800-28647200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:28642800-28647200	Weak transcription	NH-A	brain
7	chr21:28642800-28647600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:28642800-28647800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:28642800-28647800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:28642800-28647800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:28642800-28647800	Weak transcription	NHDF-Ad	bronchial
12	chr21:28642800-28649200	Weak transcription	Ovary	ovary
13	chr21:28643000-28647800	Weak transcription	HMEC	breast
14	chr21:28643000-28647800	Weak transcription	NHEK	skin
15	chr21:28643000-28647800	Weak transcription	NHLF	lung
16	chr21:28643000-28649200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:28645200-28650400	Enhancers	Dnd41	blood
18	chr21:28646400-28647200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr21:28646400-28647200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr21:28646800-28648000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr21:28647000-28647200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr21:28647000-28647400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:28647000-28648800	Enhancers	HSMM	muscle
24	chr21:28647000-28650200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr21:28647000-28650200	Enhancers	Osteobl	bone

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