Variant report

Variant	rs467595
Chromosome Location	chr21:28642735-28642736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs459294	0.93[EUR][1000 genomes]
rs459745	0.82[ASN][1000 genomes]
rs467955	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28638800-28647800	Weak transcription	Adipose Nuclei	Adipose
2	chr21:28640200-28642800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28640200-28642800	Enhancers	NHDF-Ad	bronchial
4	chr21:28640200-28643000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:28640200-28643000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr21:28640200-28643000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:28640200-28643200	Enhancers	Osteobl	bone
8	chr21:28640400-28642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr21:28640400-28642800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:28640400-28642800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:28640400-28642800	Enhancers	HSMM	muscle
12	chr21:28640400-28642800	Enhancers	NH-A	brain
13	chr21:28640800-28643000	Enhancers	NHLF	lung
14	chr21:28641400-28646800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr21:28641600-28643000	Enhancers	HMEC	breast
16	chr21:28641600-28643000	Enhancers	NHEK	skin
17	chr21:28641600-28647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:28641600-28649000	Weak transcription	Colon Smooth Muscle	Colon
19	chr21:28642000-28642800	Enhancers	Ovary	ovary
20	chr21:28642200-28642800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:28642400-28642800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:28642400-28642800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:28642400-28646200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr21:28642400-28646400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr21:28642600-28646800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr21:28642600-28647600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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