Variant report

Variant	rs73378417
Chromosome Location	chr21:28647632-28647633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs59196678	1.00[EUR][1000 genomes]
rs73371928	1.00[EUR][1000 genomes]
rs73371930	1.00[EUR][1000 genomes]
rs73371940	1.00[EUR][1000 genomes]
rs73371943	1.00[EUR][1000 genomes]
rs73376483	1.00[EUR][1000 genomes]
rs73376485	1.00[EUR][1000 genomes]
rs73376489	1.00[EUR][1000 genomes]
rs73376492	1.00[EUR][1000 genomes]
rs73376501	1.00[EUR][1000 genomes]
rs73378415	1.00[EUR][1000 genomes]
rs73900801	1.00[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	chr21:28641600-28649000	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:28642800-28647800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:28642800-28647800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28642800-28647800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:28642800-28647800	Weak transcription	NHDF-Ad	bronchial
7	chr21:28642800-28649200	Weak transcription	Ovary	ovary
8	chr21:28643000-28647800	Weak transcription	HMEC	breast
9	chr21:28643000-28647800	Weak transcription	NHEK	skin
10	chr21:28643000-28647800	Weak transcription	NHLF	lung
11	chr21:28643000-28649200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:28645200-28650400	Enhancers	Dnd41	blood
13	chr21:28646800-28648000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr21:28647000-28648800	Enhancers	HSMM	muscle
15	chr21:28647000-28650200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr21:28647000-28650200	Enhancers	Osteobl	bone
17	chr21:28647200-28647800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr21:28647200-28648000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr21:28647200-28648400	Enhancers	NH-A	brain
20	chr21:28647200-28649000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:28647600-28648000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr21:28647600-28648200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:28647600-28648400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:28647600-28648600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:28647600-28648600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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