Variant report

Variant	rs28412951
Chromosome Location	chr21:28207155-28207156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12481917	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12482032	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12483589	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55661333	0.88[EUR][1000 genomes]
rs62215758	0.83[EUR][1000 genomes]
rs62217269	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7278046	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73185840	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73185844	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv3482	chr21:28191297-28221975	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
5	nsv470897	chr21:28196045-28216066	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28199000-28208400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr21:28199200-28208800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:28199800-28208800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:28200600-28208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:28203200-28209000	Enhancers	Dnd41	blood
6	chr21:28203600-28207800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:28204000-28210000	Weak transcription	HUVEC	blood vessel
8	chr21:28204600-28209000	Weak transcription	Brain Angular Gyrus	brain
9	chr21:28205400-28209000	Enhancers	NHEK	skin
10	chr21:28205400-28210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:28205600-28208800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:28205800-28208400	Enhancers	Hela-S3	cervix
13	chr21:28205800-28208800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:28205800-28209000	Weak transcription	Placenta	Placenta
15	chr21:28205800-28209000	Enhancers	HMEC	breast
16	chr21:28206000-28208200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:28206000-28208800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:28206000-28208800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr21:28206000-28208800	Weak transcription	Psoas Muscle	Psoas
20	chr21:28206200-28208000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr21:28206200-28209600	Weak transcription	Brain Anterior Caudate	brain
22	chr21:28206200-28209800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:28206200-28210000	Weak transcription	Lung	lung
24	chr21:28206200-28210000	Weak transcription	Right Atrium	heart
25	chr21:28206400-28207400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr21:28206400-28207400	Weak transcription	NHDF-Ad	bronchial
27	chr21:28206400-28207800	Weak transcription	HSMM	muscle
28	chr21:28206400-28208000	Weak transcription	NHLF	lung
29	chr21:28206400-28208200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr21:28206400-28208600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr21:28206400-28208800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:28206400-28208800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:28206400-28208800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr21:28206400-28208800	Weak transcription	Fetal Intestine Large	intestine
35	chr21:28206400-28208800	Weak transcription	Fetal Kidney	kidney
36	chr21:28206400-28208800	Weak transcription	Right Ventricle	heart
37	chr21:28206400-28208800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr21:28206400-28208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr21:28206400-28209000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr21:28206400-28209000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr21:28206400-28209400	Weak transcription	Left Ventricle	heart
42	chr21:28206400-28210000	Weak transcription	Spleen	Spleen
43	chr21:28206600-28207600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:28206600-28207600	Weak transcription	Brain Hippocampus Middle	brain
45	chr21:28206600-28207800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:28206600-28208000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr21:28206600-28208400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr21:28206600-28208800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr21:28206600-28208800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr21:28206600-28208800	Weak transcription	Fetal Muscle Leg	muscle

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