Variant report

Variant	rs457947
Chromosome Location	chr21:28338298-28338299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1497288	1.00[ASN][1000 genomes]
rs162488	1.00[ASN][1000 genomes]
rs162490	1.00[ASN][1000 genomes]
rs162491	1.00[ASN][1000 genomes]
rs162492	1.00[ASN][1000 genomes]
rs162493	1.00[ASN][1000 genomes]
rs162498	1.00[ASN][1000 genomes]
rs162501	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162503	1.00[ASN][1000 genomes]
rs162504	1.00[ASN][1000 genomes]
rs162505	1.00[ASN][1000 genomes]
rs162507	1.00[ASN][1000 genomes]
rs162508	1.00[ASN][1000 genomes]
rs162510	1.00[ASN][1000 genomes]
rs162516	1.00[ASN][1000 genomes]
rs162520	1.00[ASN][1000 genomes]
rs162521	1.00[ASN][1000 genomes]
rs162531	1.00[ASN][1000 genomes]
rs162533	1.00[ASN][1000 genomes]
rs162534	1.00[ASN][1000 genomes]
rs162535	1.00[ASN][1000 genomes]
rs162536	1.00[ASN][1000 genomes]
rs162537	1.00[ASN][1000 genomes]
rs162538	1.00[ASN][1000 genomes]
rs162539	1.00[ASN][1000 genomes]
rs162540	1.00[ASN][1000 genomes]
rs162541	1.00[ASN][1000 genomes]
rs229060	1.00[ASN][1000 genomes]
rs229061	1.00[ASN][1000 genomes]
rs229063	1.00[ASN][1000 genomes]
rs229064	1.00[ASN][1000 genomes]
rs229069	1.00[ASN][1000 genomes]
rs229071	1.00[ASN][1000 genomes]
rs229076	1.00[ASN][1000 genomes]
rs229078	1.00[ASN][1000 genomes]
rs229085	1.00[ASN][1000 genomes]
rs229087	1.00[ASN][1000 genomes]
rs229088	1.00[ASN][1000 genomes]
rs229093	1.00[ASN][1000 genomes]
rs229095	1.00[ASN][1000 genomes]
rs229097	1.00[ASN][1000 genomes]
rs229103	1.00[ASN][1000 genomes]
rs233899	1.00[ASN][1000 genomes]
rs233900	1.00[ASN][1000 genomes]
rs2830556	1.00[ASN][1000 genomes]
rs4817147	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73358063	1.00[ASN][1000 genomes]
rs73358075	1.00[ASN][1000 genomes]
rs73899348	1.00[ASN][1000 genomes]
rs8127064	1.00[ASN][1000 genomes]
rs8131204	1.00[ASN][1000 genomes]
rs8992	1.00[ASN][1000 genomes]
rs9647124	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28335000-28340600	Active TSS	Ovary	ovary
2	chr21:28335200-28340600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28335200-28340600	Active TSS	NHDF-Ad	bronchial
4	chr21:28335400-28338600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:28335400-28340400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:28335600-28340000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chr21:28335600-28340400	Active TSS	HSMM	muscle
8	chr21:28335800-28340400	Active TSS	Right Atrium	heart
9	chr21:28336400-28339200	Active TSS	Fetal Brain Female	brain
10	chr21:28336400-28340000	Active TSS	Colon Smooth Muscle	Colon
11	chr21:28336400-28340400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr21:28336600-28338800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:28336600-28338800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr21:28336800-28340400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr21:28337000-28338400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr21:28337000-28338600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr21:28337000-28339800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
18	chr21:28337200-28338400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:28337200-28339800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
20	chr21:28337200-28340600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr21:28337400-28338400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:28337400-28339600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr21:28337400-28340200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr21:28337400-28340400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr21:28337400-28340400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr21:28337400-28340600	Active TSS	NHLF	lung
27	chr21:28337400-28340800	Active TSS	Osteobl	bone
28	chr21:28337600-28338400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr21:28337600-28338400	Active TSS	Gastric	stomach
30	chr21:28337600-28338600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr21:28337600-28338600	Bivalent Enhancer	Fetal Brain Male	brain
32	chr21:28337600-28338800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr21:28337600-28338800	Flanking Active TSS	Right Ventricle	heart
34	chr21:28337600-28338800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr21:28337600-28340200	Active TSS	Brain Angular Gyrus	brain
36	chr21:28337600-28340400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr21:28337600-28340400	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr21:28337600-28340400	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr21:28337600-28340400	Active TSS	HSMMtube	muscle
40	chr21:28337600-28340600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
41	chr21:28337600-28340800	Active TSS	Fetal Kidney	kidney
42	chr21:28337600-28341000	Active TSS	Hela-S3	cervix
43	chr21:28337800-28338400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:28337800-28338400	Flanking Bivalent TSS/Enh	Placenta	Placenta
45	chr21:28337800-28338400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr21:28337800-28338800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:28337800-28338800	Flanking Active TSS	Pancreas	Pancrea
48	chr21:28337800-28338800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr21:28337800-28338800	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr21:28337800-28339200	Weak transcription	Fetal Heart	heart

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