Variant report

Variant	rs226794
Chromosome Location	chr21:28302355-28302356
allele	A/G
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:5)

rs_ID	r²[population]
rs11088016	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs151065	1.00[ASW][hapmap];0.86[CEU][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2249333	1.00[ASW][hapmap];0.86[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2249350	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes]
rs467691	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv3455355	chr21:28298818-28302569	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv3455356	chr21:28298818-28302569	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28291000-28311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr21:28291600-28312200	Strong transcription	HSMM	muscle
3	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
4	chr21:28293800-28303600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:28294600-28305800	Weak transcription	Small Intestine	intestine
6	chr21:28294600-28318000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr21:28294600-28318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr21:28294800-28307200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28295000-28303600	Weak transcription	Fetal Intestine Small	intestine
10	chr21:28295200-28306600	Strong transcription	Osteobl	bone
11	chr21:28295200-28310000	Strong transcription	Adipose Nuclei	Adipose
12	chr21:28295400-28318200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:28296200-28307800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr21:28296600-28315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr21:28296800-28304000	Weak transcription	Fetal Intestine Large	intestine
16	chr21:28296800-28304200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr21:28296800-28305000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:28296800-28307400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr21:28296800-28308200	Weak transcription	Fetal Lung	lung
20	chr21:28296800-28318200	Weak transcription	Left Ventricle	heart
21	chr21:28297000-28311800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr21:28297800-28308200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:28298600-28302600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr21:28298600-28311600	Weak transcription	Brain Germinal Matrix	brain
25	chr21:28298600-28313000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr21:28298800-28304000	Weak transcription	Placenta	Placenta
27	chr21:28298800-28311000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr21:28298800-28318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr21:28299400-28305600	Weak transcription	Fetal Heart	heart
30	chr21:28300200-28304800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr21:28300200-28311200	Weak transcription	NHLF	lung
32	chr21:28300400-28303600	Weak transcription	Fetal Stomach	stomach
33	chr21:28300400-28304200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr21:28300400-28304200	Weak transcription	Spleen	Spleen
35	chr21:28301200-28309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:28301400-28302600	Strong transcription	Ovary	ovary
37	chr21:28301400-28307600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr21:28301400-28308200	Strong transcription	NHDF-Ad	bronchial
39	chr21:28301800-28303200	Strong transcription	Fetal Muscle Leg	muscle
40	chr21:28301800-28308400	Strong transcription	Fetal Kidney	kidney
41	chr21:28301800-28313000	Strong transcription	HSMMtube	muscle
42	chr21:28302200-28302400	Enhancers	Esophagus	oesophagus
43	chr21:28302200-28302600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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