Variant report

Variant	rs438349
Chromosome Location	chr21:28314542-28314543
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs151056	0.82[ASN][1000 genomes]
rs151057	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs162487	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162494	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs162495	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs162496	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs162497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs162499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs162512	0.83[EUR][1000 genomes]
rs162514	0.83[EUR][1000 genomes]
rs162515	0.83[EUR][1000 genomes]
rs162517	0.83[EUR][1000 genomes]
rs162518	0.83[EUR][1000 genomes]
rs162519	0.82[EUR][1000 genomes]
rs162522	0.82[EUR][1000 genomes]
rs162523	0.83[EUR][1000 genomes]
rs162524	0.83[EUR][1000 genomes]
rs162525	0.83[EUR][1000 genomes]
rs162526	0.83[EUR][1000 genomes]
rs162527	0.81[EUR][1000 genomes]
rs162528	0.82[EUR][1000 genomes]
rs162529	0.82[EUR][1000 genomes]
rs162530	0.82[EUR][1000 genomes]
rs16979458	0.93[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs170655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170657	0.87[EUR][1000 genomes]
rs229045	0.83[ASN][1000 genomes]
rs229046	0.92[ASN][1000 genomes]
rs229049	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs229050	0.92[ASN][1000 genomes]
rs229051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229053	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs229059	0.83[EUR][1000 genomes]
rs229062	0.83[EUR][1000 genomes]
rs229066	0.83[EUR][1000 genomes]
rs229068	0.83[EUR][1000 genomes]
rs229072	0.83[EUR][1000 genomes]
rs229073	0.83[EUR][1000 genomes]
rs229074	0.83[EUR][1000 genomes]
rs229077	0.89[EUR][1000 genomes]
rs229079	0.85[JPT][hapmap]
rs229086	0.89[EUR][1000 genomes]
rs229090	0.83[ASN][1000 genomes]
rs233897	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs233898	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2830584	0.93[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2830588	0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2830589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs35650435	0.82[EUR][1000 genomes]
rs459804	0.82[EUR][1000 genomes]
rs7281968	0.83[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
2	chr21:28294600-28318000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:28294600-28318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:28295400-28318200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:28296600-28315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:28296800-28318200	Weak transcription	Left Ventricle	heart
7	chr21:28298800-28318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:28305800-28319200	Weak transcription	Placenta	Placenta
9	chr21:28306600-28333600	Weak transcription	Fetal Intestine Large	intestine
10	chr21:28307400-28318200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:28307400-28318200	Weak transcription	Fetal Stomach	stomach
12	chr21:28307600-28324800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
14	chr21:28311800-28314600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:28311800-28315000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr21:28312200-28314800	Enhancers	Osteobl	bone
17	chr21:28312200-28315800	Genic enhancers	HSMM	muscle
18	chr21:28312200-28318200	Weak transcription	Fetal Kidney	kidney
19	chr21:28312200-28318200	Weak transcription	Fetal Muscle Leg	muscle
20	chr21:28312200-28318200	Weak transcription	Psoas Muscle	Psoas
21	chr21:28312400-28315200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:28312400-28315200	Weak transcription	Ovary	ovary
23	chr21:28312400-28315400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:28312400-28318400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr21:28312600-28318200	Weak transcription	Fetal Lung	lung
26	chr21:28312800-28314800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:28313000-28317200	Genic enhancers	HSMMtube	muscle
28	chr21:28313200-28318000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr21:28313200-28318000	Weak transcription	NHLF	lung
30	chr21:28313200-28318400	Weak transcription	Liver	Liver
31	chr21:28313400-28316200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr21:28313600-28318200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr21:28313600-28319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr21:28314000-28314600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr21:28314000-28315400	Weak transcription	Adipose Nuclei	Adipose
36	chr21:28314000-28316200	Genic enhancers	NHDF-Ad	bronchial
37	chr21:28314400-28315600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:28314400-28318000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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