Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1076836	1.00[MEX][hapmap]
rs2101437	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219767	1.00[ASN][1000 genomes]
rs219768	1.00[ASN][1000 genomes]
rs219769	1.00[ASN][1000 genomes]
rs219770	1.00[ASN][1000 genomes]
rs219771	1.00[ASN][1000 genomes]
rs219772	1.00[ASN][1000 genomes]
rs219773	1.00[ASN][1000 genomes]
rs219774	1.00[ASN][1000 genomes]
rs219775	1.00[ASN][1000 genomes]
rs219776	1.00[ASN][1000 genomes]
rs219777	1.00[ASN][1000 genomes]
rs219778	1.00[ASN][1000 genomes]
rs219779	1.00[ASN][1000 genomes]
rs219781	1.00[ASN][1000 genomes]
rs219782	1.00[ASN][1000 genomes]
rs219783	1.00[ASN][1000 genomes]
rs219784	1.00[ASN][1000 genomes]
rs219787	1.00[ASN][1000 genomes]
rs2835343	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2835363	1.00[ASN][1000 genomes]
rs35692359	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801805	1.00[ASN][1000 genomes]
rs61077515	0.87[AFR][1000 genomes]
rs73902527	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
3	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:37810600-37829200	Weak transcription	HSMM	muscle
5	chr21:37810600-37829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:37810800-37824600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:37810800-37826400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr21:37810800-37827000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:37815000-37822200	Weak transcription	Osteobl	bone
12	chr21:37817600-37821200	Strong transcription	HUVEC	blood vessel
13	chr21:37818800-37819800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:37818800-37819800	Enhancers	Pancreas	Pancrea
15	chr21:37818800-37822800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:37819000-37826000	Weak transcription	NH-A	brain
17	chr21:37819400-37831400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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