Variant report

Variant	rs17002241
Chromosome Location	chr21:27880636-27880637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17536734	0.93[EUR][1000 genomes]
rs2830267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2830268	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2830272	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv587335	chr21:27715263-27955385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27864800-27894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:27873000-27890200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:27873200-27890800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:27878600-27882200	Enhancers	Fetal Lung	lung
5	chr21:27878800-27880800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:27879400-27881400	Weak transcription	HSMMtube	muscle
7	chr21:27879600-27881400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:27879600-27885200	Weak transcription	NHEK	skin
9	chr21:27879800-27885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:27880000-27881000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr21:27880000-27882000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr21:27880000-27885200	Weak transcription	HMEC	breast
13	chr21:27880000-27885400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:27880000-27885400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr21:27880000-27885400	Weak transcription	HUVEC	blood vessel
16	chr21:27880200-27881200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:27880200-27881400	Weak transcription	Fetal Brain Female	brain
18	chr21:27880200-27885400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:27880200-27885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:27880600-27881400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:27880600-27885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:27880600-27911600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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