Variant report

Variant	rs2823161
Chromosome Location	chr21:16593184-16593185
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16434791..16438927-chr21:16592548..16596753,6	MCF-7	breast:
2	chr21:16592572..16594145-chr21:16598966..16600657,2	MCF-7	breast:
3	chr21:16435852..16438238-chr21:16592639..16595685,3	MCF-7	breast:
4	chr21:16586940..16589372-chr21:16591214..16594501,3	MCF-7	breast:
5	chr21:16584909..16587844-chr21:16591132..16593725,3	K562	blood:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2823158	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2823165	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs2823168	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs2823169	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs2823170	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823177	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57845248	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7281303	0.80[CEU][hapmap]

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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1837138	chr21:16588414-16593184	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv587059	chr21:16588414-16600408	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2823161	C21orf91	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16591400-16595200	Enhancers	Primary hematopoietic stem cells	blood
2	chr21:16591600-16597400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr21:16592000-16596400	Enhancers	A549	lung
4	chr21:16592200-16594800	Enhancers	Adipose Nuclei	Adipose
5	chr21:16592200-16596000	Enhancers	HepG2	liver
6	chr21:16592200-16597800	Enhancers	Hela-S3	cervix
7	chr21:16592400-16593200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:16592400-16593200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:16592400-16593600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:16592400-16594200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr21:16592400-16595200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:16592400-16596000	Enhancers	Liver	Liver
13	chr21:16592400-16597800	Enhancers	NHEK	skin
14	chr21:16592600-16593200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr21:16592600-16593200	Enhancers	Fetal Lung	lung
16	chr21:16592600-16593600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr21:16592600-16593800	Weak transcription	HMEC	breast
18	chr21:16592600-16594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr21:16592600-16594000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr21:16592600-16595800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:16592600-16596200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:16592800-16593200	Enhancers	Fetal Brain Male	brain
23	chr21:16592800-16593400	Weak transcription	NHLF	lung
24	chr21:16592800-16594000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr21:16592800-16594400	Weak transcription	GM12878-XiMat	blood
26	chr21:16592800-16594800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:16592800-16597400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:16593000-16593200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr21:16593000-16594000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:16593000-16594000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:16593000-16594400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:16593000-16594400	Weak transcription	Psoas Muscle	Psoas
33	chr21:16593000-16595400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:16593000-16597600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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