Variant report

Variant	rs2823022
Chromosome Location	chr21:16422309-16422310
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16421628..16424109-chr21:16426147..16427828,2	K562	blood:
2	chr21:16418230..16420135-chr21:16421562..16423323,2	K562	blood:
3	chr21:16234362..16237223-chr21:16420995..16422874,2	MCF-7	breast:
4	chr21:16421439..16423697-chr21:16426275..16428108,2	MCF-7	breast:
5	chr21:16413029..16416695-chr21:16417733..16422719,4	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1041404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1997577	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2142216	0.85[ASN][1000 genomes]
rs2142218	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2248589	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2403873	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2403874	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823003	0.81[JPT][hapmap]
rs2823017	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823027	0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2823029	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4356736	0.85[ASN][1000 genomes]
rs7280064	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs8132398	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8133012	0.81[ASN][1000 genomes]
rs8133792	0.84[ASN][1000 genomes]
rs9982976	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv913411	chr21:16380025-16424421	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
3	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
4	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:16400800-16423000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:16401400-16423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:16401600-16423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:16401600-16426400	Weak transcription	HUVEC	blood vessel
9	chr21:16403600-16423200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:16407000-16423400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr21:16407400-16422600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr21:16407400-16422600	Weak transcription	Brain Anterior Caudate	brain
13	chr21:16407400-16425600	Weak transcription	NHDF-Ad	bronchial
14	chr21:16407400-16431200	Weak transcription	NHEK	skin
15	chr21:16408600-16425800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr21:16408800-16423800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:16410400-16426400	Weak transcription	HMEC	breast
18	chr21:16410600-16423400	Weak transcription	Fetal Brain Male	brain
19	chr21:16413600-16423000	Weak transcription	Brain Germinal Matrix	brain
20	chr21:16414400-16427200	Weak transcription	Aorta	Aorta
21	chr21:16415200-16422600	Weak transcription	Fetal Kidney	kidney
22	chr21:16415200-16423000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr21:16415200-16423200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr21:16415200-16424000	Weak transcription	HSMMtube	muscle
25	chr21:16415200-16431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:16415400-16422600	Weak transcription	Fetal Lung	lung
27	chr21:16415400-16422800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr21:16415400-16423000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:16415400-16423000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr21:16415400-16423000	Weak transcription	Esophagus	oesophagus
31	chr21:16415400-16423000	Weak transcription	Left Ventricle	heart
32	chr21:16415400-16423000	Weak transcription	Ovary	ovary
33	chr21:16415400-16423000	Weak transcription	Pancreas	Pancrea
34	chr21:16415400-16423000	Weak transcription	Dnd41	blood
35	chr21:16415400-16423600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:16415400-16427200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:16415400-16429600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr21:16415600-16423000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr21:16415600-16423000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:16415600-16423800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:16415600-16424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr21:16415600-16424000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr21:16415600-16424000	Weak transcription	Osteobl	bone
44	chr21:16415600-16424200	Weak transcription	NHLF	lung
45	chr21:16416400-16427000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:16417000-16423000	Weak transcription	Right Ventricle	heart
47	chr21:16417400-16422600	Weak transcription	HepG2	liver
48	chr21:16418000-16423000	Weak transcription	Psoas Muscle	Psoas
49	chr21:16418200-16423400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr21:16418600-16423000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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