Variant report

Variant	rs2823027
Chromosome Location	chr21:16427140-16427141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16421628..16424109-chr21:16426147..16427828,2	K562	blood:
2	chr21:16421439..16423697-chr21:16426275..16428108,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1041404	0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs13052454	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2026848	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2142216	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2142219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2403873	0.98[ASN][1000 genomes]
rs2823003	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2823017	0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2823021	0.80[YRI][hapmap]
rs2823022	0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2823026	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2823029	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4356736	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8133012	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8133792	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9982976	0.81[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16407400-16431200	Weak transcription	NHEK	skin
2	chr21:16414400-16427200	Weak transcription	Aorta	Aorta
3	chr21:16415200-16431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:16415400-16427200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:16415400-16429600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr21:16419600-16427200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:16420400-16434800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:16422000-16427800	Enhancers	Colon Smooth Muscle	Colon
9	chr21:16422800-16427400	Enhancers	Brain Cingulate Gyrus	brain
10	chr21:16422800-16427600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr21:16422800-16435200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:16423000-16427800	Enhancers	Dnd41	blood
13	chr21:16423200-16427600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr21:16423200-16429200	Enhancers	Brain Hippocampus Middle	brain
15	chr21:16423600-16435200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr21:16423800-16435200	Weak transcription	Fetal Brain Male	brain
17	chr21:16424000-16427200	Enhancers	Osteobl	bone
18	chr21:16424000-16428200	Enhancers	Brain Anterior Caudate	brain
19	chr21:16424000-16429800	Weak transcription	Fetal Stomach	stomach
20	chr21:16424200-16429400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr21:16424200-16429600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr21:16424200-16429600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:16424200-16429600	Weak transcription	Lung	lung
24	chr21:16424400-16427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:16424400-16427200	Weak transcription	Left Ventricle	heart
26	chr21:16424400-16427200	Weak transcription	Pancreas	Pancrea
27	chr21:16424400-16428800	Enhancers	Liver	Liver
28	chr21:16424400-16429200	Weak transcription	Fetal Lung	lung
29	chr21:16424400-16429600	Weak transcription	Fetal Muscle Leg	muscle
30	chr21:16424400-16429600	Weak transcription	Ovary	ovary
31	chr21:16424400-16435400	Weak transcription	Gastric	stomach
32	chr21:16424600-16429600	Weak transcription	Right Atrium	heart
33	chr21:16424800-16427200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:16424800-16427400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr21:16424800-16427600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr21:16424800-16429200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr21:16424800-16429200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:16424800-16429200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:16424800-16429200	Weak transcription	HSMM	muscle
40	chr21:16424800-16429400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr21:16424800-16429600	Enhancers	Adipose Nuclei	Adipose
42	chr21:16424800-16429600	Enhancers	Fetal Intestine Small	intestine
43	chr21:16424800-16431400	Enhancers	Fetal Intestine Large	intestine
44	chr21:16425000-16427200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr21:16425000-16428800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr21:16425000-16429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:16425000-16429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr21:16425000-16429200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr21:16425000-16429200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr21:16425000-16429200	Enhancers	Duodenum Mucosa	Duodenum

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