Variant report

Variant	rs60305922
Chromosome Location	chr21:17254442-17254443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11908733	1.00[AMR][1000 genomes]
rs11909513	1.00[AMR][1000 genomes]
rs11910291	1.00[AMR][1000 genomes]
rs11910940	1.00[AMR][1000 genomes]
rs11911155	1.00[AMR][1000 genomes]
rs16990721	1.00[AMR][1000 genomes]
rs16990739	1.00[AMR][1000 genomes]
rs16990800	1.00[AMR][1000 genomes]
rs16991283	1.00[AMR][1000 genomes]
rs7278387	1.00[AMR][1000 genomes]
rs7279840	1.00[AMR][1000 genomes]
rs73355473	1.00[AMR][1000 genomes]
rs73355475	1.00[AMR][1000 genomes]
rs73355491	1.00[AMR][1000 genomes]
rs8133076	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17223000-17257200	Weak transcription	NHLF	lung
2	chr21:17223600-17264400	Weak transcription	NHEK	skin
3	chr21:17228200-17256800	Weak transcription	Small Intestine	intestine
4	chr21:17233400-17256600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr21:17235200-17255600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr21:17236600-17254600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr21:17245400-17255400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:17245400-17255600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr21:17245400-17270400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr21:17245600-17255400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr21:17245800-17257600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr21:17246200-17256600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:17246200-17261600	Weak transcription	Right Ventricle	heart
14	chr21:17246400-17263400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:17247600-17254800	Weak transcription	Colonic Mucosa	Colon
16	chr21:17248200-17262400	Weak transcription	Pancreas	Pancrea
17	chr21:17248400-17255000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr21:17249000-17254600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr21:17251400-17256800	Weak transcription	K562	blood
20	chr21:17251400-17259000	Weak transcription	NHDF-Ad	bronchial
21	chr21:17252000-17255400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:17252200-17264600	Weak transcription	Hela-S3	cervix
23	chr21:17252600-17255200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
24	chr21:17252600-17256200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:17252600-17256800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr21:17252800-17254600	ZNF genes & repeats	Fetal Heart	heart
27	chr21:17252800-17254800	ZNF genes & repeats	A549	lung
28	chr21:17252800-17255400	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr21:17252800-17255400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr21:17252800-17255400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr21:17252800-17255400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:17252800-17255400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:17252800-17255800	Strong transcription	Fetal Thymus	thymus
34	chr21:17252800-17256200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr21:17252800-17256600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:17253000-17254800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr21:17253000-17255200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr21:17253000-17256800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr21:17253000-17259200	Weak transcription	Aorta	Aorta
40	chr21:17253000-17263400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr21:17253000-17268200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:17253200-17254800	Strong transcription	Primary T cells from cord blood	blood
43	chr21:17253200-17254800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:17253200-17254800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr21:17253200-17254800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr21:17253200-17254800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr21:17253200-17254800	Strong transcription	Dnd41	blood
48	chr21:17253200-17255000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr21:17253200-17255200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr21:17253200-17256800	Weak transcription	Lung	lung

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