Variant report

Variant	rs28484960
Chromosome Location	chr21:17159865-17159866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17139183..17140756-chr21:17159660..17161320,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11909953	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17241402	0.81[ASN][1000 genomes]
rs17307156	0.81[ASN][1000 genomes]
rs1986788	0.80[AFR][1000 genomes]
rs2183553	0.98[ASN][1000 genomes]
rs2823473	0.81[ASN][1000 genomes]
rs2823477	0.82[ASN][1000 genomes]
rs2823479	0.82[ASN][1000 genomes]
rs2823480	0.82[ASN][1000 genomes]
rs2823487	0.85[ASN][1000 genomes]
rs2823488	0.88[ASN][1000 genomes]
rs28553297	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28730511	0.81[ASN][1000 genomes]
rs55804442	0.88[ASN][1000 genomes]
rs58134477	0.82[ASN][1000 genomes]
rs60174740	0.88[ASN][1000 genomes]
rs73348818	0.94[ASN][1000 genomes]
rs73892561	0.94[ASN][1000 genomes]
rs8132755	1.00[ASN][1000 genomes]
rs9305754	0.97[ASN][1000 genomes]
rs9680115	0.81[ASN][1000 genomes]
rs9975374	0.91[ASN][1000 genomes]
rs9977019	0.94[ASN][1000 genomes]
rs9980591	0.94[ASN][1000 genomes]
rs9982630	0.94[ASN][1000 genomes]
rs9984651	0.90[ASN][1000 genomes]
rs9985029	0.94[ASN][1000 genomes]

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	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	nsv1063035	chr21:17154222-17224344	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3349978	chr21:17159610-17160175	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17145800-17166600	Weak transcription	Psoas Muscle	Psoas
2	chr21:17148000-17160200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:17151600-17160600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr21:17151800-17191000	Weak transcription	NH-A	brain
5	chr21:17154800-17161000	Weak transcription	Stomach Mucosa	stomach
6	chr21:17155000-17160400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:17155000-17161200	Weak transcription	Gastric	stomach
8	chr21:17155000-17161200	Weak transcription	HMEC	breast
9	chr21:17155000-17165200	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:17155000-17166600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr21:17155000-17166800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:17155000-17171000	Weak transcription	Dnd41	blood
13	chr21:17155000-17179800	Weak transcription	Spleen	Spleen
14	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr21:17155000-17188600	Weak transcription	HepG2	liver
16	chr21:17155200-17160400	Weak transcription	Aorta	Aorta
17	chr21:17155200-17160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:17155200-17160600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:17155200-17160600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:17155200-17160800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:17155200-17160800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr21:17155200-17160800	Weak transcription	Hela-S3	cervix
23	chr21:17155200-17160800	Weak transcription	NHDF-Ad	bronchial
24	chr21:17155200-17161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:17155200-17161000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr21:17155200-17161000	Weak transcription	NHLF	lung
27	chr21:17155200-17161200	Weak transcription	Adipose Nuclei	Adipose
28	chr21:17155200-17161200	Weak transcription	Osteobl	bone
29	chr21:17155200-17162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:17155200-17163600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr21:17155200-17166000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:17155200-17166600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr21:17155200-17167600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:17155200-17168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr21:17155200-17168600	Weak transcription	K562	blood
36	chr21:17155200-17169800	Weak transcription	Liver	Liver
37	chr21:17155200-17169800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr21:17155200-17177000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr21:17155200-17177000	Weak transcription	Brain Anterior Caudate	brain
40	chr21:17155200-17177000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr21:17155200-17177000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr21:17155200-17179200	Weak transcription	Fetal Intestine Large	intestine
43	chr21:17155200-17179200	Weak transcription	Left Ventricle	heart
44	chr21:17155200-17181200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr21:17155200-17181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:17155200-17181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr21:17155200-17182200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr21:17155200-17183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr21:17155200-17183200	Weak transcription	Placenta	Placenta
50	chr21:17155200-17184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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