Variant report

Variant	rs9980755
Chromosome Location	chr21:17160549-17160550
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	chr21:17101644..17104508-chr21:17160279..17163152,3	K562	blood:
2	chr21:17139183..17140756-chr21:17159660..17161320,2	K562	blood:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28542431	1.00[AMR][1000 genomes]
rs459495	0.85[AFR][1000 genomes]
rs73355413	1.00[AMR][1000 genomes]
rs73355433	1.00[AMR][1000 genomes]
rs7364033	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9305732	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9974370	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9974439	1.00[AMR][1000 genomes]
rs9975190	0.82[AFR][1000 genomes]
rs9981661	1.00[AMR][1000 genomes]
rs9981989	1.00[AMR][1000 genomes]
rs9983023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984675	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984939	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

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	chr21:17151600-17160600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr21:17151800-17191000	Weak transcription	NH-A	brain
4	chr21:17154800-17161000	Weak transcription	Stomach Mucosa	stomach
5	chr21:17155000-17161200	Weak transcription	Gastric	stomach
6	chr21:17155000-17161200	Weak transcription	HMEC	breast
7	chr21:17155000-17165200	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:17155000-17166600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr21:17155000-17166800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr21:17155000-17171000	Weak transcription	Dnd41	blood
11	chr21:17155000-17179800	Weak transcription	Spleen	Spleen
12	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr21:17155000-17188600	Weak transcription	HepG2	liver
14	chr21:17155200-17160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:17155200-17160600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:17155200-17160600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:17155200-17160800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:17155200-17160800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr21:17155200-17160800	Weak transcription	Hela-S3	cervix
20	chr21:17155200-17160800	Weak transcription	NHDF-Ad	bronchial
21	chr21:17155200-17161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:17155200-17161000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr21:17155200-17161000	Weak transcription	NHLF	lung
24	chr21:17155200-17161200	Weak transcription	Adipose Nuclei	Adipose
25	chr21:17155200-17161200	Weak transcription	Osteobl	bone
26	chr21:17155200-17162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:17155200-17163600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr21:17155200-17166000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:17155200-17166600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr21:17155200-17167600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr21:17155200-17168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr21:17155200-17168600	Weak transcription	K562	blood
33	chr21:17155200-17169800	Weak transcription	Liver	Liver
34	chr21:17155200-17169800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr21:17155200-17177000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr21:17155200-17177000	Weak transcription	Brain Anterior Caudate	brain
37	chr21:17155200-17177000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr21:17155200-17177000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr21:17155200-17179200	Weak transcription	Fetal Intestine Large	intestine
40	chr21:17155200-17179200	Weak transcription	Left Ventricle	heart
41	chr21:17155200-17181200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr21:17155200-17181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:17155200-17181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr21:17155200-17182200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr21:17155200-17183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr21:17155200-17183200	Weak transcription	Placenta	Placenta
47	chr21:17155200-17184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr21:17155200-17186200	Weak transcription	Fetal Thymus	thymus
49	chr21:17155200-17187200	Weak transcription	Thymus	Thymus
50	chr21:17155200-17187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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