Variant report

Variant	rs55804442
Chromosome Location	chr21:17155842-17155843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17104010..17105531-chr21:17155055..17156862,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11909953	0.86[ASN][1000 genomes]
rs13347185	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17241402	0.93[ASN][1000 genomes]
rs17307156	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1986788	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2183553	0.86[ASN][1000 genomes]
rs2823464	0.88[ASN][1000 genomes]
rs2823467	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823473	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823477	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823479	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823480	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823487	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823488	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28484960	0.88[ASN][1000 genomes]
rs28553297	0.88[ASN][1000 genomes]
rs28730511	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58134477	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58683309	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60174740	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517612	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7277813	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73348818	0.82[ASN][1000 genomes]
rs73892561	0.82[ASN][1000 genomes]
rs8130607	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8132755	0.88[ASN][1000 genomes]
rs926612	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9305754	0.85[ASN][1000 genomes]
rs9680115	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9975374	0.82[ASN][1000 genomes]
rs9977019	0.82[ASN][1000 genomes]
rs9980591	0.82[ASN][1000 genomes]
rs9982630	0.82[ASN][1000 genomes]
rs9984651	0.81[ASN][1000 genomes]
rs9985029	0.82[ASN][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17130800-17156800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:17145800-17156400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:17145800-17166600	Weak transcription	Psoas Muscle	Psoas
4	chr21:17148000-17160200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:17151600-17160600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr21:17151800-17191000	Weak transcription	NH-A	brain
7	chr21:17152200-17156400	Weak transcription	Brain Substantia Nigra	brain
8	chr21:17153200-17156200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:17154400-17156400	Weak transcription	Brain Angular Gyrus	brain
10	chr21:17154600-17156400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:17154800-17156000	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr21:17154800-17156000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:17154800-17156400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr21:17154800-17159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr21:17154800-17161000	Weak transcription	Stomach Mucosa	stomach
16	chr21:17155000-17156600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:17155000-17156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:17155000-17156800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:17155000-17156800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr21:17155000-17158800	Weak transcription	Colonic Mucosa	Colon
21	chr21:17155000-17160400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:17155000-17161200	Weak transcription	Gastric	stomach
23	chr21:17155000-17161200	Weak transcription	HMEC	breast
24	chr21:17155000-17165200	Weak transcription	Brain Hippocampus Middle	brain
25	chr21:17155000-17166600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr21:17155000-17166800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr21:17155000-17171000	Weak transcription	Dnd41	blood
28	chr21:17155000-17179800	Weak transcription	Spleen	Spleen
29	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr21:17155000-17188600	Weak transcription	HepG2	liver
31	chr21:17155200-17156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:17155200-17156200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr21:17155200-17156200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr21:17155200-17156400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:17155200-17156600	Weak transcription	Esophagus	oesophagus
36	chr21:17155200-17157000	Weak transcription	Lung	lung
37	chr21:17155200-17158000	Weak transcription	Ovary	ovary
38	chr21:17155200-17158000	Weak transcription	Pancreas	Pancrea
39	chr21:17155200-17159400	Weak transcription	HUVEC	blood vessel
40	chr21:17155200-17160400	Weak transcription	Aorta	Aorta
41	chr21:17155200-17160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:17155200-17160600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:17155200-17160600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:17155200-17160800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr21:17155200-17160800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr21:17155200-17160800	Weak transcription	Hela-S3	cervix
47	chr21:17155200-17160800	Weak transcription	NHDF-Ad	bronchial
48	chr21:17155200-17161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr21:17155200-17161000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr21:17155200-17161000	Weak transcription	NHLF	lung

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