Variant report

Variant	rs2252133
Chromosome Location	chr21:17247018-17247019
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr21:17247007-17247207	K562	blood:	n/a	chr21:17247021-17247033
2	CEBPB	chr21:17246957-17247207	Hela-S3	cervix:	n/a	n/a
3	MEF2A	chr21:17246877-17247250	K562	blood:	n/a	chr21:17247067-17247078 chr21:17247060-17247081 chr21:17247060-17247081 chr21:17247064-17247079 chr21:17247065-17247079 chr21:17247060-17247081
4	CEBPB	chr21:17246965-17247204	A549	lung:	n/a	n/a
5	CEBPB	chr21:17246948-17247274	IMR90	lung:	n/a	n/a
6	CEBPB	chr21:17246954-17247246	HepG2	liver:	n/a	n/a
7	CEBPB	chr21:17246876-17247219	K562	blood:	n/a	n/a

Variant related genes	Relation type
USP25	TF binding region

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

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

rs_ID	r²[population]
rs2248859	0.98[ASN][1000 genomes]
rs2823502	0.98[EUR][1000 genomes]
rs2823503	0.98[EUR][1000 genomes]
rs2823507	0.94[EUR][1000 genomes]
rs2823509	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823513	0.98[ASN][1000 genomes]
rs2823516	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823518	0.83[ASN][1000 genomes]
rs28469763	0.86[EUR][1000 genomes]
rs28679848	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs409901	0.92[ASN][1000 genomes]
rs412155	0.94[ASN][1000 genomes]
rs412843	0.92[ASN][1000 genomes]
rs444158	0.92[ASN][1000 genomes]
rs7283467	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8127734	0.90[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
2	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
3	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:17188400-17247200	Weak transcription	Ovary	ovary
5	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
6	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
8	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
9	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:17204600-17247800	Weak transcription	HepG2	liver
13	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
14	chr21:17210400-17252600	Weak transcription	Aorta	Aorta
15	chr21:17210600-17247200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr21:17215600-17252200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:17221000-17252800	Weak transcription	Thymus	Thymus
18	chr21:17222200-17252600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:17223000-17257200	Weak transcription	NHLF	lung
20	chr21:17223600-17264400	Weak transcription	NHEK	skin
21	chr21:17225200-17252800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:17228200-17256800	Weak transcription	Small Intestine	intestine
23	chr21:17228400-17252800	Weak transcription	Fetal Heart	heart
24	chr21:17228400-17252800	Weak transcription	Psoas Muscle	Psoas
25	chr21:17233400-17256600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:17234800-17252800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr21:17235200-17252800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr21:17235200-17255600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr21:17235800-17252200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr21:17235800-17252800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr21:17236400-17251200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr21:17236400-17253800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr21:17236600-17254600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr21:17237000-17254400	Strong transcription	Placenta	Placenta
35	chr21:17237600-17252000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:17237800-17252800	Strong transcription	Adipose Nuclei	Adipose
37	chr21:17237800-17252800	Strong transcription	Liver	Liver
38	chr21:17239800-17252800	Weak transcription	Brain Substantia Nigra	brain
39	chr21:17240600-17252800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr21:17241400-17247200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr21:17241400-17247400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr21:17241400-17250600	Weak transcription	K562	blood
43	chr21:17241600-17248000	Weak transcription	HSMMtube	muscle
44	chr21:17242000-17247200	Weak transcription	Fetal Muscle Leg	muscle
45	chr21:17242000-17247400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr21:17242200-17252000	Strong transcription	Dnd41	blood
47	chr21:17243000-17251400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr21:17244400-17252800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr21:17244600-17252200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr21:17245200-17248400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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