Variant report

Variant	rs7281290
Chromosome Location	chr21:17243393-17243394
allele	A/G
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	POLR2A	chr21:17243036-17243653	K562	blood:	n/a	n/a
2	MEF2C	chr21:17243118-17243407	GM12878	blood:	n/a	n/a
3	RUNX3	chr21:17243110-17243527	GM12878	blood:	n/a	n/a
4	MEF2A	chr21:17243132-17243460	GM12878	blood:	n/a	n/a
5	BHLHE40	chr21:17243201-17243448	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17242408..17244045-chr21:17246481..17249085,2	K562	blood:
2	chr21:17236613..17238244-chr21:17242060..17244036,2	MCF-7	breast:

Variant related genes	Relation type
USP25	TF binding region
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16990041	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17307156	0.84[EUR][1000 genomes]
rs58134477	0.89[EUR][1000 genomes]
rs58683309	0.84[EUR][1000 genomes]
rs60174740	0.89[EUR][1000 genomes]
rs9680115	0.84[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:116 , 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	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:17188400-17247200	Weak transcription	Ovary	ovary
6	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
7	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
8	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:17190200-17245400	Weak transcription	Lung	lung
10	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
11	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
12	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:17199800-17246800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:17200800-17245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr21:17201400-17245400	Weak transcription	Fetal Stomach	stomach
18	chr21:17204400-17246400	Weak transcription	Brain Angular Gyrus	brain
19	chr21:17204400-17246800	Weak transcription	Brain Anterior Caudate	brain
20	chr21:17204600-17247800	Weak transcription	HepG2	liver
21	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
22	chr21:17210400-17252600	Weak transcription	Aorta	Aorta
23	chr21:17210600-17245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:17210600-17247200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr21:17211000-17245400	Weak transcription	Fetal Intestine Small	intestine
26	chr21:17211000-17246600	Weak transcription	Colon Smooth Muscle	Colon
27	chr21:17214200-17245400	Weak transcription	Gastric	stomach
28	chr21:17215000-17245200	Weak transcription	Fetal Kidney	kidney
29	chr21:17215000-17245400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:17215200-17245400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr21:17215600-17252200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:17221000-17252800	Weak transcription	Thymus	Thymus
33	chr21:17222000-17246600	Weak transcription	HMEC	breast
34	chr21:17222200-17252600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:17223000-17257200	Weak transcription	NHLF	lung
36	chr21:17223400-17246800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr21:17223600-17246600	Weak transcription	Osteobl	bone
38	chr21:17223600-17264400	Weak transcription	NHEK	skin
39	chr21:17224800-17244200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr21:17225200-17252800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr21:17228200-17245800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr21:17228200-17246800	Weak transcription	NHDF-Ad	bronchial
43	chr21:17228200-17256800	Weak transcription	Small Intestine	intestine
44	chr21:17228400-17252800	Weak transcription	Fetal Heart	heart
45	chr21:17228400-17252800	Weak transcription	Psoas Muscle	Psoas
46	chr21:17230600-17245600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:17230600-17246800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr21:17233400-17256600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr21:17234800-17252800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr21:17235200-17252800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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