Variant report

Variant	rs58524891
Chromosome Location	chr21:17791809-17791810
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr21:17791376-17791840	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr21:17791381-17791821	Hela-S3	cervix:	n/a	n/a
3	USF2	chr21:17791494-17791857	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr21:17791359-17791894	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr21:17791501-17792212	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr21:17791183-17792147	PFSK-1	brain:	n/a	n/a
7	TCF7L2	chr21:17791685-17792935	HEK293	kidney:	n/a	n/a
8	TCF12	chr21:17791389-17791902	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr21:17791349-17791962	U87	brain:	n/a	n/a
10	GATA2	chr21:17791481-17791998	SH-SY5Y	brain:	n/a	n/a
11	GTF2F1	chr21:17791486-17792160	Hela-S3	cervix:	n/a	n/a
12	GATA2	chr21:17791395-17791888	HUVEC	blood vessel:	n/a	chr21:17791401-17791422
13	MXI1	chr21:17791460-17792240	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr21:17791276-17791921	U87	brain:	n/a	n/a
15	REST	chr21:17791484-17791819	PFSK-1	brain:	n/a	n/a
16	BRCA1	chr21:17791560-17792044	Hela-S3	cervix:	n/a	n/a
17	TCF12	chr21:17791341-17791988	A549	lung:	n/a	n/a
18	NFYB	chr21:17791532-17791835	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr21:17791303-17792962	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr21:17791438-17792035	Hela-S3	cervix:	n/a	n/a
21	RFX5	chr21:17791124-17792045	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr21:17791364-17792067	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr21:17791415-17792152	Hela-S3	cervix:	n/a	n/a
24	REST	chr21:17791432-17792010	PFSK-1	brain:	n/a	n/a
25	RAD21	chr21:17791482-17792147	Hela-S3	cervix:	n/a	n/a
26	KAP1	chr21:17791383-17793077	U2OS	brain:	n/a	chr21:17792628-17792636
27	ELF1	chr21:17791233-17791845	MCF-7	breast:	n/a	n/a
28	POLR2A	chr21:17791360-17791946	HUVEC	blood vessel:	n/a	n/a
29	RCOR1	chr21:17791498-17792161	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr21:17791328-17791975	ECC-1	luminal epithelium:	n/a	n/a
31	NFIC	chr21:17791389-17792024	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr21:17791448-17792126	MCF-7	breast:	n/a	n/a
33	KAP1	chr21:17790827-17793051	HEK293	kidney:	n/a	chr21:17792628-17792636
34	MXI1	chr21:17790501-17793068	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr21:17791453-17792048	U87	brain:	n/a	n/a
36	NFYA	chr21:17791445-17791984	Hela-S3	cervix:	n/a	n/a
37	FOXA2	chr21:17791458-17791829	A549	lung:	n/a	n/a
38	POLR2A	chr21:17791295-17791976	HUVEC	blood vessel:	n/a	n/a
39	TCF7L2	chr21:17791603-17792652	PANC-1	pancreas:	n/a	n/a
40	MAX	chr21:17791410-17791834	ECC-1	luminal epithelium:	n/a	n/a
41	TCF7L2	chr21:17791452-17792883	Hela-S3	cervix:	n/a	n/a
42	TBP	chr21:17791510-17792189	Hela-S3	cervix:	n/a	n/a
43	NFIC	chr21:17791298-17793047	ECC-1	luminal epithelium:	n/a	chr21:17792591-17792608 chr21:17792591-17792607 chr21:17792592-17792609 chr21:17792593-17792609
44	GATA3	chr21:17791300-17792010	MCF-7	breast:	n/a	chr21:17791401-17791422
45	EP300	chr21:17791466-17791843	SK-N-SH_RA	brain:	n/a	chr21:17791596-17791606
46	POLR2A	chr21:17791327-17792791	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr21:17791342-17792082	PFSK-1	brain:	n/a	n/a
48	CHD2	chr21:17791479-17792210	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP25-2	chr21:17791752-17792061	ENSG00000215386
2	lnc-USP25-2	chr21:17791593-17792061	XLOC_013868
3	lnc-USP25-2	chr21:17791716-17792061	NONHSAT081235
4	lnc-USP25-2	chr21:17791648-17792061	ENSG00000215386.6
5	lnc-USP25-2	chr21:17791722-17792061	ENSG00000215386.6

No data

Variant related genes	Relation type
ENSG00000270139	TF binding region
LINC00478	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv913419	chr21:17775056-17826260	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv470880	chr21:17777827-17820111	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv459100	chr21:17777966-17826260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv587077	chr21:17777966-17826260	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv913420	chr21:17777966-17826260	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv913421	chr21:17786219-17826260	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv913422	chr21:17791751-17826260	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17790400-17792400	Flanking Active TSS	Osteobl	bone
2	chr21:17790400-17793000	Active TSS	Psoas Muscle	Psoas
3	chr21:17790400-17797000	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr21:17790600-17793000	Active TSS	Right Ventricle	heart
5	chr21:17790600-17793200	Active TSS	Right Atrium	heart
6	chr21:17790800-17793000	Active TSS	NHDF-Ad	bronchial
7	chr21:17791000-17793000	Enhancers	Stomach Mucosa	stomach
8	chr21:17791200-17792000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:17791200-17795200	Active TSS	A549	lung
10	chr21:17791200-17797000	Active TSS	Fetal Brain Female	brain
11	chr21:17791400-17792600	Active TSS	Esophagus	oesophagus
12	chr21:17791400-17792800	Active TSS	Brain Substantia Nigra	brain
13	chr21:17791400-17792800	Active TSS	Left Ventricle	heart
14	chr21:17791400-17793000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr21:17791400-17793000	Active TSS	Fetal Muscle Trunk	muscle
16	chr21:17791400-17793000	Active TSS	Ovary	ovary
17	chr21:17791400-17793000	Active TSS	Rectal Smooth Muscle	rectum
18	chr21:17791400-17793400	Active TSS	Brain Angular Gyrus	brain
19	chr21:17791400-17793600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr21:17791400-17793600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr21:17791400-17793800	Active TSS	Brain Cingulate Gyrus	brain
22	chr21:17791400-17795000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:17791400-17795200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr21:17791400-17795400	Active TSS	Brain Hippocampus Middle	brain
25	chr21:17791400-17795600	Active TSS	Brain Germinal Matrix	brain
26	chr21:17791400-17796800	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr21:17791400-17797000	Active TSS	Stomach Smooth Muscle	stomach
28	chr21:17791400-17797200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:17791400-17797200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr21:17791600-17792000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:17791600-17792000	Active TSS	Fetal Kidney	kidney
32	chr21:17791600-17792400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr21:17791600-17792600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:17791600-17793000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:17791600-17793000	Active TSS	Aorta	Aorta
36	chr21:17791600-17793200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr21:17791600-17793200	Active TSS	Hela-S3	cervix
38	chr21:17791600-17793400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr21:17791600-17793600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:17791600-17794000	Active TSS	Colon Smooth Muscle	Colon
41	chr21:17791600-17794000	Active TSS	Fetal Heart	heart
42	chr21:17791600-17795000	Active TSS	HUVEC	blood vessel
43	chr21:17791600-17795000	Active TSS	NH-A	brain
44	chr21:17791600-17795200	Active TSS	HMEC	breast
45	chr21:17791600-17795400	Active TSS	Fetal Muscle Leg	muscle
46	chr21:17791600-17796200	Active TSS	Liver	Liver
47	chr21:17791600-17796400	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr21:17791600-17796600	Active TSS	Fetal Brain Male	brain
49	chr21:17791600-17796800	Active TSS	Fetal Stomach	stomach
50	chr21:17791600-17797200	Active TSS	HSMMtube	muscle

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