Variant report

Variant	rs57469414
Chromosome Location	chr21:17791320-17791321
allele	C/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	POLR2A	chr21:17791183-17792147	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr21:17791276-17791921	U87	brain:	n/a	n/a
3	POLR2A	chr21:17791303-17792962	HUVEC	blood vessel:	n/a	n/a
4	E2F4	chr21:17791301-17791451	MCF10A-Er-Src	breast:	n/a	n/a
5	RFX5	chr21:17791124-17792045	Hela-S3	cervix:	n/a	n/a
6	ELF1	chr21:17791233-17791845	MCF-7	breast:	n/a	n/a
7	KAP1	chr21:17790827-17793051	HEK293	kidney:	n/a	chr21:17792628-17792636
8	MXI1	chr21:17790501-17793068	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr21:17791295-17791976	HUVEC	blood vessel:	n/a	n/a
10	NFIC	chr21:17791298-17793047	ECC-1	luminal epithelium:	n/a	chr21:17792591-17792608 chr21:17792591-17792607 chr21:17792592-17792609 chr21:17792593-17792609
11	GATA3	chr21:17791300-17792010	MCF-7	breast:	n/a	chr21:17791401-17791422

Variant related genes	Relation type
LINC00478	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1034342	0.84[ASN][1000 genomes]
rs1034343	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17307411	0.81[AFR][1000 genomes]
rs4818266	1.00[AFR][1000 genomes]
rs62216414	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17789600-17791400	Enhancers	Brain Hippocampus Middle	brain
2	chr21:17790000-17791400	Enhancers	Brain Substantia Nigra	brain
3	chr21:17790200-17791400	Enhancers	Liver	Liver
4	chr21:17790400-17791400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:17790400-17791400	Enhancers	HUVEC	blood vessel
6	chr21:17790400-17791600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr21:17790400-17792400	Flanking Active TSS	Osteobl	bone
8	chr21:17790400-17793000	Active TSS	Psoas Muscle	Psoas
9	chr21:17790400-17797000	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr21:17790600-17791400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:17790600-17791400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr21:17790600-17793000	Active TSS	Right Ventricle	heart
13	chr21:17790600-17793200	Active TSS	Right Atrium	heart
14	chr21:17790800-17791400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:17790800-17791400	Enhancers	Brain Cingulate Gyrus	brain
16	chr21:17790800-17791400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:17790800-17791400	Enhancers	Fetal Lung	lung
18	chr21:17790800-17791400	Enhancers	Rectal Smooth Muscle	rectum
19	chr21:17790800-17791400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr21:17790800-17791400	Enhancers	NH-A	brain
21	chr21:17790800-17791600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:17790800-17791600	Enhancers	Colon Smooth Muscle	Colon
23	chr21:17790800-17791600	Flanking Active TSS	HSMMtube	muscle
24	chr21:17790800-17791800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr21:17790800-17793000	Active TSS	NHDF-Ad	bronchial
26	chr21:17791000-17791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr21:17791000-17791400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:17791000-17791400	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr21:17791000-17791400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr21:17791000-17791400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr21:17791000-17791400	Enhancers	Fetal Heart	heart
32	chr21:17791000-17791400	Enhancers	Fetal Kidney	kidney
33	chr21:17791000-17791400	Enhancers	Fetal Muscle Leg	muscle
34	chr21:17791000-17791400	Enhancers	Fetal Stomach	stomach
35	chr21:17791000-17791400	Enhancers	Left Ventricle	heart
36	chr21:17791000-17791400	Enhancers	Ovary	ovary
37	chr21:17791000-17791400	Enhancers	Pancreas	Pancrea
38	chr21:17791000-17791400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr21:17791000-17791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:17791000-17791600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:17791000-17791600	Enhancers	Aorta	Aorta
42	chr21:17791000-17791600	Flanking Active TSS	Hela-S3	cervix
43	chr21:17791000-17791800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr21:17791000-17791800	Enhancers	NHEK	skin
45	chr21:17791000-17793000	Enhancers	Stomach Mucosa	stomach
46	chr21:17791200-17791400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr21:17791200-17791400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:17791200-17791400	Enhancers	Brain Anterior Caudate	brain
49	chr21:17791200-17791400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr21:17791200-17791400	Enhancers	Fetal Brain Male	brain

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