Variant report

Variant	rs552674379
Chromosome Location	chr21:17792137-17792138
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	FOXM1	chr21:17792106-17792992	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr21:17791501-17792212	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr21:17791183-17792147	PFSK-1	brain:	n/a	n/a
4	TCF7L2	chr21:17791685-17792935	HEK293	kidney:	n/a	n/a
5	GTF2F1	chr21:17791486-17792160	Hela-S3	cervix:	n/a	n/a
6	NR3C1	chr21:17791990-17792299	A549	lung:	n/a	chr21:17792166-17792183
7	MXI1	chr21:17791460-17792240	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr21:17791303-17792962	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr21:17791415-17792152	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr21:17791482-17792147	Hela-S3	cervix:	n/a	n/a
11	KAP1	chr21:17791383-17793077	U2OS	brain:	n/a	chr21:17792628-17792636
12	GATA3	chr21:17792134-17792996	MCF-7	breast:	n/a	n/a
13	RCOR1	chr21:17791498-17792161	Hela-S3	cervix:	n/a	n/a
14	KAP1	chr21:17790827-17793051	HEK293	kidney:	n/a	chr21:17792628-17792636
15	MXI1	chr21:17790501-17793068	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr21:17791835-17792155	Hela-S3	cervix:	n/a	n/a
17	TCF7L2	chr21:17791603-17792652	PANC-1	pancreas:	n/a	n/a
18	TCF7L2	chr21:17791452-17792883	Hela-S3	cervix:	n/a	n/a
19	TBP	chr21:17791510-17792189	Hela-S3	cervix:	n/a	n/a
20	NFIC	chr21:17791298-17793047	ECC-1	luminal epithelium:	n/a	chr21:17792591-17792608 chr21:17792591-17792607 chr21:17792592-17792609 chr21:17792593-17792609
21	POLR2A	chr21:17791327-17792791	HUVEC	blood vessel:	n/a	n/a
22	CHD2	chr21:17791479-17792210	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
LINC00478	TF binding region
ENSG00000270139	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:67 , 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	chr21:17791200-17795200	Active TSS	A549	lung
9	chr21:17791200-17797000	Active TSS	Fetal Brain Female	brain
10	chr21:17791400-17792600	Active TSS	Esophagus	oesophagus
11	chr21:17791400-17792800	Active TSS	Brain Substantia Nigra	brain
12	chr21:17791400-17792800	Active TSS	Left Ventricle	heart
13	chr21:17791400-17793000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr21:17791400-17793000	Active TSS	Fetal Muscle Trunk	muscle
15	chr21:17791400-17793000	Active TSS	Ovary	ovary
16	chr21:17791400-17793000	Active TSS	Rectal Smooth Muscle	rectum
17	chr21:17791400-17793400	Active TSS	Brain Angular Gyrus	brain
18	chr21:17791400-17793600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr21:17791400-17793600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr21:17791400-17793800	Active TSS	Brain Cingulate Gyrus	brain
21	chr21:17791400-17795000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:17791400-17795200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr21:17791400-17795400	Active TSS	Brain Hippocampus Middle	brain
24	chr21:17791400-17795600	Active TSS	Brain Germinal Matrix	brain
25	chr21:17791400-17796800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr21:17791400-17797000	Active TSS	Stomach Smooth Muscle	stomach
27	chr21:17791400-17797200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:17791400-17797200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr21:17791600-17792400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr21:17791600-17792600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:17791600-17793000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr21:17791600-17793000	Active TSS	Aorta	Aorta
33	chr21:17791600-17793200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr21:17791600-17793200	Active TSS	Hela-S3	cervix
35	chr21:17791600-17793400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr21:17791600-17793600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:17791600-17794000	Active TSS	Colon Smooth Muscle	Colon
38	chr21:17791600-17794000	Active TSS	Fetal Heart	heart
39	chr21:17791600-17795000	Active TSS	HUVEC	blood vessel
40	chr21:17791600-17795000	Active TSS	NH-A	brain
41	chr21:17791600-17795200	Active TSS	HMEC	breast
42	chr21:17791600-17795400	Active TSS	Fetal Muscle Leg	muscle
43	chr21:17791600-17796200	Active TSS	Liver	Liver
44	chr21:17791600-17796400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr21:17791600-17796600	Active TSS	Fetal Brain Male	brain
46	chr21:17791600-17796800	Active TSS	Fetal Stomach	stomach
47	chr21:17791600-17797200	Active TSS	HSMMtube	muscle
48	chr21:17791800-17792200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:17791800-17792600	Flanking Active TSS	NHEK	skin
50	chr21:17791800-17792800	Active TSS	Fetal Intestine Small	intestine

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