Variant report

Variant	rs548555638
Chromosome Location	chr21:17793036-17793037
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	STAT3	chr21:17793020-17793045	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr21:17791383-17793077	U2OS	brain:	n/a	chr21:17792628-17792636
3	NFIC	chr21:17792225-17793051	ECC-1	luminal epithelium:	n/a	chr21:17792591-17792608 chr21:17792591-17792607 chr21:17792592-17792609 chr21:17792593-17792609
4	KAP1	chr21:17790827-17793051	HEK293	kidney:	n/a	chr21:17792628-17792636
5	MXI1	chr21:17790501-17793068	SK-N-SH	brain:	n/a	n/a
6	MAFK	chr21:17792447-17793055	Hela-S3	cervix:	n/a	chr21:17792856-17792872 chr21:17792855-17792869
7	NFIC	chr21:17791298-17793047	ECC-1	luminal epithelium:	n/a	chr21:17792591-17792608 chr21:17792591-17792607 chr21:17792592-17792609 chr21:17792593-17792609

Variant related genes	Relation type
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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17790400-17797000	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr21:17790600-17793200	Active TSS	Right Atrium	heart
3	chr21:17791200-17795200	Active TSS	A549	lung
4	chr21:17791200-17797000	Active TSS	Fetal Brain Female	brain
5	chr21:17791400-17793400	Active TSS	Brain Angular Gyrus	brain
6	chr21:17791400-17793600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:17791400-17793600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr21:17791400-17793800	Active TSS	Brain Cingulate Gyrus	brain
9	chr21:17791400-17795000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:17791400-17795200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr21:17791400-17795400	Active TSS	Brain Hippocampus Middle	brain
12	chr21:17791400-17795600	Active TSS	Brain Germinal Matrix	brain
13	chr21:17791400-17796800	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr21:17791400-17797000	Active TSS	Stomach Smooth Muscle	stomach
15	chr21:17791400-17797200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:17791400-17797200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr21:17791600-17793200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr21:17791600-17793200	Active TSS	Hela-S3	cervix
19	chr21:17791600-17793400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr21:17791600-17793600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:17791600-17794000	Active TSS	Colon Smooth Muscle	Colon
22	chr21:17791600-17794000	Active TSS	Fetal Heart	heart
23	chr21:17791600-17795000	Active TSS	HUVEC	blood vessel
24	chr21:17791600-17795000	Active TSS	NH-A	brain
25	chr21:17791600-17795200	Active TSS	HMEC	breast
26	chr21:17791600-17795400	Active TSS	Fetal Muscle Leg	muscle
27	chr21:17791600-17796200	Active TSS	Liver	Liver
28	chr21:17791600-17796400	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr21:17791600-17796600	Active TSS	Fetal Brain Male	brain
30	chr21:17791600-17796800	Active TSS	Fetal Stomach	stomach
31	chr21:17791600-17797200	Active TSS	HSMMtube	muscle
32	chr21:17791800-17793200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:17791800-17793600	Active TSS	Brain Anterior Caudate	brain
34	chr21:17791800-17796400	Active TSS	Adipose Nuclei	Adipose
35	chr21:17791800-17797400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:17792000-17794000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr21:17792200-17795400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:17792400-17793400	Active TSS	Osteobl	bone
39	chr21:17792400-17793600	Active TSS	Fetal Kidney	kidney
40	chr21:17793000-17793200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:17793000-17793200	Active TSS	NHEK	skin
42	chr21:17793000-17793400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr21:17793000-17793800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr21:17793000-17794800	Weak transcription	HSMM	muscle
45	chr21:17793000-17795000	Weak transcription	Stomach Mucosa	stomach
46	chr21:17793000-17796000	Weak transcription	Psoas Muscle	Psoas
47	chr21:17793000-17796200	Weak transcription	Fetal Lung	lung
48	chr21:17793000-17796400	Weak transcription	Brain Substantia Nigra	brain
49	chr21:17793000-17796400	Weak transcription	Ovary	ovary
50	chr21:17793000-17796400	Weak transcription	Rectal Smooth Muscle	rectum

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