Variant report

Variant	rs75728318
Chromosome Location	chr21:17795287-17795288
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	TEAD4	chr21:17794971-17795513	ECC-1	luminal epithelium:	n/a	n/a
2	TCF7L2	chr21:17795184-17795421	PANC-1	pancreas:	n/a	chr21:17795362-17795372
3	TCF7L2	chr21:17795029-17795412	Hela-S3	cervix:	n/a	chr21:17795362-17795372
4	TCF7L2	chr21:17795180-17795790	HEK293	kidney:	n/a	chr21:17795362-17795372 chr21:17795620-17795636
5	NFIC	chr21:17795038-17795491	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr21:17794868-17795608	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr21:17794875-17795400	Hela-S3	cervix:	n/a	chr21:17794990-17795001 chr21:17794990-17795003

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17793428..17795619-chr21:17796309..17799030,2	MCF-7	breast:
2	chr21:17795082..17798298-chr21:17801061..17804757,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270139	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
11	nsv459101	chr21:17794432-17819036	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv587078	chr21:17794432-17819036	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 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	chr21:17791200-17797000	Active TSS	Fetal Brain Female	brain
3	chr21:17791400-17795400	Active TSS	Brain Hippocampus Middle	brain
4	chr21:17791400-17795600	Active TSS	Brain Germinal Matrix	brain
5	chr21:17791400-17796800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr21:17791400-17797000	Active TSS	Stomach Smooth Muscle	stomach
7	chr21:17791400-17797200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17791400-17797200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr21:17791600-17795400	Active TSS	Fetal Muscle Leg	muscle
10	chr21:17791600-17796200	Active TSS	Liver	Liver
11	chr21:17791600-17796400	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr21:17791600-17796600	Active TSS	Fetal Brain Male	brain
13	chr21:17791600-17796800	Active TSS	Fetal Stomach	stomach
14	chr21:17791600-17797200	Active TSS	HSMMtube	muscle
15	chr21:17791800-17796400	Active TSS	Adipose Nuclei	Adipose
16	chr21:17791800-17797400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:17792200-17795400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:17793000-17796000	Weak transcription	Psoas Muscle	Psoas
19	chr21:17793000-17796200	Weak transcription	Fetal Lung	lung
20	chr21:17793000-17796400	Weak transcription	Brain Substantia Nigra	brain
21	chr21:17793000-17796400	Weak transcription	Ovary	ovary
22	chr21:17793000-17796400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:17793000-17796400	Weak transcription	Right Ventricle	heart
24	chr21:17793000-17796400	Weak transcription	NHLF	lung
25	chr21:17793200-17796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:17793200-17796000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr21:17793200-17796400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr21:17793200-17796400	Weak transcription	NHEK	skin
29	chr21:17793400-17796200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:17793600-17796200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr21:17793800-17796400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr21:17794000-17795400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr21:17794000-17796400	Weak transcription	Colon Smooth Muscle	Colon
34	chr21:17794000-17796600	Weak transcription	Fetal Heart	heart
35	chr21:17794400-17796200	Enhancers	Osteobl	bone
36	chr21:17794400-17796800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:17794400-17797200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:17794400-17797800	Active TSS	Right Atrium	heart
39	chr21:17794600-17796200	Weak transcription	Brain Anterior Caudate	brain
40	chr21:17794800-17795800	Enhancers	HSMM	muscle
41	chr21:17794800-17796000	Enhancers	Hela-S3	cervix
42	chr21:17795000-17795400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:17795000-17795400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr21:17795000-17795400	Enhancers	Fetal Kidney	kidney
45	chr21:17795000-17795400	Flanking Active TSS	NH-A	brain
46	chr21:17795000-17798200	Flanking Active TSS	HUVEC	blood vessel
47	chr21:17795200-17795400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr21:17795200-17795400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr21:17795200-17795400	Enhancers	Stomach Mucosa	stomach
50	chr21:17795200-17796000	Weak transcription	HMEC	breast

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