Variant report

Variant	rs117716045
Chromosome Location	chr21:17792567-17792568
allele	A/G/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	FOXM1	chr21:17792106-17792992	ECC-1	luminal epithelium:	n/a	n/a
2	SIN3AK20	chr21:17792410-17792928	PFSK-1	brain:	n/a	n/a
3	FOXA1	chr21:17792490-17792709	HepG2	liver:	n/a	n/a
4	EP300	chr21:17792345-17792885	ECC-1	luminal epithelium:	n/a	n/a
5	FOXA1	chr21:17792466-17792727	HepG2	liver:	n/a	n/a
6	GTF3C2	chr21:17792318-17792795	Hela-S3	cervix:	n/a	n/a
7	MAX	chr21:17792348-17792828	ECC-1	luminal epithelium:	n/a	n/a
8	SIN3AK20	chr21:17792392-17792697	PFSK-1	brain:	n/a	n/a
9	TAF1	chr21:17792439-17792851	PFSK-1	brain:	n/a	n/a
10	TCF7L2	chr21:17791685-17792935	HEK293	kidney:	n/a	n/a
11	FOXA2	chr21:17792511-17792740	HepG2	liver:	n/a	n/a
12	EP300	chr21:17792230-17793023	ECC-1	luminal epithelium:	n/a	n/a
13	GTF2F1	chr21:17792388-17792772	Hela-S3	cervix:	n/a	n/a
14	ESR1	chr21:17792349-17792958	ECC-1	luminal epithelium:	n/a	chr21:17792723-17792740
15	POLR2A	chr21:17792541-17792861	MCF-7	breast:	n/a	n/a
16	FOXA1	chr21:17792433-17792758	HepG2	liver:	n/a	n/a
17	POLR2A	chr21:17792444-17792764	PFSK-1	brain:	n/a	n/a
18	JUND	chr21:17792383-17792768	MCF-7	breast:	n/a	chr21:17792744-17792756
19	CEBPB	chr21:17792367-17792742	ECC-1	luminal epithelium:	n/a	chr21:17792377-17792386
20	RAD21	chr21:17792377-17792800	ECC-1	luminal epithelium:	n/a	n/a
21	CEBPB	chr21:17792425-17792909	Hela-S3	cervix:	n/a	n/a
22	FOXA2	chr21:17792483-17792736	A549	lung:	n/a	n/a
23	FOXA1	chr21:17792438-17792848	ECC-1	luminal epithelium:	n/a	n/a
24	ESR1	chr21:17792414-17792864	ECC-1	luminal epithelium:	n/a	chr21:17792723-17792740
25	TCF12	chr21:17792244-17792948	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr21:17791303-17792962	HUVEC	blood vessel:	n/a	n/a
27	RFX5	chr21:17792421-17793002	Hela-S3	cervix:	n/a	n/a
28	YY1	chr21:17792432-17792778	ECC-1	luminal epithelium:	n/a	n/a
29	ZNF217	chr21:17792445-17792878	MCF-7	breast:	n/a	n/a
30	EP300	chr21:17792320-17792861	Hela-S3	cervix:	n/a	n/a
31	KAP1	chr21:17791383-17793077	U2OS	brain:	n/a	chr21:17792628-17792636
32	TEAD4	chr21:17792259-17792932	ECC-1	luminal epithelium:	n/a	n/a
33	FOXA1	chr21:17792452-17792695	HepG2	liver:	n/a	n/a
34	NFIC	chr21:17792225-17793051	ECC-1	luminal epithelium:	n/a	chr21:17792591-17792608 chr21:17792591-17792607 chr21:17792592-17792609 chr21:17792593-17792609
35	GATA3	chr21:17792134-17792996	MCF-7	breast:	n/a	n/a
36	FOXA1	chr21:17792445-17792710	T-47D	breast:	n/a	n/a
37	GATA3	chr21:17792454-17792741	T-47D	breast:	n/a	n/a
38	ESR1	chr21:17792410-17792831	ECC-1	luminal epithelium:	n/a	chr21:17792723-17792740
39	KAP1	chr21:17790827-17793051	HEK293	kidney:	n/a	chr21:17792628-17792636
40	MXI1	chr21:17790501-17793068	SK-N-SH	brain:	n/a	n/a
41	MAFK	chr21:17792447-17793055	Hela-S3	cervix:	n/a	chr21:17792856-17792872 chr21:17792855-17792869
42	TCF7L2	chr21:17791603-17792652	PANC-1	pancreas:	n/a	n/a
43	REST	chr21:17792416-17792639	PFSK-1	brain:	n/a	n/a
44	TEAD4	chr21:17792308-17792845	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr21:17792434-17792729	Hela-S3	cervix:	n/a	n/a
46	FOXA1	chr21:17792406-17792815	T-47D	breast:	n/a	n/a
47	EP300	chr21:17792447-17792711	SK-N-SH_RA	brain:	n/a	n/a
48	RAD21	chr21:17792494-17792699	SK-N-SH_RA	brain:	n/a	n/a
49	FOXA2	chr21:17792328-17792750	A549	lung:	n/a	n/a
50	TCF7L2	chr21:17791452-17792883	Hela-S3	cervix:	n/a	n/a

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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17790400-17793000	Active TSS	Psoas Muscle	Psoas
2	chr21:17790400-17797000	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr21:17790600-17793000	Active TSS	Right Ventricle	heart
4	chr21:17790600-17793200	Active TSS	Right Atrium	heart
5	chr21:17790800-17793000	Active TSS	NHDF-Ad	bronchial
6	chr21:17791000-17793000	Enhancers	Stomach Mucosa	stomach
7	chr21:17791200-17795200	Active TSS	A549	lung
8	chr21:17791200-17797000	Active TSS	Fetal Brain Female	brain
9	chr21:17791400-17792600	Active TSS	Esophagus	oesophagus
10	chr21:17791400-17792800	Active TSS	Brain Substantia Nigra	brain
11	chr21:17791400-17792800	Active TSS	Left Ventricle	heart
12	chr21:17791400-17793000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr21:17791400-17793000	Active TSS	Fetal Muscle Trunk	muscle
14	chr21:17791400-17793000	Active TSS	Ovary	ovary
15	chr21:17791400-17793000	Active TSS	Rectal Smooth Muscle	rectum
16	chr21:17791400-17793400	Active TSS	Brain Angular Gyrus	brain
17	chr21:17791400-17793600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:17791400-17793600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr21:17791400-17793800	Active TSS	Brain Cingulate Gyrus	brain
20	chr21:17791400-17795000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:17791400-17795200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr21:17791400-17795400	Active TSS	Brain Hippocampus Middle	brain
23	chr21:17791400-17795600	Active TSS	Brain Germinal Matrix	brain
24	chr21:17791400-17796800	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr21:17791400-17797000	Active TSS	Stomach Smooth Muscle	stomach
26	chr21:17791400-17797200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:17791400-17797200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr21:17791600-17792600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:17791600-17793000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:17791600-17793000	Active TSS	Aorta	Aorta
31	chr21:17791600-17793200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr21:17791600-17793200	Active TSS	Hela-S3	cervix
33	chr21:17791600-17793400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr21:17791600-17793600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:17791600-17794000	Active TSS	Colon Smooth Muscle	Colon
36	chr21:17791600-17794000	Active TSS	Fetal Heart	heart
37	chr21:17791600-17795000	Active TSS	HUVEC	blood vessel
38	chr21:17791600-17795000	Active TSS	NH-A	brain
39	chr21:17791600-17795200	Active TSS	HMEC	breast
40	chr21:17791600-17795400	Active TSS	Fetal Muscle Leg	muscle
41	chr21:17791600-17796200	Active TSS	Liver	Liver
42	chr21:17791600-17796400	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr21:17791600-17796600	Active TSS	Fetal Brain Male	brain
44	chr21:17791600-17796800	Active TSS	Fetal Stomach	stomach
45	chr21:17791600-17797200	Active TSS	HSMMtube	muscle
46	chr21:17791800-17792600	Flanking Active TSS	NHEK	skin
47	chr21:17791800-17792800	Active TSS	Fetal Intestine Small	intestine
48	chr21:17791800-17793000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:17791800-17793000	Enhancers	HepG2	liver
50	chr21:17791800-17793000	Active TSS	HSMM	muscle

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