Variant report

Variant	esv3410971
Chromosome Location	chr21:47476224-47480822
allele	n/a
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	BATF	chr21:47480538-47480950	GM12878	blood:	n/a	n/a
2	CEBPB	chr21:47480507-47481116	IMR90	lung:	n/a	n/a
3	CHD1	chr21:47475585-47477580	IMR90	lung:	n/a	chr21:47476798-47476808
4	CTCF	chr21:47476440-47476590	AG04449	skin:	n/a	n/a
5	CTCF	chr21:47476400-47476550	AG04450	lung:	n/a	n/a
6	CTCF	chr21:47480480-47480630	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr21:47476460-47476610	AG10803	skin:	n/a	n/a
8	CTCF	chr21:47478613-47478667	GM12891	blood:	n/a	n/a
9	CTCF	chr21:47476460-47476610	BJ	skin:	n/a	n/a
10	CTCF	chr21:47476420-47476570	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr21:47476460-47476610	AG04449	skin:	n/a	n/a
12	CTCF	chr21:47476440-47476590	AG10803	skin:	n/a	n/a
13	CTCF	chr21:47480540-47480690	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr21:47476440-47476590	HPAF	blood vessel:	n/a	n/a
15	EBF1	chr21:47480656-47480881	GM12878	blood:	n/a	n/a
16	EBF1	chr21:47476798-47477037	GM12878	blood:	n/a	n/a
17	EBF1	chr21:47477256-47477396	GM12878	blood:	n/a	n/a
18	EBF1	chr21:47477061-47477438	GM12878	blood:	n/a	n/a
19	FOS	chr21:47480601-47480973	MCF10A-Er-Src	breast:	n/a	chr21:47480765-47480774 chr21:47480762-47480773 chr21:47480767-47480774 chr21:47480765-47480775 chr21:47480764-47480775
20	FOS	chr21:47480591-47480973	MCF10A-Er-Src	breast:	n/a	chr21:47480765-47480774 chr21:47480762-47480773 chr21:47480767-47480774 chr21:47480765-47480775 chr21:47480764-47480775
21	FOS	chr21:47480620-47481010	MCF10A-Er-Src	breast:	n/a	chr21:47480765-47480774 chr21:47480762-47480773 chr21:47480767-47480774 chr21:47480765-47480775 chr21:47480764-47480775
22	FOS	chr21:47480614-47481037	MCF10A-Er-Src	breast:	n/a	chr21:47480765-47480774 chr21:47480762-47480773 chr21:47480767-47480774 chr21:47480765-47480775 chr21:47480764-47480775
23	FOSL2	chr21:47480487-47481090	SK-N-SH	brain:	n/a	chr21:47480765-47480774 chr21:47480762-47480773 chr21:47480767-47480774 chr21:47480765-47480775 chr21:47480764-47480775
24	FOSL2	chr21:47480548-47480986	SK-N-SH	brain:	n/a	chr21:47480765-47480774 chr21:47480762-47480773 chr21:47480767-47480774 chr21:47480765-47480775 chr21:47480764-47480775
25	GABPA	chr21:47476433-47476788	H1-hESC	embryonic stem cell:	n/a	n/a
26	GABPA	chr21:47476453-47476732	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr21:47480488-47481152	SK-N-SH	brain:	n/a	chr21:47480765-47480774 chr21:47480762-47480773 chr21:47480767-47480774 chr21:47480765-47480775 chr21:47480764-47480775
28	MAFK	chr21:47480511-47481621	IMR90	lung:	n/a	n/a
29	MAX	chr21:47480499-47481069	A549	lung:	n/a	n/a
30	MAX	chr21:47477152-47477516	NB4	blood:	n/a	n/a
31	MAZ	chr21:47480034-47481728	IMR90	lung:	n/a	n/a
32	MAZ	chr21:47473076-47477426	IMR90	lung:	n/a	chr21:47476879-47476888 chr21:47476873-47476882 chr21:47475174-47475183
33	MTA3	chr21:47477116-47477714	GM12878	blood:	n/a	n/a
34	MYC	chr21:47479333-47479515	MCF-7	breast:	n/a	n/a
35	MYC	chr21:47480677-47480886	MCF10A-Er-Src	breast:	n/a	n/a
36	PAX5	chr21:47480438-47480881	GM12878	blood:	n/a	chr21:47480597-47480606
37	PAX5	chr21:47477029-47477583	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:47475050-47477669	IMR90	lung:	n/a	n/a
39	POLR2A	chr21:47480313-47481517	U87	brain:	n/a	n/a
40	POLR2A	chr21:47476324-47476604	U87	brain:	n/a	n/a
41	POLR2A	chr21:47480313-47481314	U87	brain:	n/a	n/a
42	POLR2A	chr21:47479737-47480068	MCF-7	breast:	n/a	n/a
43	POLR2A	chr21:47479331-47479365	K562	blood:	n/a	n/a
44	POLR2A	chr21:47478610-47478743	MCF-7	breast:	n/a	n/a
45	POLR2A	chr21:47479210-47479215	K562	blood:	n/a	n/a
46	POLR2A	chr21:47479707-47479726	MCF-7	breast:	n/a	n/a
47	POLR2A	chr21:47479292-47479348	MCF-7	breast:	n/a	n/a
48	POLR2A	chr21:47476070-47476883	U87	brain:	n/a	n/a
49	POLR2A	chr21:47480556-47480594	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr21:47476324-47476630	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47477438..47479279-chr21:47515180..47518074,2	K562	blood:
2	chr21:47480527..47483405-chr21:47514946..47517801,2	MCF-7	breast:
3	chr21:47476412..47478192-chr21:47563693..47565789,2	K562	blood:

Variant related genes	Relation type
ENSG00000226115	TF binding region
ENSG00000142173	chromatin interactions
ENSG00000227438	chromatin interactions
ENSG00000160282	chromatin interactions

Extended variants
information (count: 327 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73908138	chr21:47476228-47476229	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549070043	chr21:47476240-47476241	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs882630	chr21:47476248-47476249	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs145583831	chr21:47476250-47476251	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546474267	chr21:47476270-47476271	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs151085047	chr21:47476290-47476291	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565648447	chr21:47476293-47476294	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs530931499	chr21:47476338-47476339	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538824993	chr21:47476339-47476340	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs534573087	chr21:47476345-47476346	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62211831	chr21:47476355-47476356	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2839095	chr21:47476357-47476358	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188444288	chr21:47476389-47476390	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs191984573	chr21:47476390-47476391	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs2839096	chr21:47476403-47476404	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs71324489	chr21:47476452-47476453	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553678831	chr21:47476467-47476468	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs117588311	chr21:47476495-47476496	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545573244	chr21:47476496-47476497	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563689947	chr21:47476531-47476532	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs386819396	chr21:47476533-47476534	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9978330	chr21:47476535-47476536	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs59299042	chr21:47476558-47476559	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528055999	chr21:47476560-47476561	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546237122	chr21:47476572-47476573	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571200206	chr21:47476576-47476577	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532267478	chr21:47476588-47476589	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111662472	chr21:47476605-47476606	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377301239	chr21:47476613-47476614	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79504130	chr21:47476617-47476618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550856532	chr21:47476630-47476631	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140026114	chr21:47476631-47476632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs68114705	chr21:47476638-47476639	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555879649	chr21:47476639-47476640	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567786346	chr21:47476657-47476658	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535012685	chr21:47476690-47476691	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs915808	chr21:47476701-47476702	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs75095196	chr21:47476726-47476727	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564942467	chr21:47476732-47476733	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183356519	chr21:47476736-47476737	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149850302	chr21:47476740-47476741	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544343996	chr21:47476741-47476742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542841903	chr21:47476789-47476790	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560646795	chr21:47476792-47476793	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144895962	chr21:47476804-47476805	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539950605	chr21:47476808-47476809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564681543	chr21:47476817-47476818	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532156953	chr21:47476833-47476834	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149023243	chr21:47476834-47476835	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377026136	chr21:47476838-47476839	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47468200-47477800	Enhancers	NHDF-Ad	bronchial
2	chr21:47468200-47478000	Enhancers	Fetal Muscle Leg	muscle
3	chr21:47470200-47476400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:47470400-47478800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr21:47470800-47476600	Weak transcription	Fetal Thymus	thymus
6	chr21:47471000-47478600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:47472800-47476400	Enhancers	Fetal Muscle Trunk	muscle
8	chr21:47473200-47477200	Enhancers	Fetal Heart	heart
9	chr21:47473600-47477200	Enhancers	NH-A	brain
10	chr21:47474000-47476400	Enhancers	Ovary	ovary
11	chr21:47474200-47477400	Enhancers	Adipose Nuclei	Adipose
12	chr21:47474400-47476400	Enhancers	Esophagus	oesophagus
13	chr21:47474400-47477000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr21:47474400-47477000	Enhancers	Left Ventricle	heart
15	chr21:47474600-47476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:47474600-47477800	Enhancers	Placenta	Placenta
17	chr21:47474600-47480400	Weak transcription	Aorta	Aorta
18	chr21:47475000-47477400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr21:47475000-47477600	Enhancers	Right Ventricle	heart
20	chr21:47475200-47476800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:47475200-47477200	Enhancers	HSMMtube	muscle
22	chr21:47475200-47477400	Enhancers	Fetal Intestine Large	intestine
23	chr21:47475200-47477600	Enhancers	Spleen	Spleen
24	chr21:47475200-47477800	Enhancers	Fetal Lung	lung
25	chr21:47475200-47477800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr21:47475400-47477200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:47475600-47476400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:47475600-47476600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr21:47475600-47477000	Enhancers	HMEC	breast
30	chr21:47475600-47477200	Enhancers	Fetal Intestine Small	intestine
31	chr21:47475600-47477200	Enhancers	Lung	lung
32	chr21:47475600-47477400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr21:47475800-47476400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr21:47475800-47476600	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr21:47475800-47476600	Flanking Active TSS	HSMM	muscle
36	chr21:47475800-47476800	Weak transcription	Stomach Mucosa	stomach
37	chr21:47476000-47476400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr21:47476000-47476400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr21:47476000-47476400	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr21:47476000-47476400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
41	chr21:47476000-47476600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:47476000-47476600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:47476000-47476600	Flanking Active TSS	Osteobl	bone
44	chr21:47476000-47476800	Weak transcription	Right Atrium	heart
45	chr21:47476000-47477000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:47476000-47477400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr21:47476000-47477800	Enhancers	Colonic Mucosa	Colon
48	chr21:47476200-47476400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr21:47476200-47476400	Bivalent Enhancer	NHEK	skin
50	chr21:47476200-47476600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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