Variant report

Variant	esv3455427
Chromosome Location	chr21:47452524-47457122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:610)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:47453886-47454184	HepG2	liver:	n/a	n/a
2	CHD2	chr21:47453830-47453920	HepG2	liver:	n/a	n/a
3	CTCF	chr21:47453049-47453104	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr21:47453803-47453855	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr21:47453727-47453943	K562	blood:	n/a	n/a
6	EP300	chr21:47453810-47454209	HepG2	liver:	n/a	n/a
7	EP300	chr21:47453817-47454171	HepG2	liver:	n/a	n/a
8	FOXA1	chr21:47453736-47454219	HepG2	liver:	n/a	n/a
9	FOXA1	chr21:47453757-47454231	HepG2	liver:	n/a	n/a
10	FOXA1	chr21:47453704-47454273	HepG2	liver:	n/a	n/a
11	FOXA1	chr21:47453919-47454159	T-47D	breast:	n/a	n/a
12	FOXA1	chr21:47453832-47454208	HepG2	liver:	n/a	n/a
13	FOXA2	chr21:47453911-47454175	HepG2	liver:	n/a	n/a
14	FOXA2	chr21:47453945-47454181	A549	lung:	n/a	n/a
15	GABPA	chr21:47453599-47453923	HepG2	liver:	n/a	n/a
16	GABPA	chr21:47453439-47453991	K562	blood:	n/a	n/a
17	GABPA	chr21:47453598-47453921	HepG2	liver:	n/a	n/a
18	GABPA	chr21:47457096-47457406	H1-hESC	embryonic stem cell:	n/a	n/a
19	GABPA	chr21:47453683-47453992	H1-hESC	embryonic stem cell:	n/a	n/a
20	HDAC2	chr21:47453897-47454230	HepG2	liver:	n/a	chr21:47454040-47454049
21	HEY1	chr21:47453810-47454010	HepG2	liver:	n/a	n/a
22	HNF4A	chr21:47453886-47454219	HepG2	liver:	n/a	chr21:47453985-47453993
23	HNF4G	chr21:47453941-47454212	HepG2	liver:	n/a	chr21:47454111-47454126 chr21:47453985-47453993
24	JUN	chr21:47453760-47453916	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr21:47453947-47454144	HepG2	liver:	n/a	n/a
26	MAFK	chr21:47456890-47456901	HepG2	liver:	n/a	n/a
27	MAFK	chr21:47456832-47457060	IMR90	lung:	n/a	chr21:47456920-47456930 chr21:47456916-47456932 chr21:47456917-47456931 chr21:47456914-47456934
28	MAX	chr21:47453672-47453959	K562	blood:	n/a	n/a
29	MAX	chr21:47453644-47454276	HepG2	liver:	n/a	n/a
30	MAX	chr21:47453739-47454025	HepG2	liver:	n/a	n/a
31	MAZ	chr21:47455541-47457914	IMR90	lung:	n/a	chr21:47456879-47456889
32	MAZ	chr21:47453652-47454262	IMR90	lung:	n/a	n/a
33	MYC	chr21:47453808-47453868	HepG2	liver:	n/a	n/a
34	MYC	chr21:47453751-47453795	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr21:47456117-47456572	IMR90	lung:	n/a	n/a
36	RAD21	chr21:47456184-47456623	IMR90	lung:	n/a	chr21:47456584-47456596 chr21:47456467-47456480 chr21:47456584-47456594
37	RCOR1	chr21:47453930-47454132	HepG2	liver:	n/a	n/a
38	RCOR1	chr21:47453752-47454300	IMR90	lung:	n/a	n/a
39	RCOR1	chr21:47455806-47457109	IMR90	lung:	n/a	n/a
40	REST	chr21:47452984-47453194	U87	brain:	n/a	n/a
41	RXRA	chr21:47453569-47453964	HepG2	liver:	n/a	n/a
42	SP1	chr21:47453794-47454254	HepG2	liver:	n/a	n/a
43	SPI1	chr21:47455546-47455663	K562	blood:	n/a	chr21:47455609-47455622 chr21:47455612-47455621
44	TAF1	chr21:47453667-47453953	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr21:47453550-47454083	H1-hESC	embryonic stem cell:	n/a	n/a
46	TBP	chr21:47453826-47453936	H1-hESC	embryonic stem cell:	n/a	n/a
47	TEAD4	chr21:47453624-47454003	H1-hESC	embryonic stem cell:	n/a	n/a
48	TEAD4	chr21:47453778-47454287	HepG2	liver:	n/a	chr21:47454028-47454037
49	USF1	chr21:47453649-47453893	HepG2	liver:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47453656-47453706	GM19239	blood:	n/a
2	chr21:47456315-47456365	HCM	heart:	n/a
3	chr21:47456404-47456454	SK-N-MC	brain:	n/a
4	chr21:47453889-47453939	HMEC	breast:	n/a
5	chr21:47453520-47453570	HCF	heart:	n/a
6	chr21:47453520-47453570	AoSMC	blood vessel:	n/a
7	chr21:47456446-47456496	HCF	heart:	n/a
8	chr21:47456446-47456496	AG09309	skin:	n/a
9	chr21:47453656-47453706	HMEC	breast:	n/a
10	chr21:47456404-47456454	HRPEpiC	eye:	n/a
11	chr21:47453889-47453939	AoSMC	blood vessel:	n/a
12	chr21:47455453-47455503	NT2-D1	testis:	n/a
13	chr21:47456315-47456365	BE2_C	brain:	n/a
14	chr21:47453889-47453939	NH-A	brain:	n/a
15	chr21:47453656-47453706	LNCaP	prostate:	n/a
16	chr21:47456315-47456365	GM12878	blood:	n/a
17	chr21:47456404-47456454	AG04449	skin:	fetal
18	chr21:47454892-47454942	ovcar-3	ovarian:	n/a
19	chr21:47455453-47455503	PFSK-1	brain:	n/a
20	chr21:47456404-47456454	HepG2	liver:	n/a
21	chr21:47454892-47454942	A549	lung:	n/a
22	chr21:47456315-47456365	HEK293	kidney:	embryo
23	chr21:47456404-47456454	HRCEpiC	kidney:	n/a
24	chr21:47454892-47454942	SK-N-SH_RA	brain:	n/a
25	chr21:47455779-47455829	PFSK-1	brain:	n/a
26	chr21:47455453-47455503	HMEC	breast:	n/a
27	chr21:47453520-47453570	HNPCEpiC	eye:	n/a
28	chr21:47454892-47454942	AG04450	lung:	fetal
29	chr21:47455453-47455503	PANC-1	pancreas:	n/a
30	chr21:47453297-47453347	HL-60	blood:	n/a
31	chr21:47453656-47453706	HepG2	liver:	n/a
32	chr21:47453520-47453570	NH-A	brain:	n/a
33	chr21:47455779-47455829	IMR90	lung:	fetal
34	chr21:47456404-47456454	GM12878	blood:	n/a
35	chr21:47453656-47453706	AG09319	gingival:	n/a
36	chr21:47454892-47454942	HCT-116	colon:	n/a
37	chr21:47453889-47453939	IMR90	lung:	fetal
38	chr21:47453656-47453706	HRCEpiC	kidney:	n/a
39	chr21:47456315-47456365	Caco-2	colon:	n/a
40	chr21:47456404-47456454	CMK	blood:	n/a
41	chr21:47453520-47453570	AG04449	skin:	fetal
42	chr21:47453520-47453570	NB4	blood:	n/a
43	chr21:47453297-47453347	K562	blood:	n/a
44	chr21:47455453-47455503	HAEpiC	amniotic membrane:	n/a
45	chr21:47456446-47456496	PFSK-1	brain:	n/a
46	chr21:47456404-47456454	SK-N-SH	brain:	n/a
47	chr21:47455453-47455503	Hepatocyte	liver:	n/a
48	chr21:47453656-47453706	HRE	kidney:	n/a
49	chr21:47453889-47453939	HCM	heart:	n/a
50	chr21:47453656-47453706	AG04449	skin:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47448813..47450619-chr21:47451876..47453813,2	K562	blood:
2	chr21:47452473..47454142-chr21:47459376..47461918,2	K562	blood:
3	chr21:47452931..47454985-chr21:47457105..47459208,2	K562	blood:
4	chr21:47452931..47454985-chr21:47457105..47459208,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224413	TF binding region
ENSG00000224413	CpG island

Extended variants
information (count: 264 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111853081	chr21:47452556-47452557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75596498	chr21:47452593-47452594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187996716	chr21:47452606-47452607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146252419	chr21:47452607-47452608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114001893	chr21:47452613-47452614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550384951	chr21:47452644-47452645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554298480	chr21:47452645-47452646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139294378	chr21:47452681-47452682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2877120	chr21:47452683-47452684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115165282	chr21:47452690-47452691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57620920	chr21:47452701-47452702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181258291	chr21:47452754-47452755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs873008	chr21:47452785-47452786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553666313	chr21:47452795-47452796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185366268	chr21:47452798-47452799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188462803	chr21:47452847-47452848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557597390	chr21:47452962-47452963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77178431	chr21:47452977-47452978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79288748	chr21:47452979-47452980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74899397	chr21:47452989-47452990	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs76443766	chr21:47452998-47452999	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575288123	chr21:47453013-47453014	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs71324477	chr21:47453015-47453016	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7278123	chr21:47453019-47453020	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572785749	chr21:47453050-47453051	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs78035230	chr21:47453053-47453054	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7277727	chr21:47453103-47453104	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs539858206	chr21:47453180-47453181	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs564812840	chr21:47453339-47453340	Weak transcription Enhancers ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs532280012	chr21:47453361-47453362	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs373308452	chr21:47453409-47453410	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs543964642	chr21:47453439-47453440	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs375705075	chr21:47453486-47453487	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs144093413	chr21:47453489-47453490	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs531011161	chr21:47453547-47453548	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs535753209	chr21:47453573-47453574	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs13047809	chr21:47453580-47453581	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs542344259	chr21:47453584-47453585	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs13051498	chr21:47453597-47453598	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs13050628	chr21:47453602-47453603	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549243099	chr21:47453613-47453614	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs567762353	chr21:47453662-47453663	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs117680106	chr21:47453705-47453706	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs527927010	chr21:47453720-47453721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs545516261	chr21:47453737-47453738	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs75934114	chr21:47453740-47453741	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62211788	chr21:47453771-47453772	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547020195	chr21:47453779-47453780	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs576190876	chr21:47453787-47453788	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs374522091	chr21:47453788-47453789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding 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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47445600-47458600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47448400-47455400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:47449200-47453200	Weak transcription	Fetal Intestine Large	intestine
4	chr21:47449400-47453200	Weak transcription	Ovary	ovary
5	chr21:47449400-47453200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:47449400-47453400	Weak transcription	Fetal Lung	lung
7	chr21:47449400-47455400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:47449400-47458400	Weak transcription	Right Atrium	heart
9	chr21:47449600-47453800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr21:47449600-47455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr21:47451800-47455600	Weak transcription	Left Ventricle	heart
12	chr21:47451800-47458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:47452200-47452600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:47452400-47454000	Enhancers	Placenta	Placenta
15	chr21:47452600-47452800	Enhancers	HepG2	liver
16	chr21:47452600-47453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:47452600-47454200	Enhancers	Fetal Stomach	stomach
18	chr21:47453200-47453400	Enhancers	Ovary	ovary
19	chr21:47453200-47453800	Enhancers	Stomach Smooth Muscle	stomach
20	chr21:47453200-47454000	ZNF genes & repeats	Fetal Intestine Large	intestine
21	chr21:47453200-47454400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:47453400-47454000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:47453400-47454200	Enhancers	Fetal Lung	lung
24	chr21:47453400-47454200	Flanking Active TSS	Ovary	ovary
25	chr21:47453600-47454000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:47453800-47454000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr21:47453800-47454000	Active TSS	HepG2	liver
28	chr21:47453800-47454200	Enhancers	Rectal Smooth Muscle	rectum
29	chr21:47454000-47454200	Active TSS	Stomach Smooth Muscle	stomach
30	chr21:47454000-47454400	Flanking Active TSS	HepG2	liver
31	chr21:47454000-47455400	Weak transcription	Fetal Intestine Large	intestine
32	chr21:47454000-47455400	Weak transcription	Placenta	Placenta
33	chr21:47454000-47455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr21:47454000-47455600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:47454200-47455400	Weak transcription	Fetal Lung	lung
36	chr21:47454200-47455400	Weak transcription	Fetal Stomach	stomach
37	chr21:47454200-47455400	Weak transcription	Ovary	ovary
38	chr21:47454200-47455400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr21:47454200-47455400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr21:47454400-47454600	Enhancers	HepG2	liver
41	chr21:47454400-47455600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:47454600-47455000	Weak transcription	HepG2	liver
43	chr21:47455000-47455400	Enhancers	HepG2	liver
44	chr21:47455400-47455600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:47455400-47455600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:47455400-47455600	Enhancers	Fetal Muscle Trunk	muscle
47	chr21:47455400-47455600	Flanking Active TSS	HepG2	liver
48	chr21:47455400-47456200	Enhancers	Rectal Smooth Muscle	rectum
49	chr21:47455400-47456200	Enhancers	Stomach Smooth Muscle	stomach
50	chr21:47455400-47457000	Enhancers	Fetal Intestine Large	intestine

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