Variant report

Variant	esv3504917
Chromosome Location	chr21:47453574-47456172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:305)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 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	chr21:47453803-47453855	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr21:47453727-47453943	K562	blood:	n/a	n/a
5	EP300	chr21:47453810-47454209	HepG2	liver:	n/a	n/a
6	EP300	chr21:47453817-47454171	HepG2	liver:	n/a	n/a
7	FOXA1	chr21:47453757-47454231	HepG2	liver:	n/a	n/a
8	FOXA1	chr21:47453736-47454219	HepG2	liver:	n/a	n/a
9	FOXA1	chr21:47453704-47454273	HepG2	liver:	n/a	n/a
10	FOXA1	chr21:47453832-47454208	HepG2	liver:	n/a	n/a
11	FOXA1	chr21:47453919-47454159	T-47D	breast:	n/a	n/a
12	FOXA2	chr21:47453945-47454181	A549	lung:	n/a	n/a
13	FOXA2	chr21:47453911-47454175	HepG2	liver:	n/a	n/a
14	GABPA	chr21:47453439-47453991	K562	blood:	n/a	n/a
15	GABPA	chr21:47453683-47453992	H1-hESC	embryonic stem cell:	n/a	n/a
16	GABPA	chr21:47453599-47453923	HepG2	liver:	n/a	n/a
17	GABPA	chr21:47453598-47453921	HepG2	liver:	n/a	n/a
18	HDAC2	chr21:47453897-47454230	HepG2	liver:	n/a	chr21:47454040-47454049
19	HEY1	chr21:47453810-47454010	HepG2	liver:	n/a	n/a
20	HNF4A	chr21:47453886-47454219	HepG2	liver:	n/a	chr21:47453985-47453993
21	HNF4G	chr21:47453941-47454212	HepG2	liver:	n/a	chr21:47454111-47454126 chr21:47453985-47453993
22	JUN	chr21:47453760-47453916	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr21:47453947-47454144	HepG2	liver:	n/a	n/a
24	MAX	chr21:47453672-47453959	K562	blood:	n/a	n/a
25	MAX	chr21:47453644-47454276	HepG2	liver:	n/a	n/a
26	MAX	chr21:47453739-47454025	HepG2	liver:	n/a	n/a
27	MAZ	chr21:47455541-47457914	IMR90	lung:	n/a	chr21:47456879-47456889
28	MAZ	chr21:47453652-47454262	IMR90	lung:	n/a	n/a
29	MYC	chr21:47453751-47453795	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr21:47453808-47453868	HepG2	liver:	n/a	n/a
31	POLR2A	chr21:47456117-47456572	IMR90	lung:	n/a	n/a
32	RCOR1	chr21:47455806-47457109	IMR90	lung:	n/a	n/a
33	RCOR1	chr21:47453930-47454132	HepG2	liver:	n/a	n/a
34	RCOR1	chr21:47453752-47454300	IMR90	lung:	n/a	n/a
35	RXRA	chr21:47453569-47453964	HepG2	liver:	n/a	n/a
36	SP1	chr21:47453794-47454254	HepG2	liver:	n/a	n/a
37	SPI1	chr21:47455546-47455663	K562	blood:	n/a	chr21:47455609-47455622 chr21:47455612-47455621
38	TAF1	chr21:47453667-47453953	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr21:47453550-47454083	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBP	chr21:47453826-47453936	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr21:47453778-47454287	HepG2	liver:	n/a	chr21:47454028-47454037
42	TEAD4	chr21:47453624-47454003	H1-hESC	embryonic stem cell:	n/a	n/a
43	USF1	chr21:47453649-47453893	HepG2	liver:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47453889-47453939	GM12878	blood:	n/a
2	chr21:47453656-47453706	NB4	blood:	n/a
3	chr21:47453656-47453706	PFSK-1	brain:	n/a
4	chr21:47453889-47453939	Caco-2	colon:	n/a
5	chr21:47455453-47455503	HEEpiC	esophagus:	n/a
6	chr21:47455453-47455503	SK-N-SH_RA	brain:	n/a
7	chr21:47455453-47455503	HNPCEpiC	eye:	n/a
8	chr21:47455453-47455503	NHDF-neo	bronchial:	n/a
9	chr21:47455453-47455503	NT2-D1	testis:	n/a
10	chr21:47453656-47453706	HPAEpiC	pulmonary alveolar:	n/a
11	chr21:47454892-47454942	PANC-1	pancreas:	n/a
12	chr21:47455453-47455503	PANC-1	pancreas:	n/a
13	chr21:47455453-47455503	CMK	blood:	n/a
14	chr21:47453889-47453939	HAEpiC	amniotic membrane:	n/a
15	chr21:47453656-47453706	HRE	kidney:	n/a
16	chr21:47453889-47453939	ECC-1	luminal epithelium:	n/a
17	chr21:47454892-47454942	HRE	kidney:	n/a
18	chr21:47453889-47453939	HEEpiC	esophagus:	n/a
19	chr21:47453656-47453706	Jurkat	blood:	n/a
20	chr21:47453889-47453939	SKMC	muscle:	n/a
21	chr21:47455453-47455503	AG10803	skin:	n/a
22	chr21:47453656-47453706	HL-60	blood:	n/a
23	chr21:47455453-47455503	HAEpiC	amniotic membrane:	n/a
24	chr21:47455453-47455503	HEK293	kidney:	embryo
25	chr21:47453656-47453706	Hela-S3	cervix:	n/a
26	chr21:47453889-47453939	HMEC	breast:	n/a
27	chr21:47453889-47453939	H1-hESC	embryonic stem cell:	embryo
28	chr21:47453656-47453706	ProgFib	skin:	n/a
29	chr21:47453889-47453939	HRPEpiC	eye:	n/a
30	chr21:47455453-47455503	Caco-2	colon:	n/a
31	chr21:47453889-47453939	PFSK-1	brain:	n/a
32	chr21:47455779-47455829	AoSMC	blood vessel:	n/a
33	chr21:47454892-47454942	IMR90	lung:	fetal
34	chr21:47453656-47453706	GM06990	blood:	n/a
35	chr21:47453656-47453706	AG10803	skin:	n/a
36	chr21:47454892-47454942	ProgFib	skin:	n/a
37	chr21:47454892-47454942	HAEpiC	amniotic membrane:	n/a
38	chr21:47453656-47453706	HUVEC	blood vessel:	n/a
39	chr21:47454892-47454942	HL-60	blood:	n/a
40	chr21:47453889-47453939	HL-60	blood:	n/a
41	chr21:47454892-47454942	AG04450	lung:	fetal
42	chr21:47453656-47453706	NH-A	brain:	n/a
43	chr21:47455779-47455829	HEK293	kidney:	embryo
44	chr21:47455453-47455503	GM12891	blood:	n/a
45	chr21:47455779-47455829	NHDF-neo	bronchial:	n/a
46	chr21:47455453-47455503	HUVEC	blood vessel:	n/a
47	chr21:47454892-47454942	HCPEpiC	choroid plexus:	n/a
48	chr21:47453656-47453706	GM12878	blood:	n/a
49	chr21:47453656-47453706	HCPEpiC	choroid plexus:	n/a
50	chr21:47455779-47455829	T-47D	breast:	n/a

(count:3 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 173 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13047809	chr21:47453580-47453581	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542344259	chr21:47453584-47453585	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs13051498	chr21:47453597-47453598	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs13050628	chr21:47453602-47453603	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549243099	chr21:47453613-47453614	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	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
7	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
8	rs527927010	chr21:47453720-47453721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs545516261	chr21:47453737-47453738	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75934114	chr21:47453740-47453741	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62211788	chr21:47453771-47453772	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547020195	chr21:47453779-47453780	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs576190876	chr21:47453787-47453788	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374522091	chr21:47453788-47453789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs571928545	chr21:47453796-47453797	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs62211789	chr21:47453804-47453805	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192504758	chr21:47453837-47453838	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs56211497	chr21:47453839-47453840	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs539379591	chr21:47453882-47453883	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557585079	chr21:47453884-47453885	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs569380254	chr21:47453903-47453904	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs2839086	chr21:47453954-47453955	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs554334714	chr21:47454016-47454017	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs183669932	chr21:47454027-47454028	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs150819157	chr21:47454031-47454032	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs558142051	chr21:47454054-47454055	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs576718281	chr21:47454107-47454108	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs140016631	chr21:47454125-47454126	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs562684270	chr21:47454162-47454163	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs574510514	chr21:47454170-47454171	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs542027166	chr21:47454203-47454204	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375888829	chr21:47454204-47454205	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs145441831	chr21:47454215-47454216	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs111538366	chr21:47454221-47454222	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs147732014	chr21:47454229-47454230	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs113214930	chr21:47454247-47454248	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs367777574	chr21:47454268-47454269	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs199530498	chr21:47454271-47454272	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs56067137	chr21:47454274-47454275	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs371903735	chr21:47454277-47454278	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79063372	chr21:47454285-47454286	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs56003076	chr21:47454300-47454301	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs55801548	chr21:47454303-47454304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75130188	chr21:47454321-47454322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79847470	chr21:47454322-47454323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77979469	chr21:47454323-47454324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs76200822	chr21:47454324-47454325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112788406	chr21:47454327-47454328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76504526	chr21:47454333-47454334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78658908	chr21:47454336-47454337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	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:78 , 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	chr21:47449400-47455400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr21:47449400-47458400	Weak transcription	Right Atrium	heart
5	chr21:47449600-47453800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:47449600-47455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr21:47451800-47455600	Weak transcription	Left Ventricle	heart
8	chr21:47451800-47458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:47452400-47454000	Enhancers	Placenta	Placenta
10	chr21:47452600-47454200	Enhancers	Fetal Stomach	stomach
11	chr21:47453200-47453800	Enhancers	Stomach Smooth Muscle	stomach
12	chr21:47453200-47454000	ZNF genes & repeats	Fetal Intestine Large	intestine
13	chr21:47453200-47454400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:47453400-47454000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:47453400-47454200	Enhancers	Fetal Lung	lung
16	chr21:47453400-47454200	Flanking Active TSS	Ovary	ovary
17	chr21:47453600-47454000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:47453800-47454000	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr21:47453800-47454000	Active TSS	HepG2	liver
20	chr21:47453800-47454200	Enhancers	Rectal Smooth Muscle	rectum
21	chr21:47454000-47454200	Active TSS	Stomach Smooth Muscle	stomach
22	chr21:47454000-47454400	Flanking Active TSS	HepG2	liver
23	chr21:47454000-47455400	Weak transcription	Fetal Intestine Large	intestine
24	chr21:47454000-47455400	Weak transcription	Placenta	Placenta
25	chr21:47454000-47455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:47454000-47455600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:47454200-47455400	Weak transcription	Fetal Lung	lung
28	chr21:47454200-47455400	Weak transcription	Fetal Stomach	stomach
29	chr21:47454200-47455400	Weak transcription	Ovary	ovary
30	chr21:47454200-47455400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr21:47454200-47455400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr21:47454400-47454600	Enhancers	HepG2	liver
33	chr21:47454400-47455600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:47454600-47455000	Weak transcription	HepG2	liver
35	chr21:47455000-47455400	Enhancers	HepG2	liver
36	chr21:47455400-47455600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:47455400-47455600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:47455400-47455600	Enhancers	Fetal Muscle Trunk	muscle
39	chr21:47455400-47455600	Flanking Active TSS	HepG2	liver
40	chr21:47455400-47456200	Enhancers	Rectal Smooth Muscle	rectum
41	chr21:47455400-47456200	Enhancers	Stomach Smooth Muscle	stomach
42	chr21:47455400-47457000	Enhancers	Fetal Intestine Large	intestine
43	chr21:47455400-47457200	Enhancers	Ovary	ovary
44	chr21:47455400-47457800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr21:47455400-47457800	Enhancers	Fetal Lung	lung
46	chr21:47455400-47458000	Enhancers	Fetal Stomach	stomach
47	chr21:47455400-47459200	Enhancers	Placenta	Placenta
48	chr21:47455600-47455800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr21:47455600-47455800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:47455600-47456000	Enhancers	Duodenum Smooth Muscle	Duodenum

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