Variant report

Variant	esv1828052
Chromosome Location	chr21:47454154-47455584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 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	EP300	chr21:47453817-47454171	HepG2	liver:	n/a	n/a
3	EP300	chr21:47453810-47454209	HepG2	liver:	n/a	n/a
4	FOXA1	chr21:47453704-47454273	HepG2	liver:	n/a	n/a
5	FOXA1	chr21:47453757-47454231	HepG2	liver:	n/a	n/a
6	FOXA1	chr21:47453736-47454219	HepG2	liver:	n/a	n/a
7	FOXA1	chr21:47453919-47454159	T-47D	breast:	n/a	n/a
8	FOXA1	chr21:47453832-47454208	HepG2	liver:	n/a	n/a
9	FOXA2	chr21:47453945-47454181	A549	lung:	n/a	n/a
10	FOXA2	chr21:47453911-47454175	HepG2	liver:	n/a	n/a
11	HDAC2	chr21:47453897-47454230	HepG2	liver:	n/a	chr21:47454040-47454049
12	HNF4A	chr21:47453886-47454219	HepG2	liver:	n/a	chr21:47453985-47453993
13	HNF4G	chr21:47453941-47454212	HepG2	liver:	n/a	chr21:47454111-47454126 chr21:47453985-47453993
14	MAX	chr21:47453644-47454276	HepG2	liver:	n/a	n/a
15	MAZ	chr21:47455541-47457914	IMR90	lung:	n/a	chr21:47456879-47456889
16	MAZ	chr21:47453652-47454262	IMR90	lung:	n/a	n/a
17	RCOR1	chr21:47453752-47454300	IMR90	lung:	n/a	n/a
18	SP1	chr21:47453794-47454254	HepG2	liver:	n/a	n/a
19	SPI1	chr21:47455546-47455663	K562	blood:	n/a	chr21:47455609-47455622 chr21:47455612-47455621
20	TEAD4	chr21:47453778-47454287	HepG2	liver:	n/a	chr21:47454028-47454037

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47455453-47455503	RPTEC	kidney:	n/a
2	chr21:47454892-47454942	BE2_C	brain:	n/a
3	chr21:47454892-47454942	AoSMC	blood vessel:	n/a
4	chr21:47454892-47454942	HEK293	kidney:	embryo
5	chr21:47455453-47455503	BE2_C	brain:	n/a
6	chr21:47454892-47454942	H1-hESC	embryonic stem cell:	embryo
7	chr21:47454892-47454942	PANC-1	pancreas:	n/a
8	chr21:47455453-47455503	AG09319	gingival:	n/a
9	chr21:47455453-47455503	MCF10A-Er-Src	breast:	n/a
10	chr21:47454892-47454942	HPAEpiC	pulmonary alveolar:	n/a
11	chr21:47454892-47454942	HAEpiC	amniotic membrane:	n/a
12	chr21:47455453-47455503	Hepatocyte	liver:	n/a
13	chr21:47455453-47455503	ovcar-3	ovarian:	n/a
14	chr21:47455453-47455503	A549	lung:	n/a
15	chr21:47455453-47455503	GM12892	blood:	n/a
16	chr21:47454892-47454942	BJ	skin:	n/a
17	chr21:47454892-47454942	AG04450	lung:	fetal
18	chr21:47455453-47455503	GM06990	blood:	n/a
19	chr21:47455453-47455503	SAEC	small airway:	n/a
20	chr21:47455453-47455503	BJ	skin:	n/a
21	chr21:47454892-47454942	IMR90	lung:	fetal
22	chr21:47454892-47454942	ProgFib	skin:	n/a
23	chr21:47455453-47455503	T-47D	breast:	n/a
24	chr21:47455453-47455503	GM12891	blood:	n/a
25	chr21:47454892-47454942	HCF	heart:	n/a
26	chr21:47454892-47454942	GM12891	blood:	n/a
27	chr21:47454892-47454942	NH-A	brain:	n/a
28	chr21:47454892-47454942	HepG2	liver:	n/a
29	chr21:47454892-47454942	U87	brain:	n/a
30	chr21:47455453-47455503	PFSK-1	brain:	n/a
31	chr21:47454892-47454942	ovcar-3	ovarian:	n/a
32	chr21:47454892-47454942	NB4	blood:	n/a
33	chr21:47455453-47455503	HEEpiC	esophagus:	n/a
34	chr21:47455453-47455503	ECC-1	luminal epithelium:	n/a
35	chr21:47454892-47454942	HRPEpiC	eye:	n/a
36	chr21:47455453-47455503	Hela-S3	cervix:	n/a
37	chr21:47454892-47454942	HRE	kidney:	n/a
38	chr21:47454892-47454942	NT2-D1	testis:	n/a
39	chr21:47455453-47455503	HPAEpiC	pulmonary alveolar:	n/a
40	chr21:47455453-47455503	K562	blood:	n/a
41	chr21:47455453-47455503	HCT-116	colon:	n/a
42	chr21:47454892-47454942	SAEC	small airway:	n/a
43	chr21:47455453-47455503	H1-hESC	embryonic stem cell:	embryo
44	chr21:47455453-47455503	GM19239	blood:	n/a
45	chr21:47454892-47454942	NHDF-neo	bronchial:	n/a
46	chr21:47455453-47455503	HNPCEpiC	eye:	n/a
47	chr21:47455453-47455503	SK-N-SH_RA	brain:	n/a
48	chr21:47455453-47455503	CMK	blood:	n/a
49	chr21:47455453-47455503	AG04449	skin:	fetal
50	chr21:47454892-47454942	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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: 114 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562684270	chr21:47454162-47454163	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574510514	chr21:47454170-47454171	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542027166	chr21:47454203-47454204	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375888829	chr21:47454204-47454205	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145441831	chr21:47454215-47454216	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs111538366	chr21:47454221-47454222	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147732014	chr21:47454229-47454230	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113214930	chr21:47454247-47454248	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs367777574	chr21:47454268-47454269	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs199530498	chr21:47454271-47454272	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs56067137	chr21:47454274-47454275	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs371903735	chr21:47454277-47454278	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs79063372	chr21:47454285-47454286	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs56003076	chr21:47454300-47454301	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs55801548	chr21:47454303-47454304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75130188	chr21:47454321-47454322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79847470	chr21:47454322-47454323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77979469	chr21:47454323-47454324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76200822	chr21:47454324-47454325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112788406	chr21:47454327-47454328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76504526	chr21:47454333-47454334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs78658908	chr21:47454336-47454337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs75606480	chr21:47454341-47454342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs79188080	chr21:47454359-47454360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565324327	chr21:47454395-47454396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532833664	chr21:47454396-47454397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs71324478	chr21:47454397-47454398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs71324479	chr21:47454415-47454416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113364700	chr21:47454439-47454440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71319713	chr21:47454469-47454470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28564798	chr21:47454471-47454472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71319711	chr21:47454489-47454490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111625947	chr21:47454495-47454496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28715634	chr21:47454501-47454502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71319709	chr21:47454504-47454505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28400438	chr21:47454509-47454510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112128905	chr21:47454527-47454528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76347870	chr21:47454545-47454546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369386410	chr21:47454546-47454547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28542578	chr21:47454547-47454548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373510755	chr21:47454555-47454556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567900697	chr21:47454557-47454558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79605029	chr21:47454581-47454582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111515869	chr21:47454583-47454584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113629448	chr21:47454584-47454585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201126559	chr21:47454600-47454601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74853043	chr21:47454601-47454602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74404610	chr21:47454603-47454604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78002520	chr21:47454607-47454608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56207127	chr21:47454624-47454625	Weak transcription	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:39 , 50 per page) page: 1

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	chr21:47449600-47455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr21:47451800-47455600	Weak transcription	Left Ventricle	heart
7	chr21:47451800-47458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:47452600-47454200	Enhancers	Fetal Stomach	stomach
9	chr21:47453200-47454400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:47453400-47454200	Enhancers	Fetal Lung	lung
11	chr21:47453400-47454200	Flanking Active TSS	Ovary	ovary
12	chr21:47453800-47454200	Enhancers	Rectal Smooth Muscle	rectum
13	chr21:47454000-47454200	Active TSS	Stomach Smooth Muscle	stomach
14	chr21:47454000-47454400	Flanking Active TSS	HepG2	liver
15	chr21:47454000-47455400	Weak transcription	Fetal Intestine Large	intestine
16	chr21:47454000-47455400	Weak transcription	Placenta	Placenta
17	chr21:47454000-47455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:47454000-47455600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:47454200-47455400	Weak transcription	Fetal Lung	lung
20	chr21:47454200-47455400	Weak transcription	Fetal Stomach	stomach
21	chr21:47454200-47455400	Weak transcription	Ovary	ovary
22	chr21:47454200-47455400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:47454200-47455400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr21:47454400-47454600	Enhancers	HepG2	liver
25	chr21:47454400-47455600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:47454600-47455000	Weak transcription	HepG2	liver
27	chr21:47455000-47455400	Enhancers	HepG2	liver
28	chr21:47455400-47455600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:47455400-47455600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:47455400-47455600	Enhancers	Fetal Muscle Trunk	muscle
31	chr21:47455400-47455600	Flanking Active TSS	HepG2	liver
32	chr21:47455400-47456200	Enhancers	Rectal Smooth Muscle	rectum
33	chr21:47455400-47456200	Enhancers	Stomach Smooth Muscle	stomach
34	chr21:47455400-47457000	Enhancers	Fetal Intestine Large	intestine
35	chr21:47455400-47457200	Enhancers	Ovary	ovary
36	chr21:47455400-47457800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr21:47455400-47457800	Enhancers	Fetal Lung	lung
38	chr21:47455400-47458000	Enhancers	Fetal Stomach	stomach
39	chr21:47455400-47459200	Enhancers	Placenta	Placenta

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