Variant report

Variant	esv3350903
Chromosome Location	chr21:47621024-47623322
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	chr21:47620973-47621413	GM12878	blood:	n/a	n/a
2	CBX3	chr21:47620835-47621598	K562	blood:	n/a	n/a
3	EBF1	chr21:47621049-47621469	GM12878	blood:	n/a	n/a
4	EGR1	chr21:47620927-47621099	K562	blood:	n/a	n/a
5	EGR1	chr21:47620804-47621111	K562	blood:	n/a	n/a
6	EP300	chr21:47620966-47621440	GM12878	blood:	n/a	n/a
7	EP300	chr21:47620949-47621533	GM12878	blood:	n/a	n/a
8	ESR1	chr21:47620851-47621536	T-47D	breast:	n/a	chr21:47621046-47621061 chr21:47621001-47621016 chr21:47621496-47621511
9	ESR1	chr21:47621391-47621602	ECC-1	luminal epithelium:	n/a	chr21:47621496-47621511
10	ESR1	chr21:47620683-47621148	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
11	ESR1	chr21:47620884-47621092	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
12	ESR1	chr21:47620853-47621558	T-47D	breast:	n/a	chr21:47621046-47621061 chr21:47621001-47621016 chr21:47621496-47621511
13	ESR1	chr21:47620728-47621131	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
14	ESR1	chr21:47620795-47621120	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
15	FOSL2	chr21:47620921-47621586	HepG2	liver:	n/a	n/a
16	FOSL2	chr21:47620810-47621574	HepG2	liver:	n/a	n/a
17	GABPA	chr21:47621052-47621513	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr21:47620908-47621445	GM12878	blood:	n/a	n/a
19	GABPA	chr21:47621203-47621412	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr21:47621057-47621187	Hela-S3	cervix:	n/a	n/a
21	GATA2	chr21:47620849-47621619	K562	blood:	n/a	n/a
22	HEY1	chr21:47620880-47621453	K562	blood:	n/a	n/a
23	HEY1	chr21:47620819-47621557	HepG2	liver:	n/a	n/a
24	IRF4	chr21:47620969-47621354	GM12878	blood:	n/a	n/a
25	IRF4	chr21:47620755-47621636	GM12878	blood:	n/a	n/a
26	JUND	chr21:47620864-47621526	HepG2	liver:	n/a	n/a
27	JUND	chr21:47621000-47621444	HepG2	liver:	n/a	n/a
28	MAX	chr21:47622734-47623082	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr21:47622699-47623175	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr21:47620848-47621106	K562	blood:	n/a	n/a
31	MYC	chr21:47622744-47623013	HUVEC	blood vessel:	n/a	n/a
32	NR2F2	chr21:47620831-47621645	K562	blood:	n/a	n/a
33	NR2F2	chr21:47620814-47621561	K562	blood:	n/a	n/a
34	PAX5	chr21:47620891-47621507	GM12878	blood:	n/a	n/a
35	PAX5	chr21:47620737-47621559	GM12878	blood:	n/a	n/a
36	PAX5	chr21:47620887-47621566	GM12878	blood:	n/a	n/a
37	PBX3	chr21:47621007-47621465	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:47620872-47621523	HepG2	liver:	n/a	n/a
39	POLR2A	chr21:47622761-47622829	HepG2	liver:	n/a	n/a
40	POLR2A	chr21:47620724-47621565	GM12892	blood:	n/a	n/a
41	POLR2A	chr21:47620788-47621587	GM12878	blood:	n/a	n/a
42	POLR2A	chr21:47620791-47621571	GM12891	blood:	n/a	n/a
43	POLR2A	chr21:47622847-47623120	HepG2	liver:	n/a	n/a
44	POLR2A	chr21:47620857-47621519	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr21:47620877-47621500	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr21:47620893-47621493	HepG2	liver:	n/a	n/a
47	POLR2A	chr21:47623175-47623183	HepG2	liver:	n/a	n/a
48	POLR2A	chr21:47620867-47621501	GM12878	blood:	n/a	n/a
49	POLR2A	chr21:47623238-47623304	HepG2	liver:	n/a	n/a
50	POLR2A	chr21:47620864-47621580	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47326297..47326825-chr21:47620902..47621507,2	MCF-7	breast:
2	chr21:47620347..47622870-chr21:47628360..47630979,2	K562	blood:
3	chr21:47604104..47606583-chr21:47618038..47621981,3	K562	blood:
4	chr21:47607532..47609411-chr21:47620514..47622375,2	K562	blood:
5	chr21:47621818..47625200-chr21:47640268..47643011,3	K562	blood:
6	chr21:47621595..47623797-chr21:47628982..47632480,3	MCF-7	breast:

Variant related genes	Relation type
LSS	TF binding region
ENSG00000228404	chromatin interactions
ENSG00000160284	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28560443	chr21:47621036-47621037	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554028845	chr21:47621043-47621044	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs541486565	chr21:47621046-47621047	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs553417893	chr21:47621047-47621048	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs113496067	chr21:47621062-47621063	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs578094106	chr21:47621069-47621070	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs112717325	chr21:47621107-47621108	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs56385708	chr21:47621119-47621120	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs55979547	chr21:47621121-47621122	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs55958775	chr21:47621124-47621125	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs28587739	chr21:47621152-47621153	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111445918	chr21:47621156-47621157	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs62212861	chr21:47621188-47621189	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs371305812	chr21:47621197-47621198	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs111925356	chr21:47621201-47621202	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7278017	chr21:47621216-47621217	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs367961926	chr21:47621242-47621243	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs28488301	chr21:47621246-47621247	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs7276235	chr21:47621287-47621288	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113576310	chr21:47621291-47621292	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200547754	chr21:47621323-47621324	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113365635	chr21:47621332-47621333	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs13047734	chr21:47621351-47621352	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111773777	chr21:47621377-47621378	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs7276370	chr21:47621381-47621382	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369532049	chr21:47621422-47621423	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7281877	chr21:47621441-47621442	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs111421120	chr21:47621467-47621468	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs113377588	chr21:47621486-47621487	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577435864	chr21:47621490-47621491	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184914016	chr21:47621500-47621501	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564015180	chr21:47621508-47621509	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs189377983	chr21:47621512-47621513	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs542865197	chr21:47621583-47621584	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73384689	chr21:47621642-47621643	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528198077	chr21:47621657-47621658	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs558482811	chr21:47621677-47621678	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546255616	chr21:47621678-47621679	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570996212	chr21:47621681-47621682	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs116082907	chr21:47621684-47621685	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs550184008	chr21:47621685-47621686	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs377576676	chr21:47621689-47621690	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575142426	chr21:47621702-47621703	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569066833	chr21:47621706-47621707	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201811591	chr21:47621716-47621717	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs35255202	chr21:47621729-47621730	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs544319185	chr21:47621742-47621743	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs117393766	chr21:47621751-47621752	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
49	rs566623955	chr21:47621813-47621814	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377234194	chr21:47621836-47621837	Weak transcription Strong transcription	Chromatin interactive region	2 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:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47605000-47633200	Weak transcription	Stomach Mucosa	stomach
2	chr21:47605200-47646200	Weak transcription	Psoas Muscle	Psoas
3	chr21:47605400-47625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr21:47605400-47646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr21:47605400-47646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:47606600-47639800	Strong transcription	Fetal Brain Female	brain
7	chr21:47607400-47645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr21:47607400-47646200	Strong transcription	Fetal Stomach	stomach
9	chr21:47608400-47622800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr21:47609000-47634800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr21:47609400-47621400	Weak transcription	A549	lung
12	chr21:47609400-47621600	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr21:47609600-47623000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr21:47610000-47637600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:47610000-47644000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:47611000-47633600	Weak transcription	Right Atrium	heart
17	chr21:47611200-47622000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr21:47611600-47621800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr21:47611600-47623000	Strong transcription	Adipose Nuclei	Adipose
20	chr21:47611600-47642400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:47611600-47643400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:47611800-47633400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:47611800-47634800	Strong transcription	NHDF-Ad	bronchial
24	chr21:47612000-47624200	Weak transcription	Small Intestine	intestine
25	chr21:47612000-47635600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr21:47612200-47644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:47612200-47645600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:47612400-47644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:47614200-47622800	Weak transcription	NH-A	brain
30	chr21:47614200-47646000	Weak transcription	Fetal Brain Male	brain
31	chr21:47614200-47646200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr21:47615600-47621600	Strong transcription	HUVEC	blood vessel
33	chr21:47616000-47625000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr21:47616000-47625000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:47616200-47624800	Weak transcription	Hela-S3	cervix
36	chr21:47616200-47633200	Weak transcription	Fetal Heart	heart
37	chr21:47616400-47623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr21:47616800-47622600	Weak transcription	Thymus	Thymus
39	chr21:47616800-47622800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr21:47617000-47622600	Weak transcription	Spleen	Spleen
41	chr21:47617000-47625000	Weak transcription	Right Ventricle	heart
42	chr21:47617000-47640400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr21:47617200-47622600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:47617400-47621200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr21:47617400-47622600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:47618200-47622600	Weak transcription	Colonic Mucosa	Colon
47	chr21:47618200-47622600	Weak transcription	Fetal Intestine Small	intestine
48	chr21:47618200-47622600	Weak transcription	Gastric	stomach
49	chr21:47618200-47625200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr21:47618400-47621600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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