Variant report

Variant	esv3354277
Chromosome Location	chr21:47619724-47624222
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	BHLHE40	chr21:47619712-47619875	K562	blood:	n/a	n/a
3	CBX3	chr21:47620835-47621598	K562	blood:	n/a	n/a
4	CEBPB	chr21:47619845-47620254	IMR90	lung:	n/a	n/a
5	CEBPB	chr21:47619894-47620216	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr21:47619975-47620251	A549	lung:	n/a	n/a
7	CEBPB	chr21:47619921-47620254	HepG2	liver:	n/a	n/a
8	CEBPB	chr21:47619858-47620283	K562	blood:	n/a	n/a
9	CTCF	chr21:47620950-47621011	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr21:47620945-47620949	Pancreas_OC	pancreas:	n/a	n/a
11	CUX1	chr21:47619950-47620147	K562	blood:	n/a	n/a
12	EBF1	chr21:47621049-47621469	GM12878	blood:	n/a	n/a
13	EGR1	chr21:47620804-47621111	K562	blood:	n/a	n/a
14	EGR1	chr21:47620927-47621099	K562	blood:	n/a	n/a
15	EP300	chr21:47620949-47621533	GM12878	blood:	n/a	n/a
16	EP300	chr21:47620966-47621440	GM12878	blood:	n/a	n/a
17	ESR1	chr21:47620683-47621148	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
18	ESR1	chr21:47620728-47621131	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
19	ESR1	chr21:47620795-47621120	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
20	ESR1	chr21:47620884-47621092	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
21	ESR1	chr21:47620853-47621558	T-47D	breast:	n/a	chr21:47621046-47621061 chr21:47621001-47621016 chr21:47621496-47621511
22	ESR1	chr21:47620851-47621536	T-47D	breast:	n/a	chr21:47621046-47621061 chr21:47621001-47621016 chr21:47621496-47621511
23	ESR1	chr21:47621391-47621602	ECC-1	luminal epithelium:	n/a	chr21:47621496-47621511
24	FOSL2	chr21:47620921-47621586	HepG2	liver:	n/a	n/a
25	FOSL2	chr21:47620810-47621574	HepG2	liver:	n/a	n/a
26	GABPA	chr21:47620908-47621445	GM12878	blood:	n/a	n/a
27	GABPA	chr21:47621052-47621513	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr21:47621203-47621412	Hela-S3	cervix:	n/a	n/a
29	GABPA	chr21:47621057-47621187	Hela-S3	cervix:	n/a	n/a
30	GATA2	chr21:47620849-47621619	K562	blood:	n/a	n/a
31	HEY1	chr21:47620819-47621557	HepG2	liver:	n/a	n/a
32	HEY1	chr21:47620880-47621453	K562	blood:	n/a	n/a
33	IRF1	chr21:47620574-47620796	K562	blood:	n/a	n/a
34	IRF4	chr21:47620755-47621636	GM12878	blood:	n/a	n/a
35	IRF4	chr21:47620969-47621354	GM12878	blood:	n/a	n/a
36	JUND	chr21:47621000-47621444	HepG2	liver:	n/a	n/a
37	JUND	chr21:47620864-47621526	HepG2	liver:	n/a	n/a
38	MAX	chr21:47622734-47623082	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr21:47622699-47623175	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr21:47620848-47621106	K562	blood:	n/a	n/a
41	MYC	chr21:47622744-47623013	HUVEC	blood vessel:	n/a	n/a
42	NR2F2	chr21:47620814-47621561	K562	blood:	n/a	n/a
43	NR2F2	chr21:47620831-47621645	K562	blood:	n/a	n/a
44	PAX5	chr21:47620737-47621559	GM12878	blood:	n/a	n/a
45	PAX5	chr21:47620887-47621566	GM12878	blood:	n/a	n/a
46	PAX5	chr21:47620891-47621507	GM12878	blood:	n/a	n/a
47	PBX3	chr21:47621007-47621465	GM12878	blood:	n/a	n/a
48	POLR2A	chr21:47623897-47624183	HepG2	liver:	n/a	n/a
49	POLR2A	chr21:47620893-47621493	HepG2	liver:	n/a	n/a
50	POLR2A	chr21:47622767-47623048	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47620347..47622870-chr21:47628360..47630979,2	K562	blood:
2	chr21:47623903..47626169-chr21:47646993..47648807,2	MCF-7	breast:
3	chr21:47621595..47623797-chr21:47628982..47632480,3	MCF-7	breast:
4	chr21:47326297..47326825-chr21:47620902..47621507,2	MCF-7	breast:
5	chr21:47604104..47606583-chr21:47618038..47621981,3	K562	blood:
6	chr21:47621818..47625200-chr21:47640268..47643011,3	K562	blood:
7	chr21:47604104..47605941-chr21:47618038..47620745,2	K562	blood:
8	chr21:47623773..47625690-chr21:47634053..47637606,3	MCF-7	breast:
9	chr21:47607532..47609411-chr21:47620514..47622375,2	K562	blood:

Variant related genes	Relation type
LSS	TF binding region
ENSG00000228404	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000160284	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs4819214	chr21:47619784-47619785	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529960495	chr21:47619819-47619820	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570236918	chr21:47619839-47619840	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs537166975	chr21:47619916-47619917	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs192470214	chr21:47619927-47619928	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs115285452	chr21:47619946-47619947	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs534365266	chr21:47619960-47619961	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs546893092	chr21:47619969-47619970	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs552922160	chr21:47620009-47620010	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs80319298	chr21:47620022-47620023	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs141381132	chr21:47620024-47620025	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs2839141	chr21:47620082-47620083	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs36093942	chr21:47620134-47620135	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs556758024	chr21:47620154-47620155	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35940800	chr21:47620170-47620171	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs575060928	chr21:47620187-47620188	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs542791254	chr21:47620267-47620268	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs76012295	chr21:47620273-47620274	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs532317082	chr21:47620305-47620306	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs2156115	chr21:47620306-47620307	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs80163162	chr21:47620315-47620316	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567597657	chr21:47620324-47620325	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs188361287	chr21:47620328-47620329	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139713601	chr21:47620346-47620347	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559738626	chr21:47620367-47620368	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376350565	chr21:47620399-47620400	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569160725	chr21:47620441-47620442	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs142902492	chr21:47620443-47620444	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs545680987	chr21:47620469-47620470	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs180730106	chr21:47620480-47620481	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs373022671	chr21:47620596-47620597	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs531036954	chr21:47620648-47620649	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs151117696	chr21:47620693-47620694	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs567654212	chr21:47620738-47620739	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs74576542	chr21:47620754-47620755	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs528151485	chr21:47620761-47620762	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs141097072	chr21:47620848-47620849	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs570884055	chr21:47620850-47620851	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs34404027	chr21:47620916-47620917	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556872375	chr21:47620934-47620935	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs113771065	chr21:47620946-47620947	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs569111636	chr21:47620972-47620973	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs28459212	chr21:47620976-47620977	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112577456	chr21:47620984-47620985	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs112916483	chr21:47620986-47620987	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs111916821	chr21:47620989-47620990	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs554707966	chr21:47621002-47621003	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs113058305	chr21:47621013-47621014	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs111348185	chr21:47621017-47621018	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	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

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:315 , 50 per page) page: 1 2 3 4 5 6 7

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	chr21:47605800-47621000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:47606600-47639800	Strong transcription	Fetal Brain Female	brain
8	chr21:47607400-47645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr21:47607400-47646200	Strong transcription	Fetal Stomach	stomach
10	chr21:47607800-47621000	Strong transcription	Liver	Liver
11	chr21:47608400-47621000	Strong transcription	Dnd41	blood
12	chr21:47608400-47622800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr21:47609000-47634800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:47609200-47621000	Strong transcription	Fetal Muscle Leg	muscle
15	chr21:47609400-47621400	Weak transcription	A549	lung
16	chr21:47609400-47621600	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr21:47609600-47623000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr21:47609800-47620000	Strong transcription	Lung	lung
19	chr21:47609800-47621000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:47609800-47621000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr21:47610000-47637600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr21:47610000-47644000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:47610200-47621000	Strong transcription	Primary T cells from cord blood	blood
24	chr21:47610800-47621000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr21:47611000-47633600	Weak transcription	Right Atrium	heart
26	chr21:47611200-47622000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr21:47611600-47620400	Strong transcription	Left Ventricle	heart
28	chr21:47611600-47621000	Strong transcription	Brain Substantia Nigra	brain
29	chr21:47611600-47621800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr21:47611600-47623000	Strong transcription	Adipose Nuclei	Adipose
31	chr21:47611600-47642400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:47611600-47643400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:47611800-47620800	Strong transcription	K562	blood
34	chr21:47611800-47621000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:47611800-47621000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr21:47611800-47621000	Strong transcription	HepG2	liver
37	chr21:47611800-47633400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr21:47611800-47634800	Strong transcription	NHDF-Ad	bronchial
39	chr21:47612000-47620600	Strong transcription	Brain Anterior Caudate	brain
40	chr21:47612000-47621000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:47612000-47621000	Strong transcription	HMEC	breast
42	chr21:47612000-47624200	Weak transcription	Small Intestine	intestine
43	chr21:47612000-47635600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr21:47612200-47644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:47612200-47645600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:47612400-47644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:47613600-47621000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr21:47613600-47621000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr21:47614200-47620800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:47614200-47622800	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links