Variant report

Variant	esv3508142
Chromosome Location	chr21:47328974-47331197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:47329478-47329550	Lung_OC	lung:	n/a	n/a
2	HDAC2	chr21:47330363-47330862	MCF-7	breast:	n/a	chr21:47330445-47330459
3	MYC	chr21:47329186-47329188	MCF-7	breast:	n/a	n/a
4	MYC	chr21:47329030-47329114	MCF-7	breast:	n/a	n/a
5	MYC	chr21:47330898-47330903	MCF-7	breast:	n/a	n/a
6	MYC	chr21:47330617-47330699	MCF-7	breast:	n/a	n/a
7	MYC	chr21:47329200-47329262	MCF-7	breast:	n/a	n/a
8	NFIC	chr21:47330211-47330839	SK-N-SH	brain:	n/a	chr21:47330583-47330599 chr21:47330581-47330597 chr21:47330581-47330598 chr21:47330582-47330599
9	NFIC	chr21:47330189-47330813	ECC-1	luminal epithelium:	n/a	chr21:47330583-47330599 chr21:47330581-47330597 chr21:47330581-47330598 chr21:47330582-47330599
10	NFIC	chr21:47330252-47330931	ECC-1	luminal epithelium:	n/a	chr21:47330583-47330599 chr21:47330581-47330597 chr21:47330581-47330598 chr21:47330582-47330599
11	SRF	chr21:47330026-47330584	MCF-7	breast:	n/a	n/a
12	USF1	chr21:47330098-47330276	SK-N-SH_RA	brain:	n/a	n/a
13	USF1	chr21:47330092-47330357	SK-N-SH_RA	brain:	n/a	n/a
14	ZNF263	chr21:47330736-47330936	HEK293-T-REx	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47330914-47330964	HMEC	breast:	n/a
2	chr21:47330914-47330964	AG10803	skin:	n/a
3	chr21:47330914-47330964	HepG2	liver:	n/a
4	chr21:47330914-47330964	GM19239	blood:	n/a
5	chr21:47330914-47330964	AG09309	skin:	n/a
6	chr21:47330914-47330964	HRPEpiC	eye:	n/a
7	chr21:47330914-47330964	HCPEpiC	choroid plexus:	n/a
8	chr21:47330914-47330964	T-47D	breast:	n/a
9	chr21:47330914-47330964	HUVEC	blood vessel:	n/a
10	chr21:47330914-47330964	NHDF-neo	bronchial:	n/a
11	chr21:47330914-47330964	HEK293	kidney:	embryo
12	chr21:47330914-47330964	AG04450	lung:	fetal
13	chr21:47330914-47330964	HRE	kidney:	n/a
14	chr21:47330914-47330964	GM12878	blood:	n/a
15	chr21:47330914-47330964	ProgFib	skin:	n/a
16	chr21:47330914-47330964	SK-N-MC	brain:	n/a
17	chr21:47330914-47330964	Hela-S3	cervix:	n/a
18	chr21:47330914-47330964	ECC-1	luminal epithelium:	n/a
19	chr21:47330914-47330964	RPTEC	kidney:	n/a
20	chr21:47330914-47330964	NH-A	brain:	n/a
21	chr21:47330914-47330964	HEEpiC	esophagus:	n/a
22	chr21:47330914-47330964	SKMC	muscle:	n/a
23	chr21:47330914-47330964	PANC-1	pancreas:	n/a
24	chr21:47330914-47330964	U87	brain:	n/a
25	chr21:47330914-47330964	K562	blood:	n/a
26	chr21:47330914-47330964	GM12892	blood:	n/a
27	chr21:47330914-47330964	AoSMC	blood vessel:	n/a
28	chr21:47330914-47330964	LNCaP	prostate:	n/a
29	chr21:47330914-47330964	GM12891	blood:	n/a
30	chr21:47330914-47330964	MCF10A-Er-Src	breast:	n/a
31	chr21:47330914-47330964	IMR90	lung:	fetal
32	chr21:47330914-47330964	PFSK-1	brain:	n/a
33	chr21:47330914-47330964	SK-N-SH	brain:	n/a
34	chr21:47330914-47330964	HNPCEpiC	eye:	n/a
35	chr21:47330914-47330964	HRCEpiC	kidney:	n/a
36	chr21:47330914-47330964	PrEC	prostate:	n/a
37	chr21:47330914-47330964	HPAEpiC	pulmonary alveolar:	n/a
38	chr21:47330914-47330964	BE2_C	brain:	n/a
39	chr21:47330914-47330964	SAEC	small airway:	n/a
40	chr21:47330914-47330964	AG09319	gingival:	n/a
41	chr21:47330914-47330964	HL-60	blood:	n/a
42	chr21:47330914-47330964	BJ	skin:	n/a
43	chr21:47330914-47330964	NHBE	bronchial:	n/a
44	chr21:47330914-47330964	CMK	blood:	n/a
45	chr21:47330914-47330964	ovcar-3	ovarian:	n/a
46	chr21:47330914-47330964	HIPEpiC	eye:	n/a
47	chr21:47330914-47330964	MCF-7	breast:	n/a
48	chr21:47330914-47330964	GM06990	blood:	n/a
49	chr21:47330914-47330964	Caco-2	colon:	n/a
50	chr21:47330914-47330964	HCM	heart:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47318888..47321827-chr21:47328391..47331106,3	MCF-7	breast:
2	chr21:47329095..47331174-chr21:47334966..47337510,2	MCF-7	breast:
3	chr21:47253579..47256281-chr21:47326370..47329354,2	K562	blood:
4	chr21:47324736..47327193-chr21:47327348..47329802,3	K562	blood:
5	chr21:47329285..47331470-chr21:47342066..47344987,2	MCF-7	breast:
6	chr21:47328644..47331016-chr21:47340908..47343121,3	MCF-7	breast:

No data

Variant related genes	Relation type
PCBP3	TF binding region
PCBP3	CpG island
ENSG00000183570	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550996819	chr21:47328982-47328983	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9976042	chr21:47328990-47328991	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148947541	chr21:47329006-47329007	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370743127	chr21:47329021-47329022	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142931137	chr21:47329022-47329023	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs151099076	chr21:47329023-47329024	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561069450	chr21:47329029-47329030	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529356776	chr21:47329038-47329039	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374036633	chr21:47329039-47329040	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541557427	chr21:47329044-47329045	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs117963482	chr21:47329063-47329064	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs74752882	chr21:47329064-47329065	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551515068	chr21:47329074-47329075	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570328940	chr21:47329101-47329102	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs112116908	chr21:47329103-47329104	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549126303	chr21:47329146-47329147	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141032876	chr21:47329193-47329194	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570035897	chr21:47329200-47329201	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs202124379	chr21:47329221-47329222	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374320839	chr21:47329228-47329229	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368321019	chr21:47329231-47329232	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371743180	chr21:47329253-47329254	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2277812	chr21:47329352-47329353	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201330830	chr21:47329364-47329365	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367782910	chr21:47329391-47329392	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201370119	chr21:47329419-47329420	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371466860	chr21:47329420-47329421	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538625178	chr21:47329423-47329424	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375755127	chr21:47329425-47329426	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556720525	chr21:47329426-47329427	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200185743	chr21:47329427-47329428	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536551516	chr21:47329431-47329432	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374292013	chr21:47329432-47329433	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377156061	chr21:47329443-47329444	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369550936	chr21:47329450-47329451	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373450618	chr21:47329451-47329452	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540470185	chr21:47329461-47329462	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559779318	chr21:47329566-47329567	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569258171	chr21:47329588-47329589	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545376900	chr21:47329590-47329591	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376991074	chr21:47329601-47329602	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187340968	chr21:47329625-47329626	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531063865	chr21:47329651-47329652	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536604557	chr21:47329673-47329674	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs79874805	chr21:47329682-47329683	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs2507741	chr21:47329697-47329698	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376651490	chr21:47329705-47329706	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192693604	chr21:47329715-47329716	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2507742	chr21:47329727-47329728	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549289630	chr21:47329738-47329739	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive 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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47313200-47335600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47314400-47330200	Weak transcription	Brain Hippocampus Middle	brain
4	chr21:47314600-47330200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr21:47315000-47330200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:47315200-47330200	Weak transcription	Adipose Nuclei	Adipose
7	chr21:47320200-47330200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:47321800-47333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:47321800-47337800	Weak transcription	Primary T cells from cord blood	blood
10	chr21:47322200-47335200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:47322400-47330200	Weak transcription	Right Ventricle	heart
12	chr21:47325000-47331400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:47325600-47335600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:47326000-47330800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:47326200-47333000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:47327000-47335600	Weak transcription	Fetal Thymus	thymus
17	chr21:47327200-47331200	Enhancers	Fetal Heart	heart
18	chr21:47328400-47329200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:47328400-47329600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:47328400-47330200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:47328400-47331200	Enhancers	Spleen	Spleen
22	chr21:47328600-47329400	ZNF genes & repeats	Thymus	Thymus
23	chr21:47328800-47329000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr21:47328800-47329000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr21:47328800-47329600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr21:47328800-47330200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr21:47329000-47329200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr21:47329000-47329600	Enhancers	Brain Germinal Matrix	brain
29	chr21:47329000-47330400	Enhancers	Esophagus	oesophagus
30	chr21:47329000-47331000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:47329200-47329600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr21:47329200-47329600	Enhancers	Brain Substantia Nigra	brain
33	chr21:47329200-47329800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr21:47329200-47330200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr21:47329200-47331200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:47329400-47334400	Strong transcription	Thymus	Thymus
37	chr21:47329600-47330000	Weak transcription	Brain Germinal Matrix	brain
38	chr21:47329600-47330000	Weak transcription	Brain Substantia Nigra	brain
39	chr21:47329600-47330200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr21:47329600-47330200	Enhancers	Fetal Muscle Trunk	muscle
41	chr21:47329600-47333400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:47330000-47330800	Enhancers	Brain Germinal Matrix	brain
43	chr21:47330000-47331000	Enhancers	Brain Substantia Nigra	brain
44	chr21:47330200-47330400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:47330200-47330400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:47330200-47330400	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr21:47330200-47330400	Enhancers	Right Ventricle	heart
48	chr21:47330200-47330600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:47330200-47330600	Enhancers	Adipose Nuclei	Adipose
50	chr21:47330200-47330600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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