Variant report

Variant	esv3522753
Chromosome Location	chr21:47472789-47473157
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	CHD1	chr21:47473013-47474761	IMR90	lung:	n/a	n/a
2	CTCF	chr21:47472916-47473025	Spleen_OC	spleen:	n/a	n/a
3	EP300	chr21:47472990-47473751	ECC-1	luminal epithelium:	n/a	n/a
4	MAZ	chr21:47473076-47477426	IMR90	lung:	n/a	chr21:47476879-47476888 chr21:47476873-47476882 chr21:47475174-47475183
5	MYC	chr21:47472803-47473072	MCF-7	breast:	n/a	n/a
6	NFIC	chr21:47473143-47473664	ECC-1	luminal epithelium:	n/a	n/a
7	NR3C1	chr21:47472738-47473155	A549	lung:	n/a	n/a
8	POLR2A	chr21:47472649-47473754	U87	brain:	n/a	n/a
9	POLR2A	chr21:47472769-47473863	U87	brain:	n/a	n/a
10	POLR2A	chr21:47473049-47473736	U87	brain:	n/a	n/a
11	POLR2A	chr21:47473013-47473051	MCF-7	breast:	n/a	n/a
12	POLR2A	chr21:47468296-47473687	IMR90	lung:	n/a	n/a
13	POLR2A	chr21:47472787-47473736	U87	brain:	n/a	n/a
14	POU2F2	chr21:47472765-47473174	GM12878	blood:	n/a	n/a
15	RAD21	chr21:47473142-47473654	IMR90	lung:	n/a	n/a
16	REST	chr21:47472811-47473088	PANC-1	pancreas:	n/a	n/a
17	SPI1	chr21:47472882-47473023	K562	blood:	n/a	n/a
18	TCF12	chr21:47473043-47473664	ECC-1	luminal epithelium:	n/a	n/a
19	TCF12	chr21:47472980-47473717	ECC-1	luminal epithelium:	n/a	n/a
20	ZBTB33	chr21:47472764-47473159	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000226115	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34349827	chr21:47472793-47472794	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370973189	chr21:47472811-47472812	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs35803155	chr21:47472812-47472813	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564656130	chr21:47472843-47472844	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs531967391	chr21:47472855-47472856	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11701147	chr21:47472860-47472861	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375856665	chr21:47472869-47472870	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112744648	chr21:47472875-47472876	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs529982894	chr21:47472893-47472894	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs71324486	chr21:47472907-47472908	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs113867983	chr21:47472908-47472909	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112703706	chr21:47472914-47472915	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548471650	chr21:47472917-47472918	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs7279270	chr21:47472918-47472919	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs79165249	chr21:47472934-47472935	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs66606136	chr21:47472938-47472939	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs566498443	chr21:47472940-47472941	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs71324487	chr21:47472941-47472942	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111788232	chr21:47472948-47472949	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113222822	chr21:47472951-47472952	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs112317326	chr21:47472958-47472959	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs112773487	chr21:47472967-47472968	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs371932541	chr21:47472971-47472972	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs112560307	chr21:47472973-47472974	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112858084	chr21:47472981-47472982	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs112313958	chr21:47472991-47472992	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs34096113	chr21:47473000-47473001	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs373958960	chr21:47473004-47473005	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs111255507	chr21:47473006-47473007	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7279437	chr21:47473017-47473018	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs34381179	chr21:47473033-47473034	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs367879995	chr21:47473037-47473038	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs113653342	chr21:47473038-47473039	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs34020844	chr21:47473046-47473047	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113260215	chr21:47473049-47473050	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs112998297	chr21:47473056-47473057	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs13050801	chr21:47473065-47473066	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111475258	chr21:47473071-47473072	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs28360783	chr21:47473098-47473099	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs553469091	chr21:47473116-47473117	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs371524899	chr21:47473124-47473125	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs571802440	chr21:47473141-47473142	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs539011112	chr21:47473148-47473149	Weak transcription Enhancers Flanking Active TSS	TF binding 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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47468200-47477800	Enhancers	NHDF-Ad	bronchial
2	chr21:47468200-47478000	Enhancers	Fetal Muscle Leg	muscle
3	chr21:47468400-47473000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:47469800-47474000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:47470000-47472800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:47470000-47473200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:47470000-47474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:47470200-47473000	Weak transcription	Osteobl	bone
9	chr21:47470200-47473200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr21:47470200-47474400	Weak transcription	Left Ventricle	heart
11	chr21:47470200-47475400	Weak transcription	Stomach Mucosa	stomach
12	chr21:47470200-47475800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:47470200-47476400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:47470400-47472800	Weak transcription	HMEC	breast
15	chr21:47470400-47473800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr21:47470400-47474000	Weak transcription	Colon Smooth Muscle	Colon
17	chr21:47470400-47474200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr21:47470400-47474400	Weak transcription	Right Atrium	heart
19	chr21:47470400-47475200	Weak transcription	Colonic Mucosa	Colon
20	chr21:47470400-47478800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:47470600-47475200	Weak transcription	Spleen	Spleen
22	chr21:47470800-47473400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr21:47470800-47474200	Weak transcription	Adipose Nuclei	Adipose
24	chr21:47470800-47474400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr21:47470800-47474400	Weak transcription	Esophagus	oesophagus
26	chr21:47470800-47475000	Weak transcription	Right Ventricle	heart
27	chr21:47470800-47475800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr21:47470800-47476600	Weak transcription	Fetal Thymus	thymus
29	chr21:47471000-47474200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:47471000-47474400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr21:47471000-47478600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:47471200-47474000	Weak transcription	Ovary	ovary
33	chr21:47471800-47473000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr21:47472000-47474800	Enhancers	HSMMtube	muscle
35	chr21:47472200-47473000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:47472200-47473600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr21:47472400-47472800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:47472400-47472800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr21:47472400-47473000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:47472400-47473400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:47472400-47476000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:47472600-47473000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr21:47472600-47473000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:47472600-47473000	Weak transcription	Fetal Lung	lung
45	chr21:47472600-47473000	Enhancers	HSMM	muscle
46	chr21:47472600-47473000	Enhancers	NH-A	brain
47	chr21:47472600-47473000	Enhancers	NHLF	lung
48	chr21:47472600-47474000	Enhancers	Placenta	Placenta
49	chr21:47472600-47475200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:47472800-47473000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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