Variant report

Variant	esv1968371
Chromosome Location	chr21:45903954-45903956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr21:45902389-45904220	HepG2	liver:	n/a	n/a
2	HEY1	chr21:45902335-45904728	HepG2	liver:	n/a	chr21:45903689-45903704
3	HEY1	chr21:45902378-45904643	HepG2	liver:	n/a	chr21:45903689-45903704
4	MAFK	chr21:45903842-45904022	HepG2	liver:	n/a	n/a
5	MAX	chr21:45903764-45904084	HepG2	liver:	n/a	n/a
6	MAX	chr21:45902320-45904197	HepG2	liver:	n/a	n/a
7	MBD4	chr21:45903600-45904182	HepG2	liver:	n/a	n/a
8	MYC	chr21:45903918-45903994	HepG2	liver:	n/a	n/a
9	POLR2A	chr21:45902437-45904084	HepG2	liver:	n/a	n/a
10	POLR2A	chr21:45903562-45904496	HepG2	liver:	n/a	n/a
11	POLR2A	chr21:45902353-45904668	HepG2	liver:	n/a	n/a
12	POLR2A	chr21:45903854-45904006	HepG2	liver:	n/a	n/a
13	POLR2A	chr21:45902552-45904589	HepG2	liver:	n/a	n/a
14	POLR2A	chr21:45902412-45904610	HepG2	liver:	n/a	n/a
15	POLR2A	chr21:45902369-45904700	HepG2	liver:	n/a	n/a
16	POLR2A	chr21:45902243-45905465	HepG2	liver:	n/a	n/a
17	POLR2A	chr21:45902518-45904057	HepG2	liver:	n/a	n/a
18	TBP	chr21:45903799-45904649	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45902648..45905236-chr21:45906362..45908752,2	K562	blood:
2	chr21:45896261..45898915-chr21:45903489..45905136,2	K562	blood:
3	chr21:45662446..45664337-chr21:45902333..45904974,2	MCF-7	breast:
4	chr21:45758316..45760568-chr21:45903461..45906076,2	MCF-7	breast:
5	chr21:45758851..45761192-chr21:45902340..45905536,3	K562	blood:
6	chr21:45898990..45900999-chr21:45903526..45905351,2	MCF-7	breast:
7	chr21:45759118..45760920-chr21:45902719..45905047,2	MCF-7	breast:
8	chr21:45902107..45904148-chr21:45905322..45907862,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228709	TF binding region
ENSG00000232969	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000228709	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 101 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148478412	chr21:45903954-45903955	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45881800-45911800	Weak transcription	Right Atrium	heart
2	chr21:45896200-45905400	Weak transcription	Brain Germinal Matrix	brain
3	chr21:45898600-45905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:45898800-45905400	Weak transcription	Fetal Brain Female	brain
5	chr21:45898800-45906200	Weak transcription	Spleen	Spleen
6	chr21:45900800-45905000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:45901000-45916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:45902000-45904400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:45902600-45904000	Active TSS	Liver	Liver
10	chr21:45902600-45905400	Weak transcription	Fetal Intestine Small	intestine
11	chr21:45903400-45904000	Bivalent Enhancer	Placenta	Placenta
12	chr21:45903600-45904400	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr21:45903600-45904800	Weak transcription	Gastric	stomach
14	chr21:45903600-45905200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:45903800-45904000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr21:45903800-45904000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:45903800-45904000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:45903800-45904000	Enhancers	Stomach Smooth Muscle	stomach
19	chr21:45903800-45905200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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