Variant report

Variant	esv1435108
Chromosome Location	chr21:40129555-40129571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40128876..40131323-chr21:40553802..40556244,2	K562	blood:
2	chr21:40127785..40129690-chr21:40154024..40156876,2	MCF-7	breast:
3	chr21:40129051..40130983-chr21:40175842..40178311,2	K562	blood:

Variant related genes	Relation type
ENSG00000157557	chromatin interactions
ENSG00000183527	chromatin interactions

Extended variants
information (count: 4 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66481369	chr21:40129556-40129557	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567760216	chr21:40129565-40129566	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs59141972	chr21:40129568-40129569	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs199536940	chr21:40129569-40129570	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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 myeloid leukemia	20729466	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
Breast cancer	21364760	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40115400-40129600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:40124000-40134000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:40124200-40131200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr21:40124200-40133400	Weak transcription	Fetal Intestine Large	intestine
5	chr21:40124200-40134200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:40125000-40130000	Weak transcription	Aorta	Aorta
7	chr21:40125200-40132000	Weak transcription	Fetal Thymus	thymus
8	chr21:40125400-40131200	Weak transcription	Ovary	ovary
9	chr21:40125400-40132800	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:40125400-40138800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr21:40125800-40132400	Weak transcription	Fetal Intestine Small	intestine
12	chr21:40126400-40139000	Weak transcription	Esophagus	oesophagus
13	chr21:40126400-40139000	Weak transcription	Right Atrium	heart
14	chr21:40126600-40130600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:40127400-40132400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:40127400-40132600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:40127800-40131200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:40127800-40131400	Weak transcription	Fetal Stomach	stomach
19	chr21:40128200-40144600	Weak transcription	Hela-S3	cervix
20	chr21:40128400-40131000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr21:40128400-40131200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:40128400-40131400	Weak transcription	Spleen	Spleen
23	chr21:40128400-40131800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:40128400-40133200	Weak transcription	Placenta	Placenta
25	chr21:40128600-40131600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr21:40128600-40139000	Weak transcription	Left Ventricle	heart
27	chr21:40128800-40131400	Enhancers	NHEK	skin
28	chr21:40129000-40130000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:40129000-40130400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr21:40129000-40130800	Weak transcription	Fetal Lung	lung
31	chr21:40129000-40133400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:40129200-40130200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr21:40129200-40130600	Weak transcription	Colon Smooth Muscle	Colon
34	chr21:40129200-40130600	Weak transcription	Fetal Heart	heart
35	chr21:40129200-40130600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr21:40129200-40131000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr21:40129200-40131200	Weak transcription	NHLF	lung
38	chr21:40129200-40131400	Weak transcription	HSMMtube	muscle
39	chr21:40129200-40131600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:40129200-40132400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:40129200-40133400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr21:40129400-40129800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:40129400-40130400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr21:40129400-40130600	Weak transcription	NHDF-Ad	bronchial
45	chr21:40129400-40130800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr21:40129400-40131400	Weak transcription	NH-A	brain

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