Variant report

Variant	esv3400502
Chromosome Location	chr21:40570912-40571095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	21:40565363-40575691..21:40718004-40719183	GM12878	blood:
2	chr21:40276653..40279130-chr21:40568874..40571656,2	K562	blood:
3	chr21:40551398..40560769-chr21:40565658..40576445,18	K562	blood:
4	chr21:40570372..40572709-chr21:40816957..40818525,2	MCF-7	breast:
5	chr21:40564655..40567110-chr21:40569434..40571576,2	MCF-7	breast:
6	chr21:40569031..40571999-chr21:40581201..40583406,2	K562	blood:

Variant related genes	Relation type
ENSG00000185437	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000272991	chromatin interactions
ENSG00000205581	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141349834	chr21:40570912-40570913	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs376668199	chr21:40570913-40570914	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs370679811	chr21:40570942-40570943	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs186057504	chr21:40570959-40570960	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs117580155	chr21:40570963-40570964	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs375041693	chr21:40570964-40570965	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs367974255	chr21:40570975-40570976	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs146953324	chr21:40570998-40570999	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs537193580	chr21:40571009-40571010	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs202178838	chr21:40571019-40571020	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs138058799	chr21:40571063-40571064	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs576918695	chr21:40571071-40571072	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs373655410	chr21:40571073-40571074	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs545770926	chr21:40571074-40571075	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs560017316	chr21:40571091-40571092	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40556200-40571000	Weak transcription	Lung	lung
2	chr21:40556200-40571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:40556200-40576600	Weak transcription	Esophagus	oesophagus
4	chr21:40556200-40576600	Weak transcription	Pancreas	Pancrea
5	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:40556400-40571000	Weak transcription	Ovary	ovary
7	chr21:40556600-40571000	Weak transcription	Fetal Stomach	stomach
8	chr21:40556600-40576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
10	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:40563200-40581000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:40563600-40575200	Strong transcription	HSMM	muscle
15	chr21:40563600-40588600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr21:40563800-40575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:40564800-40587800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:40565000-40581200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:40565000-40592600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:40565200-40579000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr21:40565400-40571000	Strong transcription	Osteobl	bone
26	chr21:40565400-40571400	Strong transcription	Brain Hippocampus Middle	brain
27	chr21:40565400-40574600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr21:40565400-40575400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr21:40565400-40580800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:40565400-40604200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr21:40565400-40653600	Strong transcription	Dnd41	blood
33	chr21:40565600-40585600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:40565600-40590200	Strong transcription	Liver	Liver
35	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr21:40565800-40580600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr21:40565800-40581400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr21:40565800-40590600	Strong transcription	Fetal Thymus	thymus
39	chr21:40566000-40571200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:40566000-40573800	Strong transcription	Fetal Brain Female	brain
41	chr21:40566000-40574600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr21:40566000-40575000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr21:40566000-40575200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:40566200-40571400	Strong transcription	Brain Anterior Caudate	brain
46	chr21:40566200-40574000	Strong transcription	Primary B cells from cord blood	blood
47	chr21:40566200-40575400	Strong transcription	NH-A	brain
48	chr21:40566200-40590600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr21:40566200-40590600	Strong transcription	Adipose Nuclei	Adipose
50	chr21:40566400-40575200	Strong transcription	Brain Inferior Temporal Lobe	brain

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