Variant report

Variant	esv3432587
Chromosome Location	chr21:45814115-45814694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45813102..45816153-chr21:45817803..45820914,3	K562	blood:
2	chr21:45810327..45812082-chr21:45813683..45817814,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534919212	chr21:45814116-45814117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183874425	chr21:45814123-45814124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559339608	chr21:45814138-45814139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577707567	chr21:45814147-45814148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs45548339	chr21:45814169-45814170	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201408280	chr21:45814200-45814201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553864472	chr21:45814201-45814202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35448660	chr21:45814220-45814221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557045271	chr21:45814227-45814228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575232139	chr21:45814239-45814240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188065078	chr21:45814264-45814265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554766562	chr21:45814269-45814270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573056452	chr21:45814271-45814272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546549992	chr21:45814285-45814286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558814918	chr21:45814349-45814350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576873959	chr21:45814351-45814352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564754834	chr21:45814352-45814353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144400193	chr21:45814383-45814384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550321066	chr21:45814392-45814393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563035869	chr21:45814400-45814401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562047794	chr21:45814405-45814406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542261418	chr21:45814406-45814407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147414297	chr21:45814409-45814410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192550383	chr21:45814414-45814415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546960534	chr21:45814424-45814425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566784840	chr21:45814482-45814483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532165277	chr21:45814493-45814494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112159117	chr21:45814530-45814531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529350065	chr21:45814579-45814580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139686066	chr21:45814623-45814624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547568419	chr21:45814634-45814635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183614483	chr21:45814645-45814646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45805200-45819400	Weak transcription	Primary T cells from cord blood	blood
2	chr21:45806800-45814800	Weak transcription	Fetal Thymus	thymus
3	chr21:45807200-45839400	Weak transcription	Gastric	stomach
4	chr21:45807400-45819800	Weak transcription	Brain Angular Gyrus	brain
5	chr21:45809200-45819000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:45810200-45820600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:45810800-45823400	Weak transcription	Brain Anterior Caudate	brain
8	chr21:45810800-45825000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr21:45811200-45817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:45811200-45821600	Weak transcription	Thymus	Thymus
11	chr21:45811400-45817200	Weak transcription	Spleen	Spleen
12	chr21:45811600-45815200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:45811800-45822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:45811800-45825200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr21:45812000-45821600	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:45812200-45815600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr21:45812200-45817400	Weak transcription	Adipose Nuclei	Adipose
18	chr21:45812200-45818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:45812200-45823400	Weak transcription	Primary B cells from cord blood	blood
20	chr21:45812200-45825600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr21:45812400-45815800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr21:45812600-45815800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr21:45812800-45815000	Weak transcription	Stomach Mucosa	stomach
24	chr21:45812800-45858200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr21:45813200-45818400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:45814000-45833600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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