Variant report

Variant	nsv187345
Chromosome Location	chr21:46401431-46401770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46288437..46290185-chr21:46399908..46402286,2	MCF-7	breast:
2	chr21:46361267..46363821-chr21:46400005..46402889,2	K562	blood:
3	chr21:46395684..46402043-chr21:46492415..46498561,16	K562	blood:
4	chr21:46401222..46403244-chr21:46420854..46422539,2	MCF-7	breast:
5	chr21:45759332..45762202-chr21:46401105..46402631,2	K562	blood:
6	chr21:46392385..46395500-chr21:46401098..46402764,3	MCF-7	breast:
7	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:

Variant related genes	Relation type
ENSG00000268856	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000197381	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558566046	chr21:46401446-46401447	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs368829831	chr21:46401447-46401448	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs546524330	chr21:46401449-46401450	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs571411361	chr21:46401451-46401452	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs538390515	chr21:46401462-46401463	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs150722532	chr21:46401474-46401475	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs111621022	chr21:46401482-46401483	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs13047822	chr21:46401499-46401500	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs563328485	chr21:46401508-46401509	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs13048254	chr21:46401540-46401541	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs9981181	chr21:46401560-46401561	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs200653939	chr21:46401561-46401562	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs9980582	chr21:46401575-46401576	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs535861833	chr21:46401581-46401582	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs576881040	chr21:46401595-46401596	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs9980585	chr21:46401596-46401597	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs9981264	chr21:46401612-46401613	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs72396906	chr21:46401617-46401618	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs74192256	chr21:46401652-46401653	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs74221957	chr21:46401653-46401654	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs112294694	chr21:46401655-46401656	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs11287447	chr21:46401674-46401675	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs530921223	chr21:46401678-46401679	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs376039642	chr21:46401709-46401710	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs79397872	chr21:46401710-46401711	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs9981354	chr21:46401726-46401727	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs11287446	chr21:46401731-46401732	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs67078457	chr21:46401766-46401767	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs13047290	chr21:46401767-46401768	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
2	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:46390200-46403200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr21:46390200-46406400	Weak transcription	Brain Anterior Caudate	brain
5	chr21:46390400-46402600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:46390400-46402600	Weak transcription	HUVEC	blood vessel
7	chr21:46390400-46402800	Weak transcription	Osteobl	bone
8	chr21:46390400-46408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:46390600-46402800	Weak transcription	NHLF	lung
10	chr21:46391000-46402600	Weak transcription	A549	lung
11	chr21:46391000-46403600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:46391200-46402800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:46391800-46402600	Weak transcription	Fetal Brain Male	brain
14	chr21:46392200-46402600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:46393000-46402600	Weak transcription	Ovary	ovary
16	chr21:46393000-46409200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:46393200-46402400	Weak transcription	NH-A	brain
18	chr21:46394400-46402400	Weak transcription	Hela-S3	cervix
19	chr21:46395200-46411400	Weak transcription	Liver	Liver
20	chr21:46395400-46404000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:46395600-46402800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr21:46395600-46403000	Weak transcription	Fetal Thymus	thymus
23	chr21:46395800-46402600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr21:46396600-46402400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:46396600-46402400	Weak transcription	Left Ventricle	heart
26	chr21:46396600-46402400	Weak transcription	HSMMtube	muscle
27	chr21:46397000-46402200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr21:46397000-46402400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr21:46397000-46411400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr21:46397200-46401600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr21:46397200-46402400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:46397200-46403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr21:46397200-46404400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr21:46397200-46404400	Weak transcription	Brain Hippocampus Middle	brain
35	chr21:46397400-46404200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr21:46397600-46405000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr21:46397800-46402800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr21:46397800-46404400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr21:46397800-46407400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr21:46398000-46402400	Weak transcription	Placenta	Placenta
41	chr21:46398000-46402600	Weak transcription	NHEK	skin
42	chr21:46398000-46404000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:46398000-46409000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr21:46398200-46401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr21:46398200-46401800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr21:46398200-46402600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr21:46398200-46404400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr21:46398200-46404800	Weak transcription	Brain Germinal Matrix	brain
49	chr21:46398200-46405000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr21:46398200-46405800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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