Variant report

Variant	esv3324429
Chromosome Location	chr21:17948931-17950979
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	chr21:17944938..17947324-chr21:17947532..17949135,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200240941	chr21:17948956-17948957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539771150	chr21:17948964-17948965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553233481	chr21:17948965-17948966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570731265	chr21:17948990-17948991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9982294	chr21:17949037-17949038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2823893	chr21:17949053-17949054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183156267	chr21:17949054-17949055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76528264	chr21:17949060-17949061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80098568	chr21:17949083-17949084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76797043	chr21:17949116-17949117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577890618	chr21:17949120-17949121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144744970	chr21:17949124-17949125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116652471	chr21:17949133-17949134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528884826	chr21:17949163-17949164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187427919	chr21:17949164-17949165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549401560	chr21:17949175-17949176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138650029	chr21:17949182-17949183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140358408	chr21:17949184-17949185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536049781	chr21:17949199-17949200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570744395	chr21:17949201-17949202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145547826	chr21:17949218-17949219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373663700	chr21:17949233-17949234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575394306	chr21:17949330-17949331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190430280	chr21:17949454-17949455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78788685	chr21:17949461-17949462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566778895	chr21:17949489-17949490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116339261	chr21:17949526-17949527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546264366	chr21:17949655-17949656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555700253	chr21:17949656-17949657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201727113	chr21:17949665-17949666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138166411	chr21:17949667-17949668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183376964	chr21:17949680-17949681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187740294	chr21:17949691-17949692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558270286	chr21:17949704-17949705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577953181	chr21:17949706-17949707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577529773	chr21:17949713-17949714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540426247	chr21:17949727-17949728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554117583	chr21:17949737-17949738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191454253	chr21:17949739-17949740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184394687	chr21:17949745-17949746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562529267	chr21:17949750-17949751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187696044	chr21:17949752-17949753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201536820	chr21:17949756-17949757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544741340	chr21:17949761-17949762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141603562	chr21:17949763-17949764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375211040	chr21:17949777-17949778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546753451	chr21:17949785-17949786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150512006	chr21:17949795-17949796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192752266	chr21:17949804-17949805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138424413	chr21:17949806-17949807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
3	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:17936400-17950400	Weak transcription	Adipose Nuclei	Adipose
6	chr21:17936400-17951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:17936600-17951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:17936600-17951400	Weak transcription	Left Ventricle	heart
9	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:17941200-17951800	Weak transcription	Fetal Kidney	kidney
11	chr21:17942200-17950600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:17943000-17950400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr21:17943000-17951400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
15	chr21:17945800-17951200	Weak transcription	HSMMtube	muscle
16	chr21:17946000-17951400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:17946000-17951800	Weak transcription	NHDF-Ad	bronchial
18	chr21:17946200-17951400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:17946200-17955800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr21:17946400-17956000	Weak transcription	A549	lung
21	chr21:17946600-17951000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:17946600-17951600	Weak transcription	NH-A	brain
23	chr21:17946600-17956000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:17946800-17950200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:17946800-17950600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:17946800-17951200	Weak transcription	Osteobl	bone
27	chr21:17947000-17951200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:17947000-17951600	Weak transcription	HSMM	muscle
29	chr21:17950200-17950400	Enhancers	Fetal Brain Male	brain
30	chr21:17950200-17950600	Enhancers	Brain Germinal Matrix	brain
31	chr21:17950200-17951600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:17950200-17954200	Enhancers	Fetal Lung	lung
33	chr21:17950400-17953600	Enhancers	Adipose Nuclei	Adipose
34	chr21:17950400-17953800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr21:17950400-17959000	Weak transcription	Fetal Brain Male	brain
36	chr21:17950600-17951000	Weak transcription	Brain Germinal Matrix	brain
37	chr21:17950600-17951400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:17950600-17952000	Enhancers	Brain Hippocampus Middle	brain
39	chr21:17950600-17952200	Enhancers	Fetal Muscle Leg	muscle
40	chr21:17950600-17952400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr21:17950800-17951400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr21:17950800-17951400	Enhancers	Brain Cingulate Gyrus	brain

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