Variant report

Variant	esv3421314
Chromosome Location	chr21:17856181-17857529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141859664	chr21:17856279-17856280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564227327	chr21:17856319-17856320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573018819	chr21:17856334-17856335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58611293	chr21:17856349-17856350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372508825	chr21:17856408-17856409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569328967	chr21:17856422-17856423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147270867	chr21:17856423-17856424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544906868	chr21:17856441-17856442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528913903	chr21:17856454-17856455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548688656	chr21:17856456-17856457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568953807	chr21:17856458-17856459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537498734	chr21:17856460-17856461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369178238	chr21:17856473-17856474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201523959	chr21:17856476-17856477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191015211	chr21:17856491-17856492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559359328	chr21:17856492-17856493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570750830	chr21:17856493-17856494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539641137	chr21:17856494-17856495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553655775	chr21:17856527-17856528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199725816	chr21:17856528-17856529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140867483	chr21:17856627-17856628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535858741	chr21:17856650-17856651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555447977	chr21:17856658-17856659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34362849	chr21:17856718-17856719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370696133	chr21:17856719-17856720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71333514	chr21:17856761-17856762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200577054	chr21:17856771-17856772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182440548	chr21:17856773-17856774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112003873	chr21:17856781-17856782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575094756	chr21:17856788-17856789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554068904	chr21:17856801-17856802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575087364	chr21:17856803-17856804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9974680	chr21:17856812-17856813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9984864	chr21:17856814-17856815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544759835	chr21:17856825-17856826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564565818	chr21:17856839-17856840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577961011	chr21:17856842-17856843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190929987	chr21:17856845-17856846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9977189	chr21:17856849-17856850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9974758	chr21:17856850-17856851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183077185	chr21:17856869-17856870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558287073	chr21:17856875-17856876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9984970	chr21:17856893-17856894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201539732	chr21:17856906-17856907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202005916	chr21:17856908-17856909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560432813	chr21:17856909-17856910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200160975	chr21:17856910-17856911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200311851	chr21:17856911-17856912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188211775	chr21:17856938-17856939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147617754	chr21:17856942-17856943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute myeloid leukemia	21251322	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
Gastric cancer	18160780	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17840400-17860800	Weak transcription	HUVEC	blood vessel
2	chr21:17841000-17881800	Weak transcription	Hela-S3	cervix
3	chr21:17846600-17859400	Weak transcription	Ovary	ovary
4	chr21:17846800-17864000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:17849000-17863000	Weak transcription	Liver	Liver
6	chr21:17850800-17858400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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