Variant report

Variant	esv3455312
Chromosome Location	chr21:17770886-17775518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 202 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79365274	chr21:17770892-17770893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539405323	chr21:17770917-17770918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116519003	chr21:17770945-17770946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559050066	chr21:17770950-17770951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572873788	chr21:17770992-17770993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184990463	chr21:17771004-17771005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78021408	chr21:17771039-17771040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375388453	chr21:17771085-17771086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574739668	chr21:17771087-17771088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79636715	chr21:17771107-17771108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368094742	chr21:17771233-17771234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115309140	chr21:17771235-17771236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532685568	chr21:17771252-17771253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115455855	chr21:17771310-17771311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112817741	chr21:17771341-17771342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559519513	chr21:17771379-17771380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145987703	chr21:17771387-17771388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548439257	chr21:17771435-17771436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568569358	chr21:17771522-17771523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191554626	chr21:17771535-17771536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550809604	chr21:17771539-17771540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570730906	chr21:17771600-17771601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539380301	chr21:17771708-17771709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576390734	chr21:17771745-17771746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139920773	chr21:17771767-17771768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541465559	chr21:17771798-17771799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566386707	chr21:17771858-17771859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149002639	chr21:17771873-17771874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535534183	chr21:17771914-17771915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs240485	chr21:17771923-17771924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141824957	chr21:17771938-17771939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543579022	chr21:17771957-17771958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2823783	chr21:17771978-17771979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs116471579	chr21:17772036-17772037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199536681	chr21:17772051-17772052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572255159	chr21:17772055-17772056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34300512	chr21:17772056-17772057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28687811	chr21:17772061-17772062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386816580	chr21:17772068-17772069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533183436	chr21:17772069-17772070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62216388	chr21:17772083-17772084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73891517	chr21:17772177-17772178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564328610	chr21:17772183-17772184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572766497	chr21:17772192-17772193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559693721	chr21:17772216-17772217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs240486	chr21:17772222-17772223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542215426	chr21:17772294-17772295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183067544	chr21:17772309-17772310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150802889	chr21:17772366-17772367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114175243	chr21:17772398-17772399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17761600-17780200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:17762000-17775000	Weak transcription	Brain Anterior Caudate	brain
3	chr21:17762400-17775000	Weak transcription	Ovary	ovary
4	chr21:17770000-17772400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:17770000-17775200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:17770600-17771000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr21:17771000-17775400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:17771400-17791200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:17772400-17773200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:17773200-17774800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr21:17774800-17775400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr21:17775000-17775400	Enhancers	Brain Angular Gyrus	brain
13	chr21:17775000-17775400	Enhancers	Ovary	ovary
14	chr21:17775000-17775600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:17775000-17775600	Enhancers	Brain Anterior Caudate	brain
16	chr21:17775000-17775600	Enhancers	Brain Cingulate Gyrus	brain
17	chr21:17775000-17775600	Enhancers	Brain Substantia Nigra	brain
18	chr21:17775000-17775600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr21:17775000-17775800	Enhancers	Left Ventricle	heart
20	chr21:17775200-17775400	Enhancers	Adipose Nuclei	Adipose
21	chr21:17775200-17775600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:17775400-17782200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr21:17775400-17786600	Weak transcription	Ovary	ovary

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