Variant report

Variant	esv3347478
Chromosome Location	chr21:28409731-28412229
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	chr21:28406445..28408686-chr21:28409581..28411940,2	K562	blood:
2	chr21:28168344..28170400-chr21:28409264..28410987,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-3	chr21:28410284-28414064	NONHSAT081559
2	lnc-ADAMTS5-3	chr21:28410288-28414064	ucscGeneNc_uc002yml_2

Extended variants
information (count: 132 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144356478	chr21:28409736-28409737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563108	chr21:28409743-28409744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs80166818	chr21:28409746-28409747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531061745	chr21:28409752-28409753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148806413	chr21:28409755-28409756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545803623	chr21:28409778-28409779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562622418	chr21:28409785-28409786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs447687	chr21:28409832-28409833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542082851	chr21:28409884-28409885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs394909	chr21:28409934-28409935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545029277	chr21:28409938-28409939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147796027	chr21:28409947-28409948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568967321	chr21:28409982-28409983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560546650	chr21:28409992-28409993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542520389	chr21:28410004-28410005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116943580	chr21:28410016-28410017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190714085	chr21:28410028-28410029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182388002	chr21:28410120-28410121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537913772	chr21:28410126-28410127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368778491	chr21:28410242-28410243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187873122	chr21:28410244-28410245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537454	chr21:28410251-28410252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2849978	chr21:28410271-28410272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191186822	chr21:28410278-28410279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536653	chr21:28410303-28410304	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs368063000	chr21:28410312-28410313	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs575974037	chr21:28410337-28410338	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs182874882	chr21:28410342-28410343	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs536517	chr21:28410351-28410352	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs370593381	chr21:28410378-28410379	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs75291142	chr21:28410379-28410380	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs529671687	chr21:28410393-28410394	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs138899007	chr21:28410394-28410395	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs71183594	chr21:28410395-28410396	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs2830644	chr21:28410418-28410419	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs187601287	chr21:28410429-28410430	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539471245	chr21:28410442-28410443	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs556182117	chr21:28410466-28410467	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs576222901	chr21:28410479-28410480	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs541919799	chr21:28410537-28410538	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs377521590	chr21:28410556-28410557	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs2830645	chr21:28410610-28410611	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573468870	chr21:28410638-28410639	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs142606308	chr21:28410658-28410659	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs541211255	chr21:28410694-28410695	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs564271510	chr21:28410709-28410710	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs192849832	chr21:28410737-28410738	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs184692572	chr21:28410751-28410752	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs546301116	chr21:28410769-28410770	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs73378334	chr21:28410771-28410772	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	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
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28351800-28416600	Weak transcription	Ovary	ovary
2	chr21:28407000-28409800	Weak transcription	Psoas Muscle	Psoas
3	chr21:28409400-28410000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:28409400-28412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:28409400-28415800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:28409600-28411800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:28410000-28410200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr21:28411800-28413400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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