Variant report

Variant	esv2760707
Chromosome Location	chr21:28451370-28460775
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	chr21:28449732..28451857-chr21:28452054..28455156,3	K562	blood:
2	chr21:28449732..28451857-chr21:28452054..28455156,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-3	chr21:28457792-28457907	NONHSAT081559
2	lnc-ADAMTS5-3	chr21:28457792-28457907	NONHSAT081561
3	lnc-ADAMTS5-3	chr21:28457792-28457907	ucscGeneNc_uc002yml_2

Extended variants
information (count: 374 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs994584	chr21:28451370-28451371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12627643	chr21:28451439-28451440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11088018	chr21:28451497-28451498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150743310	chr21:28451503-28451504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536468411	chr21:28451507-28451508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139166871	chr21:28451511-28451512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566639595	chr21:28451596-28451597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537981650	chr21:28451606-28451607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373091789	chr21:28451609-28451610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9647125	chr21:28451610-28451611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182097508	chr21:28451626-28451627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151051593	chr21:28451644-28451645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186340385	chr21:28451648-28451649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557053447	chr21:28451676-28451677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562015711	chr21:28451716-28451717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573763423	chr21:28451722-28451723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9647126	chr21:28451730-28451731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559723889	chr21:28451801-28451802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190002426	chr21:28451825-28451826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573377137	chr21:28451836-28451837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545387846	chr21:28451853-28451854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180711894	chr21:28451933-28451934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144083965	chr21:28451954-28451955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1888429	chr21:28452009-28452010	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368802865	chr21:28452021-28452022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560854677	chr21:28452055-28452056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529845078	chr21:28452102-28452103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9647127	chr21:28452103-28452104	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533085364	chr21:28452135-28452136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185323750	chr21:28452148-28452149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538783646	chr21:28452179-28452180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112644074	chr21:28452189-28452190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551416049	chr21:28452190-28452191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537062838	chr21:28452224-28452225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73187887	chr21:28452256-28452257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146523039	chr21:28452283-28452284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536394905	chr21:28452330-28452331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553392507	chr21:28452352-28452353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573361403	chr21:28452354-28452355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139952477	chr21:28452531-28452532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565456473	chr21:28452569-28452570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576044173	chr21:28452584-28452585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190918138	chr21:28452605-28452606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73187889	chr21:28452613-28452614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529707043	chr21:28452628-28452629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546385132	chr21:28452673-28452674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560144594	chr21:28452727-28452728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143704553	chr21:28452728-28452729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552311921	chr21:28452738-28452739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183417421	chr21:28452769-28452770	Weak transcription	n/a	n/a	Overlapped CNVs	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28447400-28467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28450800-28452000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:28451000-28451800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr21:28451400-28451800	Enhancers	Fetal Muscle Leg	muscle
5	chr21:28452000-28452400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:28454200-28455000	Enhancers	Brain Cingulate Gyrus	brain
7	chr21:28454200-28455200	Enhancers	Brain Substantia Nigra	brain
8	chr21:28454400-28455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:28454600-28455000	Enhancers	Brain Anterior Caudate	brain
10	chr21:28454800-28455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr21:28455200-28456400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:28456600-28456800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:28457800-28458200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr21:28457800-28458200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr21:28457800-28458800	Enhancers	Fetal Kidney	kidney
16	chr21:28457800-28458800	Enhancers	Stomach Smooth Muscle	stomach
17	chr21:28458200-28462200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr21:28458600-28459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
20	chr21:28460400-28460800	Enhancers	Fetal Heart	heart
21	chr21:28460400-28463000	Enhancers	Adipose Nuclei	Adipose

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