Variant report

Variant	nsv1063321
Chromosome Location	chr21:28443774-28460820
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	ucscGeneNc_uc002yml_2
2	lnc-ADAMTS5-3	chr21:28457792-28457907	NONHSAT081559
3	lnc-ADAMTS5-3	chr21:28457792-28457907	NONHSAT081561

Extended variants
information (count: 678 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9284446	chr21:28443774-28443775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117288104	chr21:28443780-28443781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79746816	chr21:28443792-28443793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140361627	chr21:28443887-28443888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117710355	chr21:28443941-28443942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73363594	chr21:28443975-28443976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557293598	chr21:28443977-28443978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191506553	chr21:28444015-28444016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537175121	chr21:28444029-28444030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556775837	chr21:28444053-28444054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568250526	chr21:28444068-28444069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572123216	chr21:28444089-28444090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138839564	chr21:28444121-28444122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542798648	chr21:28444125-28444126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2830658	chr21:28444165-28444166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs370610704	chr21:28444174-28444175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372809585	chr21:28444205-28444206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376418341	chr21:28444268-28444269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564501296	chr21:28444274-28444275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181618207	chr21:28444291-28444292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17659214	chr21:28444295-28444296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs563590582	chr21:28444414-28444415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185444924	chr21:28444460-28444461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76684698	chr21:28444462-28444463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566045408	chr21:28444471-28444472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190153028	chr21:28444528-28444529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551635025	chr21:28444530-28444531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539522187	chr21:28444562-28444563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557773892	chr21:28444563-28444564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62222953	chr21:28444565-28444566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557024711	chr21:28444566-28444567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150168233	chr21:28444592-28444593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112528124	chr21:28444610-28444611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536470065	chr21:28444673-28444674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533009058	chr21:28444702-28444703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553238719	chr21:28444742-28444743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73187879	chr21:28444767-28444768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs117483728	chr21:28444772-28444773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7279282	chr21:28444790-28444791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577976610	chr21:28444797-28444798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543404865	chr21:28444824-28444825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543307209	chr21:28444883-28444884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202090126	chr21:28444884-28444885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113671416	chr21:28444888-28444889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144620449	chr21:28444889-28444890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58691122	chr21:28444890-28444891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80046560	chr21:28444941-28444942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145725515	chr21:28444989-28444990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7278482	chr21:28444999-28445000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75270047	chr21:28445017-28445018	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28441000-28446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28441000-28449800	Weak transcription	Ovary	ovary
3	chr21:28443000-28443800	Enhancers	Fetal Heart	heart
4	chr21:28443000-28443800	Enhancers	Rectal Smooth Muscle	rectum
5	chr21:28443000-28444000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr21:28443200-28444000	Enhancers	Fetal Kidney	kidney
7	chr21:28443200-28444000	Enhancers	Stomach Smooth Muscle	stomach
8	chr21:28443200-28444200	Enhancers	Colon Smooth Muscle	Colon
9	chr21:28443200-28444200	Enhancers	Fetal Stomach	stomach
10	chr21:28446800-28447200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:28447200-28447400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr21:28447400-28467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:28448600-28448800	Enhancers	Osteobl	bone
14	chr21:28448600-28449200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:28448800-28450000	Weak transcription	Osteobl	bone
16	chr21:28449200-28449600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:28449200-28450000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:28449600-28450000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:28449800-28450200	Enhancers	Adipose Nuclei	Adipose
20	chr21:28449800-28450200	Enhancers	Ovary	ovary
21	chr21:28449800-28450800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:28450000-28450200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:28450000-28450200	Enhancers	Osteobl	bone
24	chr21:28450200-28450400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:28450200-28450600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:28450800-28452000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:28451000-28451800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr21:28451400-28451800	Enhancers	Fetal Muscle Leg	muscle
29	chr21:28452000-28452400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:28454200-28455000	Enhancers	Brain Cingulate Gyrus	brain
31	chr21:28454200-28455200	Enhancers	Brain Substantia Nigra	brain
32	chr21:28454400-28455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr21:28454600-28455000	Enhancers	Brain Anterior Caudate	brain
34	chr21:28454800-28455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:28455200-28456400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:28456600-28456800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr21:28457800-28458200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr21:28457800-28458200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr21:28457800-28458800	Enhancers	Fetal Kidney	kidney
40	chr21:28457800-28458800	Enhancers	Stomach Smooth Muscle	stomach
41	chr21:28458200-28462200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr21:28458600-28459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
44	chr21:28460400-28460800	Enhancers	Fetal Heart	heart
45	chr21:28460400-28463000	Enhancers	Adipose Nuclei	Adipose
46	chr21:28460800-28462400	Weak transcription	Fetal Heart	heart

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