Variant report

Variant	nsv913669
Chromosome Location	chr21:28932087-28981553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:28222364..28222967-chr21:28936673..28937273,3	MCF-7	breast:
2	chr21:28848733..28850996-chr21:28945586..28948554,2	K562	blood:
3	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:
4	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-5	chr21:28965174-28965489	NONHSAT081576
2	lnc-ADAMTS5-5	chr21:28968840-28969041	NONHSAT081571
3	lnc-ADAMTS5-6	chr21:28942518-28942696	NONHSAT081575
4	lnc-ADAMTS5-5	chr21:28968840-28968966	NONHSAT081576
5	lnc-ADAMTS5-6	chr21:28934419-28934869	NONHSAT081575

No data

Extended variants
information (count: 1889 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1889 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs242318	chr21:28932087-28932088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148608800	chr21:28932119-28932120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368971789	chr21:28932136-28932137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373734864	chr21:28932144-28932145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67462870	chr21:28932158-28932159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550748939	chr21:28932180-28932181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117645197	chr21:28932195-28932196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114508953	chr21:28932248-28932249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574961025	chr21:28932269-28932270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543925970	chr21:28932326-28932327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556443837	chr21:28932383-28932384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181825914	chr21:28932411-28932412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529630890	chr21:28932412-28932413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373854725	chr21:28932513-28932514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142137769	chr21:28932535-28932536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560139268	chr21:28932544-28932545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147791748	chr21:28932554-28932555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569077701	chr21:28932577-28932578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552052431	chr21:28932578-28932579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184813734	chr21:28932586-28932587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531564444	chr21:28932615-28932616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs242319	chr21:28932683-28932684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs71333159	chr21:28932686-28932687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111911207	chr21:28932687-28932688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79611145	chr21:28932694-28932695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567802696	chr21:28932695-28932696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536247615	chr21:28932700-28932701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553335421	chr21:28932860-28932861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567014905	chr21:28932894-28932895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180881231	chr21:28932914-28932915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141368312	chr21:28932924-28932925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111899677	chr21:28932948-28932949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147647103	chr21:28932949-28932950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142225067	chr21:28933003-28933004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150405421	chr21:28933009-28933010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138175289	chr21:28933073-28933074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560109931	chr21:28933083-28933084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532276901	chr21:28933084-28933085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546055240	chr21:28933090-28933091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs242320	chr21:28933123-28933124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs242321	chr21:28933135-28933136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548452455	chr21:28933136-28933137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561319646	chr21:28933168-28933169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530224196	chr21:28933177-28933178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142162808	chr21:28933199-28933200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9982999	chr21:28933201-28933202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538687054	chr21:28933205-28933206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113218003	chr21:28933232-28933233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546187683	chr21:28933235-28933236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557831947	chr21:28933276-28933277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Gastric cancer	18160780	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28928400-28937600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:28929800-28937400	Weak transcription	NHLF	lung
3	chr21:28932000-28932400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr21:28933400-28934000	Enhancers	NHEK	skin
5	chr21:28933600-28934000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:28933600-28934000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:28933600-28934000	Enhancers	Ovary	ovary
8	chr21:28933600-28934000	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr21:28933800-28934200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr21:28933800-28934600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:28934000-28937200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:28934000-28937200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:28934000-28937200	Weak transcription	Fetal Lung	lung
14	chr21:28934000-28937800	Weak transcription	NHEK	skin
15	chr21:28934000-28941800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr21:28934200-28938800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr21:28934600-28941200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:28936200-28938000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:28936600-28939200	Enhancers	Osteobl	bone
20	chr21:28937200-28937600	Enhancers	Fetal Lung	lung
21	chr21:28937200-28938000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:28937200-28938000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:28937200-28938000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:28937200-28938000	Enhancers	HSMMtube	muscle
25	chr21:28937200-28938200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:28937200-28938600	Enhancers	NHDF-Ad	bronchial
27	chr21:28937400-28938000	Enhancers	NHLF	lung
28	chr21:28937600-28938000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr21:28937600-28942200	Weak transcription	Fetal Lung	lung
30	chr21:28937800-28938000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:28937800-28938000	Enhancers	HSMM	muscle
32	chr21:28937800-28938200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr21:28937800-28938400	Enhancers	Fetal Muscle Leg	muscle
34	chr21:28937800-28939800	Enhancers	NHEK	skin
35	chr21:28938000-28939600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:28938000-28940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:28938000-28941000	Weak transcription	HSMM	muscle
38	chr21:28938000-28941200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr21:28938000-28941200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:28938000-28941200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:28938000-28941200	Weak transcription	HSMMtube	muscle
42	chr21:28938000-28941800	Weak transcription	NHLF	lung
43	chr21:28938000-28942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:28938200-28938600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:28938200-28939000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr21:28938400-28941800	Weak transcription	Fetal Muscle Leg	muscle
47	chr21:28938600-28939200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr21:28938600-28939800	Weak transcription	NHDF-Ad	bronchial
49	chr21:28938800-28939200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr21:28939000-28939200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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