Variant report

Variant	nsv834070
Chromosome Location	chr21:28546745-28709950
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:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:28608542..28610326-chr21:28613690..28615595,2	K562	blood:
2	chr21:28670191..28672076-chr21:28673171..28674727,2	K562	blood:
3	chr21:28670191..28672076-chr21:28673171..28674727,2	K562	blood:
4	chr1:149214859..149215379-chr21:28576875..28577395,2	MCF-7	breast:
5	chr21:28608542..28610326-chr21:28613690..28615595,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-6	chr21:28577173-28577305	XLOC_013894
2	lnc-GABPA-6	chr21:28602958-28603039	XLOC_013894
3	lnc-GABPA-6	chr21:28602957-28603039	NONHSAT081564
4	lnc-GABPA-6	chr21:28577172-28577305	NONHSAT081564

No data

Variant related genes	Relation type
ENSG00000252826	chromatin interactions

Extended variants
information (count: 6011 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:6011 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13046453	chr21:28546761-28546762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560834378	chr21:28546769-28546770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368161192	chr21:28546775-28546776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146695630	chr21:28546794-28546795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540282899	chr21:28546819-28546820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9305305	chr21:28546826-28546827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376401854	chr21:28546838-28546839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555154355	chr21:28546839-28546840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186335751	chr21:28546863-28546864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9305306	chr21:28546887-28546888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531602971	chr21:28546910-28546911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550575373	chr21:28546911-28546912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5843271	chr21:28546918-28546919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3085169	chr21:28546933-28546934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537792686	chr21:28546999-28547000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567277558	chr21:28547000-28547001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190111732	chr21:28547008-28547009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182110706	chr21:28547015-28547016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566760393	chr21:28547022-28547023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538836540	chr21:28547023-28547024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9305307	chr21:28547048-28547049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140818901	chr21:28547053-28547054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73192029	chr21:28547084-28547085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150173563	chr21:28547085-28547086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574480895	chr21:28547117-28547118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138627066	chr21:28547138-28547139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560272337	chr21:28547152-28547153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532362615	chr21:28547158-28547159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537898806	chr21:28547162-28547163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35919636	chr21:28547196-28547197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs235954	chr21:28547197-28547198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531514271	chr21:28547198-28547199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548078947	chr21:28547203-28547204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567365602	chr21:28547204-28547205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186705039	chr21:28547209-28547210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530024474	chr21:28547220-28547221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546719546	chr21:28547311-28547312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189826055	chr21:28547319-28547320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201894714	chr21:28547334-28547335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2830748	chr21:28547340-28547341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs16979916	chr21:28547386-28547387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184044408	chr21:28547396-28547397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188941547	chr21:28547397-28547398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149565257	chr21:28547423-28547424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367929861	chr21:28547429-28547430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147233265	chr21:28547447-28547448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531702192	chr21:28547473-28547474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539303767	chr21:28547484-28547485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193034046	chr21:28547554-28547555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561178481	chr21:28547556-28547557	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28544800-28562200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28546200-28549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28549600-28550000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:28554800-28555400	Enhancers	Spleen	Spleen
5	chr21:28562200-28563800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:28562200-28563800	Enhancers	Hela-S3	cervix
7	chr21:28562600-28563800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:28562800-28563000	Enhancers	HSMM	muscle
9	chr21:28562800-28563400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:28562800-28563400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:28562800-28563600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:28563000-28563800	Enhancers	Fetal Kidney	kidney
13	chr21:28563000-28563800	Enhancers	Osteobl	bone
14	chr21:28563400-28564400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:28563600-28563800	Enhancers	HSMM	muscle
16	chr21:28563600-28564600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:28563800-28564600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:28563800-28565000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:28563800-28573000	Weak transcription	Osteobl	bone
20	chr21:28564400-28565000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:28564600-28564800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:28564600-28564800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:28564600-28565200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:28564600-28565400	Enhancers	NHDF-Ad	bronchial
25	chr21:28565000-28565400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr21:28565000-28573200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:28565400-28570000	Weak transcription	NHDF-Ad	bronchial
28	chr21:28565400-28572200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:28570000-28580600	Weak transcription	Ovary	ovary
30	chr21:28570600-28572800	Weak transcription	NHDF-Ad	bronchial
31	chr21:28572200-28572600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr21:28572400-28574200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:28572600-28575200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:28573000-28573600	Enhancers	Osteobl	bone
35	chr21:28573000-28574800	Enhancers	NHDF-Ad	bronchial
36	chr21:28573200-28573600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:28573200-28574200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:28573200-28574400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr21:28573600-28574600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:28573600-28578200	Weak transcription	Osteobl	bone
41	chr21:28574200-28574400	Enhancers	NHLF	lung
42	chr21:28574400-28578800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr21:28574600-28574800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:28574600-28575000	Enhancers	Fetal Lung	lung
45	chr21:28574800-28578600	Weak transcription	NHDF-Ad	bronchial
46	chr21:28575200-28576400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr21:28575600-28575800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:28575600-28575800	ZNF genes & repeats	Pancreas	Pancrea
49	chr21:28575800-28579800	Weak transcription	Pancreas	Pancrea
50	chr21:28576400-28583600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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