Variant report

Variant	nsv587341
Chromosome Location	chr21:28391743-28419053
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:9)
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	chr21:28406445..28408686-chr21:28409581..28411940,2	K562	blood:
2	chr21:28394476..28396183-chr21:28398277..28400007,2	K562	blood:
3	chr21:28406445..28408686-chr21:28409581..28411940,2	K562	blood:
4	chr21:28394476..28396183-chr21:28398277..28400007,2	K562	blood:
5	chr21:28168344..28170400-chr21:28409264..28410987,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-3	chr21:28412841-28412886	NONHSAT081560
2	lnc-ADAMTS5-3	chr21:28416389-28416746	NONHSAT081560
3	lnc-GABPA-20	chr21:28395456-28395509	NONHSAT081558
4	lnc-ADAMTS5-3	chr21:28410284-28414064	NONHSAT081559
5	lnc-GABPA-20	chr21:28396740-28397770	NONHSAT081556
6	lnc-GABPA-20	chr21:28396740-28396959	NONHSAT081555
7	lnc-GABPA-20	chr21:28396740-28396980	NONHSAT081557
8	lnc-ADAMTS5-3	chr21:28410288-28414064	ucscGeneNc_uc002yml_2
9	lnc-GABPA-20	chr21:28396740-28397430	NONHSAT081558

No data

Extended variants
information (count: 1189 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1189 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2830631	chr21:28391743-28391744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199516466	chr21:28391810-28391811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559509763	chr21:28391814-28391815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145155951	chr21:28391815-28391816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189519517	chr21:28391819-28391820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398121557	chr21:28391821-28391822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560293354	chr21:28391828-28391829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532702269	chr21:28391832-28391833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552419118	chr21:28391842-28391843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141165924	chr21:28391886-28391887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537401705	chr21:28391909-28391910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548276685	chr21:28391936-28391937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2830632	chr21:28391938-28391939	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs2830633	chr21:28391952-28391953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553709986	chr21:28391981-28391982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9979318	chr21:28392015-28392016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2830634	chr21:28392021-28392022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs556467054	chr21:28392022-28392023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2830635	chr21:28392071-28392072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181476142	chr21:28392090-28392091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2830636	chr21:28392101-28392102	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs574865910	chr21:28392117-28392118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2830637	chr21:28392137-28392138	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185917378	chr21:28392149-28392150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571338456	chr21:28392154-28392155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34498329	chr21:28392198-28392199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539151258	chr21:28392201-28392202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532540952	chr21:28392203-28392204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546092323	chr21:28392236-28392237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191060033	chr21:28392320-28392321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181374478	chr21:28392321-28392322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185785684	chr21:28392351-28392352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141043489	chr21:28392365-28392366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568025953	chr21:28392430-28392431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116152335	chr21:28392467-28392468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2830638	chr21:28392478-28392479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570678291	chr21:28392495-28392496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112286434	chr21:28392509-28392510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556385607	chr21:28392536-28392537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555302244	chr21:28392547-28392548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182476068	chr21:28392548-28392549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371926588	chr21:28392583-28392584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535720687	chr21:28392598-28392599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573546505	chr21:28392599-28392600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4542933	chr21:28392621-28392622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs28479869	chr21:28392645-28392646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4411800	chr21:28392655-28392656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs233606	chr21:28392680-28392681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs454330	chr21:28392714-28392715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34267424	chr21:28392785-28392786	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:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28351800-28416600	Weak transcription	Ovary	ovary
2	chr21:28366600-28394800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:28383800-28393800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:28389600-28396800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:28389800-28392200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr21:28391200-28392200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr21:28391600-28396600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr21:28391600-28400600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:28392200-28396400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:28392200-28396400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr21:28393000-28394400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:28393200-28397600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:28393800-28394200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr21:28393800-28395600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:28394000-28395800	Enhancers	HSMMtube	muscle
16	chr21:28394200-28394400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:28394200-28395400	Enhancers	Adipose Nuclei	Adipose
18	chr21:28394400-28395000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:28394400-28395200	Enhancers	Fetal Heart	heart
20	chr21:28394400-28396600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:28394800-28395000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:28394800-28395000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr21:28394800-28395200	Enhancers	HSMM	muscle
24	chr21:28394800-28395400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr21:28394800-28396200	Enhancers	Placenta	Placenta
26	chr21:28395000-28395200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:28395000-28397800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:28395200-28396400	Weak transcription	HSMM	muscle
29	chr21:28395400-28395800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr21:28395400-28397400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:28395600-28396600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:28395800-28396000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr21:28395800-28397200	Weak transcription	HSMMtube	muscle
34	chr21:28396000-28396200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:28396000-28399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr21:28396400-28396600	Enhancers	HSMM	muscle
37	chr21:28396400-28396600	Enhancers	Osteobl	bone
38	chr21:28396400-28396800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr21:28396400-28397200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr21:28396400-28397400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:28396400-28397600	Enhancers	NHDF-Ad	bronchial
42	chr21:28396400-28397800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr21:28396400-28398000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr21:28396400-28398600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr21:28396600-28397000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr21:28396600-28397000	Enhancers	Fetal Kidney	kidney
47	chr21:28396600-28397000	Weak transcription	HSMM	muscle
48	chr21:28396600-28397000	Enhancers	NH-A	brain
49	chr21:28396600-28397600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr21:28396600-28397600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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