Variant report

Variant	nsv1066134
Chromosome Location	chr21:28382038-28406482
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:3)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:28394476..28396183-chr21:28398277..28400007,2	K562	blood:
2	chr21:28394476..28396183-chr21:28398277..28400007,2	K562	blood:
3	chr21:28406445..28408686-chr21:28409581..28411940,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-20	chr21:28395456-28395509	NONHSAT081558
2	lnc-GABPA-20	chr21:28396740-28396980	NONHSAT081557
3	lnc-GABPA-20	chr21:28396740-28397770	NONHSAT081556
4	lnc-GABPA-20	chr21:28396740-28396959	NONHSAT081555
5	lnc-GABPA-20	chr21:28396740-28397430	NONHSAT081558
6	lnc-GABPA-20	chr21:28384635-28384711	NONHSAT081558
7	lnc-GABPA-20	chr21:28384504-28384711	NONHSAT081557

No data

Extended variants
information (count: 1032 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1032 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113924039	chr21:28382042-28382043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188499269	chr21:28382076-28382077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549076781	chr21:28382098-28382099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565904463	chr21:28382116-28382117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534483680	chr21:28382203-28382204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191539429	chr21:28382218-28382219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527458994	chr21:28382224-28382225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571405848	chr21:28382232-28382233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371608488	chr21:28382252-28382253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142091894	chr21:28382271-28382272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556325498	chr21:28382350-28382351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552738041	chr21:28382351-28382352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183850680	chr21:28382362-28382363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9941828	chr21:28382377-28382378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186926838	chr21:28382390-28382391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572311002	chr21:28382391-28382392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191832013	chr21:28382402-28382403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115850450	chr21:28382404-28382405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1908952	chr21:28382503-28382504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146243781	chr21:28382504-28382505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77875890	chr21:28382595-28382596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528866109	chr21:28382600-28382601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79559042	chr21:28382601-28382602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73360012	chr21:28382616-28382617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs111848732	chr21:28382650-28382651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139350200	chr21:28382663-28382664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142908199	chr21:28382688-28382689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73360013	chr21:28382692-28382693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186735613	chr21:28382693-28382694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367614696	chr21:28382741-28382742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112450373	chr21:28382774-28382775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73361905	chr21:28382798-28382799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556817478	chr21:28382832-28382833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569728115	chr21:28382835-28382836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535414693	chr21:28382863-28382864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113284588	chr21:28382892-28382893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572491305	chr21:28382957-28382958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541505000	chr21:28382994-28382995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72479096	chr21:28383080-28383081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558101766	chr21:28383083-28383084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192321867	chr21:28383086-28383087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185600151	chr21:28383087-28383088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576814988	chr21:28383092-28383093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78425267	chr21:28383113-28383114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528906322	chr21:28383177-28383178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2830617	chr21:28383183-28383184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190813459	chr21:28383198-28383199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116300464	chr21:28383229-28383230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144090090	chr21:28383241-28383242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73361907	chr21:28383284-28383285	Weak transcription Enhancers	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:130 , 50 per page) page: 1 2 3

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	chr21:28382800-28383800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:28383400-28383800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:28383800-28385800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:28383800-28393800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:28385800-28386800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:28388600-28388800	Enhancers	Spleen	Spleen
9	chr21:28388600-28389400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:28388800-28390000	Weak transcription	Spleen	Spleen
11	chr21:28389200-28390000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:28389400-28389600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr21:28389600-28390200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr21:28389600-28396800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr21:28389800-28390200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr21:28389800-28392200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr21:28390000-28390800	Enhancers	Spleen	Spleen
18	chr21:28390200-28391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr21:28390600-28391000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr21:28391000-28391200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:28391200-28391600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr21:28391200-28391600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr21:28391200-28392200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr21:28391600-28396600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:28391600-28400600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr21:28392200-28396400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr21:28392200-28396400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:28393000-28394400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:28393200-28397600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:28393800-28394200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr21:28393800-28395600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr21:28394000-28395800	Enhancers	HSMMtube	muscle
33	chr21:28394200-28394400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:28394200-28395400	Enhancers	Adipose Nuclei	Adipose
35	chr21:28394400-28395000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:28394400-28395200	Enhancers	Fetal Heart	heart
37	chr21:28394400-28396600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:28394800-28395000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr21:28394800-28395000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr21:28394800-28395200	Enhancers	HSMM	muscle
41	chr21:28394800-28395400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr21:28394800-28396200	Enhancers	Placenta	Placenta
43	chr21:28395000-28395200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:28395000-28397800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:28395200-28396400	Weak transcription	HSMM	muscle
46	chr21:28395400-28395800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:28395400-28397400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:28395600-28396600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:28395800-28396000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr21:28395800-28397200	Weak transcription	HSMMtube	muscle

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