Variant report

Variant	esv1844181
Chromosome Location	chr21:27854701-27879342
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:3)
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	chr21:27861488..27864858-chr21:27865688..27868748,3	K562	blood:
2	chr21:27541635..27543778-chr21:27861524..27863454,2	MCF-7	breast:
3	chr21:27861488..27864858-chr21:27865688..27868748,3	K562	blood:
4	chr21:27841789..27843802-chr21:27853372..27855381,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-4	chr21:27875901-27876021	ENSG00000197934.4
2	lnc-GABPA-4	chr21:27875901-27876021	ENSG00000197934.4
3	lnc-GABPA-4	chr21:27878886-27879051	ENSG00000197934.4

No data

Variant related genes	Relation type
ENSG00000273492	chromatin interactions
ENSG00000142192	chromatin interactions

Extended variants
information (count: 917 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2830252	chr21:27854701-27854702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541607260	chr21:27854760-27854761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193124030	chr21:27854765-27854766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185135921	chr21:27854774-27854775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566571483	chr21:27854888-27854889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138934930	chr21:27854913-27854914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571435434	chr21:27854938-27854939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551885905	chr21:27854942-27854943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149437805	chr21:27854980-27854981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189103746	chr21:27854985-27854986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62216506	chr21:27855021-27855022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34789478	chr21:27855036-27855037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568011470	chr21:27855061-27855062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34865716	chr21:27855067-27855068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374688902	chr21:27855077-27855078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534231435	chr21:27855089-27855090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537217843	chr21:27855138-27855139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563994565	chr21:27855197-27855198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144438925	chr21:27855224-27855225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551819150	chr21:27855257-27855258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577383665	chr21:27855266-27855267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12483136	chr21:27855332-27855333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2830253	chr21:27855377-27855378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376992542	chr21:27855380-27855381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576608305	chr21:27855381-27855382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542284958	chr21:27855388-27855389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369559383	chr21:27855442-27855443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561939610	chr21:27855563-27855564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527655160	chr21:27855601-27855602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373702292	chr21:27855667-27855668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557124198	chr21:27855730-27855731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79194726	chr21:27855731-27855732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550053025	chr21:27855732-27855733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74423723	chr21:27855734-27855735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78415558	chr21:27855745-27855746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10598745	chr21:27855746-27855747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77585386	chr21:27855747-27855748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529191253	chr21:27855840-27855841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375804450	chr21:27855894-27855895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561915026	chr21:27855909-27855910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181078996	chr21:27855925-27855926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185681220	chr21:27855926-27855927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549411839	chr21:27855976-27855977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1369171	chr21:27855990-27855991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200524504	chr21:27856027-27856028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529134917	chr21:27856028-27856029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73349219	chr21:27856048-27856049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78811899	chr21:27856117-27856118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549286413	chr21:27856143-27856144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142364392	chr21:27856147-27856148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27839400-27856000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:27842400-27862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:27843400-27878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr21:27843600-27854800	Weak transcription	Adipose Nuclei	Adipose
5	chr21:27843800-27860200	Weak transcription	Left Ventricle	heart
6	chr21:27847000-27855000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr21:27847000-27862800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:27849400-27863000	Weak transcription	Fetal Kidney	kidney
9	chr21:27851400-27854800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr21:27851400-27863000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:27851400-27864000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:27852200-27863000	Weak transcription	Fetal Lung	lung
13	chr21:27852600-27862800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:27852600-27863000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr21:27852600-27867600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:27852800-27854800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:27852800-27856400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:27852800-27862000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:27852800-27862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:27852800-27871400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:27853000-27863200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:27856000-27856400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:27856400-27856600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:27856600-27862800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:27859600-27862400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:27859600-27862400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:27862000-27862600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr21:27862000-27862600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr21:27862200-27862400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:27862200-27862400	ZNF genes & repeats	Aorta	Aorta
31	chr21:27862400-27863200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:27862400-27863200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:27862400-27863600	Enhancers	HSMM	muscle
34	chr21:27862400-27863600	Enhancers	HSMMtube	muscle
35	chr21:27862400-27864400	Weak transcription	Aorta	Aorta
36	chr21:27862600-27863000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr21:27862600-27878800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr21:27862800-27863800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr21:27862800-27864400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:27862800-27864400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:27862800-27865200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:27863000-27863200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr21:27863000-27863400	Enhancers	Fetal Lung	lung
44	chr21:27863000-27863400	Enhancers	NHEK	skin
45	chr21:27863000-27863600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr21:27863000-27863600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr21:27863000-27863600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr21:27863000-27863600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:27863000-27863600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr21:27863000-27863600	Enhancers	Cortex derived primary cultured neurospheres	brain

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