Variant report

Variant	nsv913417
Chromosome Location	chr21:17762340-17777827
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:0)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386.6
2	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386
3	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386
4	lnc-USP25-2	chr21:17763934-17764005	NONHSAT081228
5	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386.6
6	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386.6
7	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386.6
8	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386
9	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386
10	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386.6
11	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386
12	lnc-USP25-2	chr21:17763934-17764005	ENSG00000215386.6
13	lnc-USP25-2	chr21:17763956-17764005	NONHSAT081235

No data

Variant related genes	Relation type
MFN2	miRNA target sites
RICH2	miRNA target sites
RAD54B	miRNA target sites
SMAD5	miRNA target sites

Extended variants
information (count: 726 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs240472	chr21:17762340-17762341	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576307547	chr21:17762378-17762379	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs141514118	chr21:17762398-17762399	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs544606926	chr21:17762399-17762400	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190215831	chr21:17762461-17762462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75539542	chr21:17762529-17762530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539715346	chr21:17762579-17762580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540730256	chr21:17762596-17762597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560526457	chr21:17762597-17762598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs369835053	chr21:17762638-17762639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs240473	chr21:17762643-17762644	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549131295	chr21:17762657-17762658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568983060	chr21:17762663-17762664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs150886138	chr21:17762674-17762675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551427054	chr21:17762710-17762711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs240474	chr21:17762716-17762717	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551991951	chr21:17762739-17762740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553362435	chr21:17762761-17762762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566990025	chr21:17762769-17762770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs370540433	chr21:17762827-17762828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372801454	chr21:17762856-17762857	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377089603	chr21:17762857-17762858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35629242	chr21:17762881-17762882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148462770	chr21:17762882-17762883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181051827	chr21:17762885-17762886	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113149943	chr21:17762886-17762887	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76985435	chr21:17762899-17762900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560243098	chr21:17762901-17762902	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs240475	chr21:17762904-17762905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs544882699	chr21:17762917-17762918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2044735	chr21:17762920-17762921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs57551630	chr21:17762954-17762955	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540596422	chr21:17762994-17762995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560495305	chr21:17762997-17762998	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529381355	chr21:17763005-17763006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs542649844	chr21:17763008-17763009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562895735	chr21:17763012-17763013	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs28404015	chr21:17763026-17763027	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185936739	chr21:17763030-17763031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs368199132	chr21:17763041-17763042	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs144694052	chr21:17763042-17763043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565562617	chr21:17763054-17763055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs147487931	chr21:17763062-17763063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs188785727	chr21:17763070-17763071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs240476	chr21:17763122-17763123	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79674935	chr21:17763123-17763124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185572746	chr21:17763175-17763176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs8129609	chr21:17763197-17763198	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375801984	chr21:17763200-17763201	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142163463	chr21:17763217-17763218	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17735800-17767200	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:17745200-17764000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17752800-17763200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:17760600-17762400	Enhancers	Ovary	ovary
5	chr21:17760800-17762400	Enhancers	Placenta	Placenta
6	chr21:17761600-17766600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:17761600-17780200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:17761800-17763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:17762000-17762400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:17762000-17775000	Weak transcription	Brain Anterior Caudate	brain
11	chr21:17762200-17764200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:17762400-17775000	Weak transcription	Ovary	ovary
13	chr21:17763200-17764600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:17763200-17765000	Weak transcription	Brain Germinal Matrix	brain
15	chr21:17763200-17768800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr21:17763400-17763800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr21:17763800-17765200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:17764000-17764800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr21:17764200-17766200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:17764600-17765200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:17764800-17765400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr21:17765400-17766000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr21:17766000-17769600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:17766600-17767400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:17767400-17769400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:17768400-17768600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:17769000-17769200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr21:17769600-17770000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr21:17769600-17770200	ZNF genes & repeats	Fetal Stomach	stomach
30	chr21:17770000-17772400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr21:17770000-17775200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:17770600-17771000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr21:17771000-17775400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr21:17771400-17791200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:17772400-17773200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr21:17773200-17774800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr21:17774800-17775400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr21:17775000-17775400	Enhancers	Brain Angular Gyrus	brain
39	chr21:17775000-17775400	Enhancers	Ovary	ovary
40	chr21:17775000-17775600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:17775000-17775600	Enhancers	Brain Anterior Caudate	brain
42	chr21:17775000-17775600	Enhancers	Brain Cingulate Gyrus	brain
43	chr21:17775000-17775600	Enhancers	Brain Substantia Nigra	brain
44	chr21:17775000-17775600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr21:17775000-17775800	Enhancers	Left Ventricle	heart
46	chr21:17775200-17775400	Enhancers	Adipose Nuclei	Adipose
47	chr21:17775200-17775600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr21:17775400-17782200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr21:17775400-17786600	Weak transcription	Ovary	ovary
50	chr21:17775600-17776800	Weak transcription	Adipose Nuclei	Adipose

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