Variant report

Variant	nsv964711
Chromosome Location	chr22:29181980-29185333
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29179941..29182121-chr22:29182372..29184122,2	K562	blood:
2	chr22:29136633..29138535-chr22:29184332..29186376,2	MCF-7	breast:
3	chr22:29136928..29140787-chr22:29180238..29183986,5	MCF-7	breast:
4	chr22:29171571..29173553-chr22:29184100..29185761,2	MCF-7	breast:
5	chr22:29137055..29138746-chr22:29181080..29182813,2	K562	blood:
6	chr22:29179941..29182121-chr22:29182372..29184122,2	K562	blood:
7	chr22:29151815..29154169-chr22:29184646..29186865,2	MCF-7	breast:
8	chr22:29167265..29171100-chr22:29181647..29184662,4	MCF-7	breast:
9	chr22:29139785..29141422-chr22:29182514..29184632,2	MCF-7	breast:
10	chr22:29145305..29148162-chr22:29185055..29187826,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	CCDC117	hsa-miR-30c-5p	chr22:29183014-29183021
2	CCDC117	hsa-miR-30c-5p	chr22:29182727-29182749
3	CCDC117	hsa-miR-30c-5p	chr22:29184040-29184059
4	CCDC117	hsa-miR-30c-5p	chr22:29183001-29183021

Variant related genes	Relation type
ENSG00000159873	chromatin interactions
ENSG00000183765	chromatin interactions
ENSG00000100209	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373921809	chr22:29182041-29182042	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs17514713	chr22:29182070-29182071	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs139415822	chr22:29182147-29182148	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs369892620	chr22:29182157-29182158	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs377732219	chr22:29182167-29182168	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs77099742	chr22:29182169-29182170	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs145482585	chr22:29182188-29182189	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs370272489	chr22:29182204-29182205	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs138007836	chr22:29182212-29182213	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs373725869	chr22:29182213-29182214	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs554533204	chr22:29182236-29182237	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs149069980	chr22:29182243-29182244	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs148196050	chr22:29182278-29182279	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs9613680	chr22:29182289-29182290	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144460803	chr22:29182291-29182292	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs377126733	chr22:29182321-29182322	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs370581950	chr22:29182336-29182337	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs372804266	chr22:29182361-29182362	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs563450116	chr22:29182375-29182376	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs575148934	chr22:29182389-29182390	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs189905230	chr22:29182408-29182409	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs563797090	chr22:29182463-29182464	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs5762795	chr22:29182500-29182501	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs74349591	chr22:29182553-29182554	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559873305	chr22:29182579-29182580	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs138605810	chr22:29182671-29182672	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs73881144	chr22:29182696-29182697	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs45544841	chr22:29182703-29182704	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs115257029	chr22:29182723-29182724	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs578148451	chr22:29182732-29182733	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region miRNA target site	4 gene(s)	Overlapped CNVs	n/a
31	rs56119508	chr22:29182795-29182796	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552597871	chr22:29182859-29182860	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs180700061	chr22:29182868-29182869	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs535101708	chr22:29182875-29182876	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs185313500	chr22:29182882-29182883	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs146621007	chr22:29182883-29182884	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs574540888	chr22:29182998-29182999	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs61257487	chr22:29182999-29183000	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557174195	chr22:29183056-29183057	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs73881146	chr22:29183070-29183071	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544901862	chr22:29183091-29183092	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs545731676	chr22:29183100-29183101	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs369615243	chr22:29183102-29183103	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs6005881	chr22:29183133-29183134	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs371525923	chr22:29183167-29183168	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs201981028	chr22:29183184-29183185	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs572531353	chr22:29183196-29183197	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs540305674	chr22:29183214-29183215	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs561654428	chr22:29183288-29183289	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs376025458	chr22:29183305-29183306	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29169800-29190400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29170000-29182200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:29170000-29190200	Weak transcription	Fetal Heart	heart
4	chr22:29170000-29194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:29170200-29182400	Strong transcription	Fetal Stomach	stomach
6	chr22:29170400-29183800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:29170400-29184000	Strong transcription	Fetal Muscle Leg	muscle
8	chr22:29170400-29185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:29170600-29184600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:29170600-29184800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr22:29170600-29185400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:29170600-29186000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:29170600-29186400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:29170800-29186400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr22:29171000-29185600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr22:29171200-29186800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29171200-29188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:29171400-29186000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:29171800-29186200	Strong transcription	Fetal Thymus	thymus
20	chr22:29172400-29186200	Strong transcription	Placenta	Placenta
21	chr22:29172600-29184200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr22:29173200-29185600	Strong transcription	Left Ventricle	heart
23	chr22:29173800-29185600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:29173800-29193000	Weak transcription	Right Atrium	heart
25	chr22:29175000-29183600	Strong transcription	Dnd41	blood
26	chr22:29175000-29186000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:29175400-29184200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:29175400-29185600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr22:29175600-29182200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:29175600-29183600	Strong transcription	Primary B cells from cord blood	blood
31	chr22:29175600-29184800	Strong transcription	Thymus	Thymus
32	chr22:29175600-29185800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:29175800-29185200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:29175800-29185600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:29175800-29186200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:29176000-29183200	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr22:29176200-29183000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr22:29176200-29183800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:29176200-29184200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:29176200-29184600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr22:29176400-29182200	Strong transcription	Lung	lung
42	chr22:29176400-29182400	Strong transcription	NHEK	skin
43	chr22:29176400-29184000	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr22:29176400-29184400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:29176400-29184600	Strong transcription	Adipose Nuclei	Adipose
46	chr22:29176400-29185000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:29176400-29185200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:29176400-29185600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:29176400-29186000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr22:29176600-29183200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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