Variant report

Variant	nsv962786
Chromosome Location	chr22:28810262-28812638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117201634	chr22:28810324-28810325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16986392	chr22:28810366-28810367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551959671	chr22:28810412-28810413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570285891	chr22:28810421-28810422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534499667	chr22:28810493-28810494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147309380	chr22:28810498-28810499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71850524	chr22:28810499-28810500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386395147	chr22:28810500-28810501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577859598	chr22:28810683-28810684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547906888	chr22:28810709-28810710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143891762	chr22:28810730-28810731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536699506	chr22:28810772-28810773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554957159	chr22:28810814-28810815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576818342	chr22:28810816-28810817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537705509	chr22:28810840-28810841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559216848	chr22:28810941-28810942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373614950	chr22:28810979-28810980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540321572	chr22:28811009-28811010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577394919	chr22:28811056-28811057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541248329	chr22:28811085-28811086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553071617	chr22:28811160-28811161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34457480	chr22:28811209-28811210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75235539	chr22:28811215-28811216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541425121	chr22:28811221-28811222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190761340	chr22:28811266-28811267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530727485	chr22:28811290-28811291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545723405	chr22:28811292-28811293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564026833	chr22:28811293-28811294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528331139	chr22:28811309-28811310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182048206	chr22:28811312-28811313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs695591	chr22:28811329-28811330	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs377490038	chr22:28811358-28811359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542580102	chr22:28811361-28811362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556177760	chr22:28811382-28811383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562770690	chr22:28811425-28811426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185266027	chr22:28811469-28811470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10483149	chr22:28811488-28811489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs370919601	chr22:28811507-28811508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80049318	chr22:28811519-28811520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537419293	chr22:28811549-28811550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545327582	chr22:28811598-28811599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559326533	chr22:28811665-28811666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571047343	chr22:28811681-28811682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535267615	chr22:28811773-28811774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188179125	chr22:28811778-28811779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144397507	chr22:28811817-28811818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574481598	chr22:28811904-28811905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541488159	chr22:28811912-28811913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556618977	chr22:28811959-28811960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180707999	chr22:28811975-28811976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	21509527	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28793000-28814000	Weak transcription	Left Ventricle	heart
2	chr22:28793000-28819800	Weak transcription	Fetal Intestine Small	intestine
3	chr22:28798800-28821200	Weak transcription	Dnd41	blood
4	chr22:28805200-28810400	Weak transcription	Fetal Brain Male	brain
5	chr22:28806200-28813000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:28806800-28815400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:28806800-28815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:28807400-28821200	Weak transcription	Hela-S3	cervix
9	chr22:28807600-28810600	Weak transcription	Brain Angular Gyrus	brain
10	chr22:28807600-28814000	Weak transcription	Brain Germinal Matrix	brain
11	chr22:28808400-28821400	Weak transcription	Gastric	stomach
12	chr22:28808400-28821800	Weak transcription	Psoas Muscle	Psoas
13	chr22:28808800-28813000	Weak transcription	Aorta	Aorta
14	chr22:28809600-28810400	Enhancers	Fetal Stomach	stomach
15	chr22:28809600-28810800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr22:28809600-28811200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:28809800-28810600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:28809800-28810600	Enhancers	Adipose Nuclei	Adipose
19	chr22:28809800-28810600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr22:28809800-28810600	Enhancers	Fetal Lung	lung
21	chr22:28809800-28810600	Enhancers	Rectal Smooth Muscle	rectum
22	chr22:28809800-28810600	Enhancers	HSMMtube	muscle
23	chr22:28809800-28810600	Enhancers	HUVEC	blood vessel
24	chr22:28809800-28810600	Enhancers	Osteobl	bone
25	chr22:28809800-28810800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:28809800-28810800	Enhancers	Colon Smooth Muscle	Colon
27	chr22:28809800-28810800	Enhancers	NHDF-Ad	bronchial
28	chr22:28810000-28810400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr22:28810000-28810400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr22:28810000-28810400	Enhancers	Fetal Kidney	kidney
31	chr22:28810000-28810600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:28810000-28810600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:28810000-28810600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:28810000-28810600	Enhancers	HepG2	liver
35	chr22:28810000-28810600	Enhancers	NHLF	lung
36	chr22:28810000-28810800	Enhancers	Small Intestine	intestine
37	chr22:28810200-28810400	Enhancers	Brain Anterior Caudate	brain
38	chr22:28810200-28810600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:28810200-28810600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:28810200-28810600	Enhancers	Fetal Brain Female	brain
41	chr22:28810200-28810600	Enhancers	Fetal Heart	heart
42	chr22:28810200-28810600	Enhancers	Ovary	ovary
43	chr22:28810200-28810600	Enhancers	Right Atrium	heart
44	chr22:28810200-28810600	Enhancers	Right Ventricle	heart
45	chr22:28810200-28810600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr22:28810400-28811400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:28810400-28811800	Enhancers	Fetal Brain Male	brain
48	chr22:28810600-28810800	Enhancers	Brain Angular Gyrus	brain
49	chr22:28810600-28812800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:28810600-28813600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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