Variant report

Variant	nsv963824
Chromosome Location	chr2:96567900-96572509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561713959	chr2:96567971-96567972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527439080	chr2:96568018-96568019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541096825	chr2:96568057-96568058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563971644	chr2:96568190-96568191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532979449	chr2:96568217-96568218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549538786	chr2:96568219-96568220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547118562	chr2:96568229-96568230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563247668	chr2:96568234-96568235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535022145	chr2:96568240-96568241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549151237	chr2:96568241-96568242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566062493	chr2:96568250-96568251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553147684	chr2:96568263-96568264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534835861	chr2:96568270-96568271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551888886	chr2:96568278-96568279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578129915	chr2:96568280-96568281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545070588	chr2:96568281-96568282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537643735	chr2:96568283-96568284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557548357	chr2:96568284-96568285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574291813	chr2:96568310-96568311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536947839	chr2:96568384-96568385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374635142	chr2:96568389-96568390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571988995	chr2:96568398-96568399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556745286	chr2:96568421-96568422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540587298	chr2:96568431-96568432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563864238	chr2:96568451-96568452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577274985	chr2:96568453-96568454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543224319	chr2:96568459-96568460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191869882	chr2:96568460-96568461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529221317	chr2:96568462-96568463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575320999	chr2:96568473-96568474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542119161	chr2:96568475-96568476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559523259	chr2:96568477-96568478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542598393	chr2:96568490-96568491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368211259	chr2:96568547-96568548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371779698	chr2:96568550-96568551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571777751	chr2:96568565-96568566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537532050	chr2:96568574-96568575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551240799	chr2:96568618-96568619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183768630	chr2:96568638-96568639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188438973	chr2:96568639-96568640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200489248	chr2:96568655-96568656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201540310	chr2:96568682-96568683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573432964	chr2:96568686-96568687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199561638	chr2:96568694-96568695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540582720	chr2:96568697-96568698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557293283	chr2:96568726-96568727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577359976	chr2:96568740-96568741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182211133	chr2:96568776-96568777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200715214	chr2:96568780-96568781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185645586	chr2:96568796-96568797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
2	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
3	chr2:96536000-96576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:96541000-96582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
7	chr2:96543800-96596200	Weak transcription	K562	blood
8	chr2:96545000-96576400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:96546000-96577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:96547600-96575800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:96549800-96576400	Weak transcription	Thymus	Thymus
13	chr2:96549800-96576600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:96549800-96579600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:96549800-96580200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:96549800-96588600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
19	chr2:96551800-96588600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:96552400-96576200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
22	chr2:96554000-96580400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:96554200-96588600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:96556000-96576400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:96556000-96583800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:96556200-96576800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:96556200-96577400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:96556200-96582000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:96556200-96582400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:96556200-96583000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:96556400-96576400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:96556400-96577200	Weak transcription	Primary T cells from cord blood	blood
34	chr2:96556400-96577600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:96556400-96578000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:96556400-96579800	Weak transcription	Fetal Brain Female	brain
37	chr2:96556400-96582200	Weak transcription	Primary B cells from cord blood	blood
38	chr2:96556400-96585000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
40	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:96556600-96583200	Weak transcription	Fetal Lung	lung
43	chr2:96557400-96576000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:96558200-96576000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:96558200-96580000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:96558200-96582000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:96558200-96583200	Weak transcription	Ovary	ovary
49	chr2:96558400-96576000	Weak transcription	Fetal Thymus	thymus
50	chr2:96558400-96583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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