Variant report

Variant	nsv961627
Chromosome Location	chr2:96586779-96587543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538609068	chr2:96586810-96586811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551418827	chr2:96586819-96586820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558634937	chr2:96586836-96586837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575326439	chr2:96586840-96586841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538097124	chr2:96586874-96586875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554721693	chr2:96586888-96586889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575065694	chr2:96586894-96586895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540939203	chr2:96586911-96586912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560597138	chr2:96586945-96586946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572802275	chr2:96586980-96586981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544982712	chr2:96586984-96586985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565016747	chr2:96586996-96586997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569946585	chr2:96586997-96586998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530597166	chr2:96587010-96587011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550827070	chr2:96587063-96587064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561150057	chr2:96587105-96587106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529820142	chr2:96587106-96587107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546875098	chr2:96587113-96587114	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566608355	chr2:96587164-96587165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376469790	chr2:96587171-96587172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539063112	chr2:96587194-96587195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552149402	chr2:96587230-96587231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569037472	chr2:96587231-96587232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188537062	chr2:96587235-96587236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369328368	chr2:96587264-96587265	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140147028	chr2:96587267-96587268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534088333	chr2:96587268-96587269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554460269	chr2:96587280-96587281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577461136	chr2:96587330-96587331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372882854	chr2:96587347-96587348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201809830	chr2:96587363-96587364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200558089	chr2:96587374-96587375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575274549	chr2:96587397-96587398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544343875	chr2:96587398-96587399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560773886	chr2:96587416-96587417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529907925	chr2:96587461-96587462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201325676	chr2:96587491-96587492	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56791141	chr2:96587496-96587497	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs181435055	chr2:96587504-96587505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532253233	chr2:96587518-96587519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552188086	chr2:96587537-96587538	Weak transcription Strong 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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
2	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
4	chr2:96543800-96596200	Weak transcription	K562	blood
5	chr2:96549800-96588600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:96551800-96588600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
10	chr2:96554200-96588600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
13	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:96573600-96587800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:96574600-96627600	Weak transcription	HSMM	muscle
19	chr2:96575000-96600600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:96575200-96589800	Weak transcription	Colonic Mucosa	Colon
21	chr2:96575600-96588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:96575800-96592400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:96575800-96595600	Strong transcription	Dnd41	blood
24	chr2:96576000-96594800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:96576400-96590400	Weak transcription	Right Ventricle	heart
26	chr2:96576600-96596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:96576800-96596200	Weak transcription	Spleen	Spleen
28	chr2:96576800-96616200	Weak transcription	Brain Germinal Matrix	brain
29	chr2:96577000-96589200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:96577600-96587800	Weak transcription	HMEC	breast
31	chr2:96577600-96590000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:96577600-96591600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:96577600-96592600	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:96577600-96593400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:96577600-96600200	Weak transcription	A549	lung
36	chr2:96577800-96588600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:96577800-96593200	Weak transcription	NHEK	skin
38	chr2:96577800-96594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:96577800-96595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:96577800-96596400	Weak transcription	Brain Substantia Nigra	brain
41	chr2:96577800-96603400	Weak transcription	Osteobl	bone
42	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
43	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:96578000-96645000	Weak transcription	NH-A	brain
46	chr2:96578200-96586800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:96578600-96588000	Weak transcription	Thymus	Thymus
48	chr2:96579000-96596600	Weak transcription	GM12878-XiMat	blood
49	chr2:96580000-96594400	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:96580200-96594400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links