Variant report

Variant	nsv2907
Chromosome Location	chr2:127669532-127709321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127663020..127665879-chr2:127676391..127678881,2	MCF-7	breast:

Extended variants
information (count: 995 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:995 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145957449	chr2:127669595-127669596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531658351	chr2:127669636-127669637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79535473	chr2:127669662-127669663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562201832	chr2:127669714-127669715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7600745	chr2:127669716-127669717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547842000	chr2:127669739-127669740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571043408	chr2:127669752-127669753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533697058	chr2:127669782-127669783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539271459	chr2:127669803-127669804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556049961	chr2:127669838-127669839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550079084	chr2:127669951-127669952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189968092	chr2:127669983-127669984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181722736	chr2:127670018-127670019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185541095	chr2:127670034-127670035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555036033	chr2:127670088-127670089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565465208	chr2:127670089-127670090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138872059	chr2:127670105-127670106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557749820	chr2:127670122-127670123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576169862	chr2:127670132-127670133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545984104	chr2:127670139-127670140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369871207	chr2:127670191-127670192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190251462	chr2:127670192-127670193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182163897	chr2:127670219-127670220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556835149	chr2:127670247-127670248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573868007	chr2:127670265-127670266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35577041	chr2:127670296-127670297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542888401	chr2:127670347-127670348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562144235	chr2:127670383-127670384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186013574	chr2:127670409-127670410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541405773	chr2:127670416-127670417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142798452	chr2:127670418-127670419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370850921	chr2:127670435-127670436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191165402	chr2:127670442-127670443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147439267	chr2:127670456-127670457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115560098	chr2:127670478-127670479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10084325	chr2:127670496-127670497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549197931	chr2:127670500-127670501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565401639	chr2:127670627-127670628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114869722	chr2:127670639-127670640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564731117	chr2:127670647-127670648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183786197	chr2:127670658-127670659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189250783	chr2:127670676-127670677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370494369	chr2:127670677-127670678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192886904	chr2:127670688-127670689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574010355	chr2:127670690-127670691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368175947	chr2:127670758-127670759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542830917	chr2:127670787-127670788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553222292	chr2:127670789-127670790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372568846	chr2:127670895-127670896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370641626	chr2:127670896-127670897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127665000-127669600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:127665600-127669800	Enhancers	Fetal Stomach	stomach
3	chr2:127667000-127671600	Weak transcription	Fetal Brain Male	brain
4	chr2:127667200-127672600	Weak transcription	Fetal Brain Female	brain
5	chr2:127669600-127669800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:127671600-127673000	Enhancers	Fetal Brain Male	brain
7	chr2:127672800-127673000	Enhancers	Fetal Brain Female	brain
8	chr2:127674400-127674600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:127674600-127674800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:127688000-127688400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:127688400-127688600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:127688400-127689200	ZNF genes & repeats	Spleen	Spleen
13	chr2:127688600-127688800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:127688600-127692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:127688800-127689200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:127689200-127692600	Weak transcription	Spleen	Spleen
17	chr2:127690200-127691600	Enhancers	Fetal Kidney	kidney
18	chr2:127690600-127691000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:127690600-127693400	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:127690800-127691000	Enhancers	Colonic Mucosa	Colon
21	chr2:127690800-127691200	Enhancers	Fetal Brain Male	brain
22	chr2:127690800-127691200	Enhancers	Fetal Brain Female	brain
23	chr2:127691200-127692400	Weak transcription	Fetal Brain Male	brain
24	chr2:127692200-127692800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:127692400-127692600	Bivalent Enhancer	HepG2	liver
26	chr2:127692600-127692800	Enhancers	Fetal Brain Male	brain
27	chr2:127692600-127692800	Enhancers	Fetal Muscle Leg	muscle
28	chr2:127692600-127693400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:127692800-127693800	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:127692800-127697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:127693200-127694600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:127693400-127693800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:127693800-127694200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr2:127693800-127694200	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:127693800-127694200	Enhancers	Fetal Muscle Leg	muscle
36	chr2:127694000-127694200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr2:127694000-127694200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:127694600-127694800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:127694800-127697000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:127697000-127697400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:127697400-127697600	Enhancers	Spleen	Spleen
42	chr2:127697400-127698200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:127697800-127702600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:127698200-127699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:127698600-127698800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:127698600-127699000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr2:127698600-127699800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr2:127699000-127702800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr2:127699200-127700800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:127699400-127700600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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