Variant report

Variant	esv987978
Chromosome Location	chr2:127671181-127677400
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: 90 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528134742	chr2:127671223-127671224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551446237	chr2:127671238-127671239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149242280	chr2:127671265-127671266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537027263	chr2:127671319-127671320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550340846	chr2:127671372-127671373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567533536	chr2:127671404-127671405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149462319	chr2:127671448-127671449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553157066	chr2:127671492-127671493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573086550	chr2:127671528-127671529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540984105	chr2:127671547-127671548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143851607	chr2:127671559-127671560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79513617	chr2:127671583-127671584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528765907	chr2:127671593-127671594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142138700	chr2:127671657-127671658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573947348	chr2:127671678-127671679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113144756	chr2:127671696-127671697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146210801	chr2:127671715-127671716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559660786	chr2:127671750-127671751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2063378	chr2:127671751-127671752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs76453476	chr2:127671767-127671768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369637970	chr2:127671781-127671782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564975507	chr2:127671831-127671832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558119813	chr2:127671840-127671841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530537006	chr2:127671853-127671854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6431197	chr2:127671870-127671871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536510906	chr2:127671899-127671900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546909521	chr2:127671955-127671956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116753831	chr2:127671976-127671977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114786518	chr2:127672024-127672025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558487496	chr2:127672050-127672051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7589707	chr2:127672069-127672070	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543530435	chr2:127672075-127672076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186843475	chr2:127672103-127672104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75448024	chr2:127672118-127672119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201406425	chr2:127672122-127672123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11318429	chr2:127672124-127672125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112558496	chr2:127672125-127672126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75532702	chr2:127672139-127672140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6761059	chr2:127672143-127672144	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs375197702	chr2:127672213-127672214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369446910	chr2:127672260-127672261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143776298	chr2:127672279-127672280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191785041	chr2:127672284-127672285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111741451	chr2:127672314-127672315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146884323	chr2:127672338-127672339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10203679	chr2:127672359-127672360	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377443991	chr2:127672388-127672389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547239459	chr2:127672419-127672420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561009848	chr2:127672446-127672447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529713202	chr2:127672470-127672471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127667000-127671600	Weak transcription	Fetal Brain Male	brain
2	chr2:127667200-127672600	Weak transcription	Fetal Brain Female	brain
3	chr2:127671600-127673000	Enhancers	Fetal Brain Male	brain
4	chr2:127672800-127673000	Enhancers	Fetal Brain Female	brain
5	chr2:127674400-127674600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:127674600-127674800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links