Variant report

Variant	esv3420861
Chromosome Location	chr2:142224232-142225380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:
2	chr2:142225007..142227143-chr2:142273674..142276575,2	MCF-7	breast:
3	chr2:142152511..142154867-chr2:142224989..142226849,2	MCF-7	breast:
4	chr2:142223846..142226689-chr2:142887518..142889461,2	MCF-7	breast:
5	chr2:142219246..142221471-chr2:142222872..142224953,3	MCF-7	breast:
6	chr2:142223533..142226548-chr2:142266133..142269163,3	MCF-7	breast:
7	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551146653	chr2:142224250-142224251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs77122229	chr2:142224254-142224255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549325833	chr2:142224285-142224286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569155955	chr2:142224322-142224323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111263884	chr2:142224326-142224327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76226225	chr2:142224333-142224334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551392151	chr2:142224341-142224342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76405188	chr2:142224351-142224352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546685730	chr2:142224368-142224369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139784414	chr2:142224379-142224380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533903154	chr2:142224384-142224385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553559692	chr2:142224385-142224386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144516239	chr2:142224399-142224400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369744690	chr2:142224411-142224412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201148606	chr2:142224422-142224423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535640266	chr2:142224431-142224432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72849005	chr2:142224432-142224433	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144349570	chr2:142224520-142224521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200311303	chr2:142224529-142224530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71894108	chr2:142224531-142224532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79467691	chr2:142224538-142224539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199593452	chr2:142224541-142224542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187336914	chr2:142224560-142224561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs151080585	chr2:142224594-142224595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564512303	chr2:142224595-142224596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59166627	chr2:142224612-142224613	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73963094	chr2:142224630-142224631	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs72485545	chr2:142224646-142224647	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192070394	chr2:142224648-142224649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184656208	chr2:142224652-142224653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201506069	chr2:142224664-142224665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs60523919	chr2:142224669-142224670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs60341274	chr2:142224673-142224674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143217529	chr2:142224677-142224678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs58139323	chr2:142224693-142224694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201408672	chr2:142224701-142224702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377557112	chr2:142224703-142224704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs70991167	chr2:142224705-142224706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116052088	chr2:142224761-142224762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531648343	chr2:142224773-142224774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369205533	chr2:142224795-142224796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114684155	chr2:142224811-142224812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571244391	chr2:142224818-142224819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141054705	chr2:142224849-142224850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573220610	chr2:142224851-142224852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs13018345	chr2:142224865-142224866	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs72989025	chr2:142224899-142224900	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190240384	chr2:142224954-142224955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144963872	chr2:142224976-142224977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs74870214	chr2:142224984-142224985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142221800-142225800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:142225000-142226000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr2:142225000-142227000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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