Variant report

Variant	esv3383787
Chromosome Location	chr2:142223732-142225880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535748223	chr2:142223740-142223741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555663555	chr2:142223747-142223748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58627041	chr2:142223749-142223750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35398890	chr2:142223831-142223832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557920678	chr2:142223924-142223925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78586177	chr2:142223932-142223933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529239275	chr2:142223960-142223961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553541561	chr2:142223966-142223967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565549525	chr2:142223981-142223982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573323262	chr2:142223985-142223986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62168044	chr2:142224003-142224004	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562024809	chr2:142224024-142224025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75291188	chr2:142224045-142224046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544193193	chr2:142224079-142224080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551822491	chr2:142224122-142224123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77797036	chr2:142224128-142224129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564443322	chr2:142224134-142224135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72849004	chr2:142224148-142224149	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546735109	chr2:142224165-142224166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146875257	chr2:142224230-142224231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551146653	chr2:142224250-142224251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77122229	chr2:142224254-142224255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549325833	chr2:142224285-142224286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569155955	chr2:142224322-142224323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111263884	chr2:142224326-142224327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76226225	chr2:142224333-142224334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551392151	chr2:142224341-142224342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76405188	chr2:142224351-142224352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546685730	chr2:142224368-142224369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139784414	chr2:142224379-142224380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533903154	chr2:142224384-142224385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553559692	chr2:142224385-142224386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144516239	chr2:142224399-142224400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369744690	chr2:142224411-142224412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201148606	chr2:142224422-142224423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535640266	chr2:142224431-142224432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs72849005	chr2:142224432-142224433	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144349570	chr2:142224520-142224521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200311303	chr2:142224529-142224530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71894108	chr2:142224531-142224532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79467691	chr2:142224538-142224539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199593452	chr2:142224541-142224542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187336914	chr2:142224560-142224561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs151080585	chr2:142224594-142224595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs564512303	chr2:142224595-142224596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs59166627	chr2:142224612-142224613	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73963094	chr2:142224630-142224631	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72485545	chr2:142224646-142224647	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192070394	chr2:142224648-142224649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184656208	chr2:142224652-142224653	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:6 , 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
4	chr2:142225400-142226600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:142225600-142227000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:142225800-142226000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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