Variant report

Variant	esv3438080
Chromosome Location	chr2:142872682-142874280
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	chr2:142870857..142873043-chr2:142887143..142889170,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60571278	chr2:142872766-142872767	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192103853	chr2:142872789-142872790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72851467	chr2:142872872-142872873	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184547592	chr2:142872886-142872887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577749396	chr2:142872909-142872910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76643695	chr2:142872976-142872977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148369819	chr2:142873027-142873028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199641445	chr2:142873051-142873052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552288715	chr2:142873053-142873054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373166529	chr2:142873058-142873059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554107130	chr2:142873068-142873069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112108480	chr2:142873071-142873072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113382422	chr2:142873106-142873107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180759489	chr2:142873111-142873112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376937171	chr2:142873114-142873115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs70994476	chr2:142873133-142873134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71349796	chr2:142873144-142873145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370782124	chr2:142873152-142873153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185997537	chr2:142873161-142873162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560812184	chr2:142873174-142873175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189316530	chr2:142873180-142873181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575407082	chr2:142873193-142873194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181289755	chr2:142873202-142873203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556228259	chr2:142873208-142873209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533176735	chr2:142873220-142873221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540619456	chr2:142873221-142873222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185892466	chr2:142873227-142873228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375253981	chr2:142873233-142873234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113866296	chr2:142873235-142873236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377480082	chr2:142873242-142873243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549515441	chr2:142873244-142873245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370997628	chr2:142873252-142873253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12620868	chr2:142873253-142873254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12614563	chr2:142873262-142873263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375049887	chr2:142873264-142873265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560229608	chr2:142873266-142873267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12620869	chr2:142873275-142873276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377429510	chr2:142873284-142873285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12620891	chr2:142873297-142873298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370050738	chr2:142873306-142873307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375896857	chr2:142873310-142873311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12620894	chr2:142873317-142873318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12617966	chr2:142873318-142873319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181637460	chr2:142873339-142873340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186332025	chr2:142873340-142873341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192189043	chr2:142873359-142873360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569094276	chr2:142873379-142873380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531498816	chr2:142873380-142873381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184025660	chr2:142873387-142873388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373370791	chr2:142873388-142873389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142870000-142878400	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:142870800-142877400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:142871000-142874600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:142871400-142873600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:142873600-142874200	Enhancers	Brain Substantia Nigra	brain
6	chr2:142874200-142875200	Weak transcription	Brain Substantia Nigra	brain

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