Variant report

Variant	esv3425744
Chromosome Location	chr2:127231632-127233780
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	chr2:127219083..127220899-chr2:127231982..127233485,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145610735	chr2:127232804-127232805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564314910	chr2:127232807-127232808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367952348	chr2:127232858-127232859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533136249	chr2:127232875-127232876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55940613	chr2:127232891-127232892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562582833	chr2:127232892-127232893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113241567	chr2:127232939-127232940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541945105	chr2:127232972-127232973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77504579	chr2:127232982-127232983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548136611	chr2:127232983-127232984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184566765	chr2:127233015-127233016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148489423	chr2:127233021-127233022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547474507	chr2:127233058-127233059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570988908	chr2:127233078-127233079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115102962	chr2:127233091-127233092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12996594	chr2:127233114-127233115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576638700	chr2:127233149-127233150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190197426	chr2:127233151-127233152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568465873	chr2:127233157-127233158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182359237	chr2:127233167-127233168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548025395	chr2:127233199-127233200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185107683	chr2:127233200-127233201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75171600	chr2:127233205-127233206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564149969	chr2:127233237-127233238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577785088	chr2:127233248-127233249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142509607	chr2:127233290-127233291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563443938	chr2:127233365-127233366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77862562	chr2:127233407-127233408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548859809	chr2:127233427-127233428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147573153	chr2:127233438-127233439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79166072	chr2:127233442-127233443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78142377	chr2:127233446-127233447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181713957	chr2:127233447-127233448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147723896	chr2:127233452-127233453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368160937	chr2:127233458-127233459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117898503	chr2:127233489-127233490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75102187	chr2:127233512-127233513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548382413	chr2:127233517-127233518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145841611	chr2:127233534-127233535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147801943	chr2:127233562-127233563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs715915	chr2:127233566-127233567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534574748	chr2:127233589-127233590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557900222	chr2:127233603-127233604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568219540	chr2:127233702-127233703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75122292	chr2:127233703-127233704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553992311	chr2:127233712-127233713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76680335	chr2:127233720-127233721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127232800-127233200	Enhancers	Fetal Brain Male	brain
2	chr2:127232800-127233400	Enhancers	Fetal Heart	heart
3	chr2:127233200-127235400	Weak transcription	Fetal Brain Male	brain

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