Variant report

Variant	esv3326967
Chromosome Location	chr2:178708956-178711454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540478247	chr2:178708959-178708960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75806370	chr2:178708961-178708962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35586165	chr2:178709029-178709030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552478672	chr2:178709036-178709037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368838542	chr2:178709066-178709067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144374057	chr2:178709089-178709090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373020062	chr2:178709097-178709098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192674734	chr2:178709151-178709152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184290206	chr2:178709162-178709163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114578469	chr2:178709206-178709207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189054522	chr2:178709256-178709257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567262526	chr2:178709258-178709259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151172012	chr2:178709269-178709270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546377062	chr2:178709272-178709273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13430954	chr2:178709273-178709274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538823150	chr2:178709278-178709279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181770265	chr2:178709298-178709299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575581911	chr2:178709327-178709328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373360283	chr2:178709342-178709343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554909504	chr2:178709472-178709473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4338993	chr2:178709538-178709539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370692920	chr2:178709583-178709584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201267417	chr2:178709720-178709721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71423511	chr2:178709744-178709745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540767659	chr2:178709867-178709868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560360538	chr2:178709885-178709886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577399650	chr2:178709887-178709888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78275584	chr2:178709889-178709890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545951685	chr2:178709913-178709914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201073656	chr2:178709923-178709924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531846919	chr2:178710001-178710002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9679102	chr2:178710046-178710047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191549520	chr2:178710050-178710051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370440278	chr2:178710059-178710060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140736928	chr2:178710078-178710079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367665038	chr2:178710118-178710119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371590580	chr2:178710126-178710127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201168717	chr2:178710138-178710139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560987922	chr2:178710139-178710140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529637978	chr2:178710243-178710244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374496668	chr2:178710251-178710252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546710666	chr2:178710265-178710266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566411402	chr2:178710267-178710268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538859955	chr2:178710312-178710313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552354249	chr2:178710345-178710346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569182788	chr2:178710355-178710356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538183056	chr2:178710359-178710360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76857660	chr2:178710363-178710364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568468166	chr2:178710388-178710389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9677777	chr2:178710430-178710431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178699800-178716600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:178704000-178709000	Weak transcription	Pancreas	Pancrea
3	chr2:178708600-178709200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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