Variant report

Variant	esv18813
Chromosome Location	chr1:228158558-228161863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 206 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566859546	chr1:228158590-228158591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182188975	chr1:228158620-228158621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555525360	chr1:228158654-228158655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567643643	chr1:228158661-228158662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538519334	chr1:228158675-228158676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186379962	chr1:228158679-228158680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556514131	chr1:228158691-228158692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529926148	chr1:228158694-228158695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577978946	chr1:228158711-228158712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544881635	chr1:228158725-228158726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553894132	chr1:228158742-228158743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572088996	chr1:228158787-228158788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191917272	chr1:228158800-228158801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558466566	chr1:228158808-228158809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575645870	chr1:228158850-228158851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542984752	chr1:228158851-228158852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183740391	chr1:228158868-228158869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533634556	chr1:228158878-228158879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188265628	chr1:228158883-228158884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113212980	chr1:228158891-228158892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192920357	chr1:228158911-228158912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577303584	chr1:228158916-228158917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376205412	chr1:228158917-228158918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534353079	chr1:228158920-228158921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182817948	chr1:228158950-228158951	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs147530333	chr1:228158969-228158970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144686119	chr1:228158981-228158982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369534743	chr1:228158984-228158985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567729999	chr1:228158990-228158991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538266737	chr1:228158991-228158992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372296476	chr1:228159023-228159024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375515335	chr1:228159029-228159030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571577042	chr1:228159040-228159041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538917841	chr1:228159098-228159099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553734193	chr1:228159103-228159104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572186717	chr1:228159106-228159107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536024018	chr1:228159107-228159108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562519970	chr1:228159123-228159124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200489028	chr1:228159125-228159126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554263870	chr1:228159131-228159132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575683452	chr1:228159138-228159139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543021977	chr1:228159139-228159140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61825102	chr1:228159140-228159141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6693676	chr1:228159154-228159155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79592170	chr1:228159177-228159178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368734648	chr1:228159211-228159212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545661247	chr1:228159213-228159214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373793055	chr1:228159259-228159260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527901995	chr1:228159260-228159261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377492528	chr1:228159291-228159292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228154800-228159600	Weak transcription	Placenta	Placenta
2	chr1:228156600-228163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:228158200-228159400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:228158400-228159600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:228159400-228161200	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:228159600-228160200	Enhancers	Placenta	Placenta
7	chr1:228159600-228161200	Enhancers	Fetal Muscle Leg	muscle
8	chr1:228159600-228162000	Enhancers	Fetal Stomach	stomach
9	chr1:228160200-228160600	Weak transcription	Placenta	Placenta
10	chr1:228160600-228161000	Enhancers	Placenta	Placenta
11	chr1:228160600-228161200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:228161200-228161600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:228161600-228162000	Enhancers	Fetal Muscle Trunk	muscle

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