Variant report

Variant	esv3370511
Chromosome Location	chr1:225520629-225525227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 357 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534577700	chr1:225520636-225520637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553887233	chr1:225520643-225520644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572357736	chr1:225520682-225520683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542800162	chr1:225520698-225520699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78936812	chr1:225520713-225520714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79339727	chr1:225520722-225520723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191510022	chr1:225520738-225520739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544007131	chr1:225520756-225520757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368642716	chr1:225520787-225520788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565447726	chr1:225520825-225520826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532870522	chr1:225520928-225520929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541706923	chr1:225520944-225520945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559091699	chr1:225520970-225520971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529692260	chr1:225520996-225520997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534710784	chr1:225521009-225521010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113335252	chr1:225521066-225521067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542447006	chr1:225521078-225521079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs41268715	chr1:225521101-225521102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563381872	chr1:225521135-225521136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530646508	chr1:225521183-225521184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561127276	chr1:225521188-225521189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565240193	chr1:225521233-225521234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16844689	chr1:225521282-225521283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74147198	chr1:225521336-225521337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534605265	chr1:225521337-225521338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139221087	chr1:225521419-225521420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536886463	chr1:225521501-225521502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12036832	chr1:225521544-225521545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183768194	chr1:225521578-225521579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375725858	chr1:225521602-225521603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369825274	chr1:225521642-225521643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576629798	chr1:225521666-225521667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576721671	chr1:225521721-225521722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537507332	chr1:225521812-225521813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559206576	chr1:225521935-225521936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149868557	chr1:225521964-225521965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4653419	chr1:225521982-225521983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559988976	chr1:225522020-225522021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77707171	chr1:225522037-225522038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541788155	chr1:225522062-225522063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530219597	chr1:225522164-225522165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139749663	chr1:225522170-225522171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562917154	chr1:225522181-225522182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543816728	chr1:225522205-225522206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187956858	chr1:225522251-225522252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143891019	chr1:225522311-225522312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563985848	chr1:225522318-225522319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202097117	chr1:225522323-225522324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191732365	chr1:225522335-225522336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546612091	chr1:225522337-225522338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Acute lymphoblastic leukemia	21098271	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
Developmental delay	21147756	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
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225507200-225522800	Weak transcription	Fetal Kidney	kidney
2	chr1:225522800-225523200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:225522800-225523200	ZNF genes & repeats	Fetal Kidney	kidney
4	chr1:225523200-225525600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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