Variant report

Variant	esv3359355
Chromosome Location	chr1:225247629-225249677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556133563	chr1:225248809-225248810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577773291	chr1:225248819-225248820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538517927	chr1:225248867-225248868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554128053	chr1:225248870-225248871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573250842	chr1:225248902-225248903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs530933174	chr1:225248908-225248909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144631439	chr1:225248920-225248921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574096853	chr1:225248979-225248980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113581255	chr1:225248982-225248983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562899163	chr1:225248984-225248985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533586819	chr1:225248985-225248986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545350375	chr1:225248992-225248993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs188285683	chr1:225248993-225248994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs117492135	chr1:225248998-225248999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112961981	chr1:225248999-225249000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs193188001	chr1:225249005-225249006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182859421	chr1:225249017-225249018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111726126	chr1:225249020-225249021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369810489	chr1:225249024-225249025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs143412691	chr1:225249070-225249071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554091000	chr1:225249075-225249076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2449301	chr1:225249093-225249094	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534180619	chr1:225249108-225249109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546386344	chr1:225249146-225249147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140582821	chr1:225249157-225249158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs188281992	chr1:225249158-225249159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556641853	chr1:225249164-225249165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566457938	chr1:225249172-225249173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs2449302	chr1:225249174-225249175	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191265081	chr1:225249202-225249203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560404573	chr1:225249207-225249208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183751164	chr1:225249208-225249209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542919700	chr1:225249239-225249240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115495456	chr1:225249240-225249241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531355519	chr1:225249260-225249261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188478387	chr1:225249300-225249301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571352901	chr1:225249301-225249302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532196514	chr1:225249303-225249304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547656593	chr1:225249304-225249305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113800441	chr1:225249318-225249319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs57320908	chr1:225249343-225249344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192461270	chr1:225249347-225249348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs2501112	chr1:225249367-225249368	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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
Congenital diaphragmatic hernia	21525063	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225248800-225249400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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