Variant report

Variant	esv3402176
Chromosome Location	chr1:225522454-225524927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 292 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541140606	chr1:225522493-225522494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186737734	chr1:225522538-225522539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192367351	chr1:225522539-225522540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537547755	chr1:225522574-225522575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141792910	chr1:225522580-225522581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71574528	chr1:225522582-225522583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11584909	chr1:225522584-225522585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11584910	chr1:225522586-225522587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72750819	chr1:225522610-225522611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58202867	chr1:225522611-225522612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11586590	chr1:225522616-225522617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76179936	chr1:225522640-225522641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185497860	chr1:225522658-225522659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147798461	chr1:225522667-225522668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367934576	chr1:225522668-225522669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530113536	chr1:225522670-225522671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542124581	chr1:225522680-225522681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549994348	chr1:225522703-225522704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563328378	chr1:225522714-225522715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11584938	chr1:225522722-225522723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201666115	chr1:225522740-225522741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11590448	chr1:225522741-225522742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538864609	chr1:225522744-225522745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11585365	chr1:225522745-225522746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190753476	chr1:225522748-225522749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192896850	chr1:225522753-225522754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545533403	chr1:225522756-225522757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11584941	chr1:225522768-225522769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370123953	chr1:225522783-225522784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552453288	chr1:225522793-225522794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11590451	chr1:225522796-225522797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556861846	chr1:225522801-225522802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs11584943	chr1:225522805-225522806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565701825	chr1:225522807-225522808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs185451923	chr1:225522808-225522809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148690668	chr1:225522809-225522810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561694975	chr1:225522811-225522812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs11590852	chr1:225522812-225522813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11585736	chr1:225522814-225522815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188515211	chr1:225522815-225522816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs142242917	chr1:225522819-225522820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs570114351	chr1:225522833-225522834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149028709	chr1:225522836-225522837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs375556605	chr1:225522840-225522841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs111068382	chr1:225522842-225522843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs28694262	chr1:225522846-225522847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552741968	chr1:225522847-225522848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570936599	chr1:225522849-225522850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371353636	chr1:225522851-225522852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200596987	chr1:225522854-225522855	ZNF genes & repeats	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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