Variant report

Variant	esv2520695
Chromosome Location	chr1:224738154-224741067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224726920..224729754-chr1:224737664..224739555,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536316062	chr1:224738164-224738165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554558236	chr1:224738169-224738170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200078053	chr1:224738178-224738179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192635514	chr1:224738198-224738199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537777425	chr1:224738214-224738215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556419149	chr1:224738315-224738316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577821306	chr1:224738371-224738372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545228728	chr1:224738392-224738393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115138290	chr1:224738393-224738394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553234641	chr1:224738409-224738410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369980940	chr1:224738422-224738423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2050625	chr1:224738453-224738454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560897553	chr1:224738459-224738460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375756988	chr1:224738506-224738507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34754420	chr1:224738537-224738538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531336603	chr1:224738561-224738562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543799940	chr1:224738579-224738580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369814880	chr1:224738582-224738583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565579911	chr1:224738600-224738601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532645595	chr1:224738634-224738635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183806093	chr1:224738700-224738701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373017741	chr1:224738713-224738714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547603871	chr1:224738864-224738865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565901040	chr1:224738884-224738885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530167195	chr1:224738926-224738927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548253456	chr1:224738956-224738957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569997394	chr1:224738985-224738986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537463600	chr1:224738986-224738987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544905268	chr1:224739040-224739041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558633847	chr1:224739085-224739086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571539783	chr1:224739139-224739140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565172252	chr1:224739144-224739145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80043092	chr1:224739145-224739146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188346453	chr1:224739155-224739156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192691107	chr1:224739156-224739157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145640146	chr1:224739162-224739163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376642753	chr1:224739190-224739191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576011579	chr1:224739192-224739193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554401441	chr1:224739202-224739203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564695696	chr1:224739211-224739212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572570765	chr1:224739233-224739234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541310700	chr1:224739292-224739293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10916635	chr1:224739322-224739323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530227424	chr1:224739359-224739360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112319499	chr1:224739373-224739374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548315717	chr1:224739411-224739412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1173252	chr1:224739421-224739422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184724166	chr1:224739435-224739436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189177619	chr1:224739437-224739438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570743594	chr1:224739465-224739466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Congenital diaphragmatic hernia	21085971	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224731600-224746400	Weak transcription	Psoas Muscle	Psoas
2	chr1:224734800-224741200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:224736800-224746400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:224740000-224762200	Weak transcription	Ovary	ovary
5	chr1:224741000-224741200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:224741000-224741400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:224741000-224741400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:224741000-224742000	Enhancers	NHDF-Ad	bronchial

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