Variant report

Variant	esv1805842
Chromosome Location	chr1:225208247-225217265
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	chr1:225208646..225211614-chr1:225214288..225217124,2	K562	blood:
2	chr1:225208646..225211614-chr1:225214288..225217124,2	K562	blood:

Extended variants
information (count: 312 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2449275	chr1:225208247-225208248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537374571	chr1:225208367-225208368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114286545	chr1:225208381-225208382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576233347	chr1:225208389-225208390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538712622	chr1:225208403-225208404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558083709	chr1:225208404-225208405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74451757	chr1:225208409-225208410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370316041	chr1:225208418-225208419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186698255	chr1:225208421-225208422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574493781	chr1:225208437-225208438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76513223	chr1:225208461-225208462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563503841	chr1:225208463-225208464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112017184	chr1:225208481-225208482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546159874	chr1:225208503-225208504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1905113	chr1:225208515-225208516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532356029	chr1:225208557-225208558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142197340	chr1:225208588-225208589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573987237	chr1:225208594-225208595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559552716	chr1:225208601-225208602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146768523	chr1:225208629-225208630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148726680	chr1:225208715-225208716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548350077	chr1:225208716-225208717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189569836	chr1:225208773-225208774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537335953	chr1:225208780-225208781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375648556	chr1:225208790-225208791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182266250	chr1:225208802-225208803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187542719	chr1:225208803-225208804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534290915	chr1:225208824-225208825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552956970	chr1:225208829-225208830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190862075	chr1:225208907-225208908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537345195	chr1:225208933-225208934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184243984	chr1:225208939-225208940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557185631	chr1:225208988-225208989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77855878	chr1:225209005-225209006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2501116	chr1:225209023-225209024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188299510	chr1:225209039-225209040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573107982	chr1:225209067-225209068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193191588	chr1:225209077-225209078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559724736	chr1:225209090-225209091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530119558	chr1:225209101-225209102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548315502	chr1:225209180-225209181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1580956	chr1:225209189-225209190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530961735	chr1:225209236-225209237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182830709	chr1:225209263-225209264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531744407	chr1:225209304-225209305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1847911	chr1:225209355-225209356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571031793	chr1:225209400-225209401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140338104	chr1:225209406-225209407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76243018	chr1:225209445-225209446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144110559	chr1:225209447-225209448	Weak transcription	n/a	n/a	Overlapped CNVs	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225204000-225217400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:225205600-225215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:225205600-225235600	Weak transcription	Pancreas	Pancrea
4	chr1:225211200-225226800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:225212800-225213000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr1:225213000-225215200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:225214000-225214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:225214200-225214400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:225214400-225216400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:225215200-225215600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr1:225215200-225215800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:225215600-225242200	Weak transcription	Primary hematopoietic stem cells	blood

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