Variant report

Variant	esv1807445
Chromosome Location	chr7:147283270-147284989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6464829	chr7:147283270-147283271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149955341	chr7:147283271-147283272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570650362	chr7:147283294-147283295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180725100	chr7:147283329-147283330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6943922	chr7:147283339-147283340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6947921	chr7:147283342-147283343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535526558	chr7:147283347-147283348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386719089	chr7:147283375-147283376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6943947	chr7:147283376-147283377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145024295	chr7:147283384-147283385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6947944	chr7:147283398-147283399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs578172598	chr7:147283410-147283411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544064857	chr7:147283417-147283418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563839090	chr7:147283433-147283434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386719090	chr7:147283440-147283441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79448720	chr7:147283442-147283443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576229217	chr7:147283444-147283445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112997649	chr7:147283450-147283451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73466987	chr7:147283468-147283469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561616491	chr7:147283488-147283489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs66477973	chr7:147283521-147283522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs67284428	chr7:147283525-147283526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564438100	chr7:147283534-147283535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533022533	chr7:147283543-147283544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112592442	chr7:147283599-147283600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111306967	chr7:147283604-147283605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72503612	chr7:147283605-147283606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199721916	chr7:147283613-147283614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375042446	chr7:147283614-147283615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199633451	chr7:147283615-147283616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200578851	chr7:147283616-147283617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75957951	chr7:147283617-147283618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199811578	chr7:147283618-147283619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149080051	chr7:147283619-147283620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76455709	chr7:147283620-147283621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111302942	chr7:147283623-147283624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151155716	chr7:147283637-147283638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28497534	chr7:147283639-147283640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74361421	chr7:147283643-147283644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78346721	chr7:147283647-147283648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78397505	chr7:147283651-147283652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74913909	chr7:147283655-147283656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78288861	chr7:147283659-147283660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78231582	chr7:147283663-147283664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147499730	chr7:147283670-147283671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201312265	chr7:147283679-147283680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs202232729	chr7:147283681-147283682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182616404	chr7:147283695-147283696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188129849	chr7:147283735-147283736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549497132	chr7:147283794-147283795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147268000-147283800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:147278400-147283800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:147281000-147284400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:147281400-147284800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:147281400-147284800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:147281600-147284600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:147282200-147283600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:147282200-147283600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:147282800-147284600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:147283000-147283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:147283000-147284400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:147283000-147284800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:147283200-147283800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:147283200-147284000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:147283600-147284000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:147283600-147284400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:147283800-147284200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:147283800-147284200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:147283800-147284400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:147283800-147284600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:147283800-147284800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:147284000-147284200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:147284000-147284600	Enhancers	Fetal Kidney	kidney
24	chr7:147284400-147285600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:147284400-147285800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:147284400-147286000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:147284400-147297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:147284600-147286000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:147284800-147285800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:147284800-147285800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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