Variant report

Variant	esv19066
Chromosome Location	chr7:147271448-147285044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:147268729..147271690-chr7:147275946..147277676,2	K562	blood:
2	chr20:53098001..53098695-chr7:147280534..147281382,2	MCF-7	breast:
3	chr7:147268729..147271690-chr7:147275946..147277676,2	K562	blood:

Extended variants
information (count: 645 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547376815	chr7:147271449-147271450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181207102	chr7:147271453-147271454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186140024	chr7:147271454-147271455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113262948	chr7:147271455-147271456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550386212	chr7:147271456-147271457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570119094	chr7:147271483-147271484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537970444	chr7:147271492-147271493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189676662	chr7:147271524-147271525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554322372	chr7:147271585-147271586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142039386	chr7:147271590-147271591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2189999	chr7:147271643-147271644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146303652	chr7:147271648-147271649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577243104	chr7:147271693-147271694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199681326	chr7:147271728-147271729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397716285	chr7:147271730-147271731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114741907	chr7:147271741-147271742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181897369	chr7:147271757-147271758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556319068	chr7:147271763-147271764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186061039	chr7:147271788-147271789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542316358	chr7:147271792-147271793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562077716	chr7:147271842-147271843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190578588	chr7:147271945-147271946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565611426	chr7:147271979-147271980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183293556	chr7:147271998-147271999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139233558	chr7:147272001-147272002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188581947	chr7:147272017-147272018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563912475	chr7:147272034-147272035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529427498	chr7:147272043-147272044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150066611	chr7:147272054-147272055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568208678	chr7:147272126-147272127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145421099	chr7:147272143-147272144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547430996	chr7:147272184-147272185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191375899	chr7:147272185-147272186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9718902	chr7:147272201-147272202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9718903	chr7:147272205-147272206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137975569	chr7:147272276-147272277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374008638	chr7:147272277-147272278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9718637	chr7:147272316-147272317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200196135	chr7:147272323-147272324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201353974	chr7:147272325-147272326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368150557	chr7:147272326-147272327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs5006630	chr7:147272327-147272328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5006631	chr7:147272331-147272332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186832080	chr7:147272335-147272336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191242205	chr7:147272370-147272371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114478142	chr7:147272381-147272382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116406887	chr7:147272382-147272383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386719085	chr7:147272407-147272408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113524580	chr7:147272412-147272413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76679765	chr7:147272413-147272414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Glioblastoma multiforme	18628472	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147268000-147277400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:147268000-147283800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:147271200-147272000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:147271400-147272000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:147278400-147283800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:147280400-147282200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:147280800-147282200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:147281000-147282200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:147281000-147282400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:147281000-147284400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:147281400-147282000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:147281400-147284800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:147281400-147284800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:147281600-147282400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:147281600-147284600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:147281800-147282200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:147281800-147282200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:147281800-147282200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:147281800-147282200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:147281800-147282200	Enhancers	Gastric	stomach
21	chr7:147281800-147283000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:147282200-147283000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:147282200-147283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:147282200-147283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:147282200-147283600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:147282200-147283600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:147282400-147282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:147282400-147282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:147282800-147283200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:147282800-147284600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:147283000-147283200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr7:147283000-147283200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:147283000-147283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:147283000-147284400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:147283000-147284800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:147283200-147283800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:147283200-147284000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:147283600-147284000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:147283600-147284400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:147283800-147284200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr7:147283800-147284200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:147283800-147284400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:147283800-147284600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:147283800-147284800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:147284000-147284200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:147284000-147284600	Enhancers	Fetal Kidney	kidney
47	chr7:147284400-147285600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:147284400-147285800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:147284400-147286000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:147284400-147297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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