Variant report

Variant	esv3420900
Chromosome Location	chr7:147282169-147283417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139849014	chr7:147282179-147282180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577284540	chr7:147282199-147282200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546252925	chr7:147282213-147282214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143179401	chr7:147282217-147282218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576065260	chr7:147282220-147282221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs727639	chr7:147282250-147282251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562070415	chr7:147282268-147282269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs727640	chr7:147282327-147282328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541278933	chr7:147282328-147282329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146651770	chr7:147282329-147282330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532110758	chr7:147282396-147282397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55821739	chr7:147282402-147282403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189030594	chr7:147282439-147282440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28522874	chr7:147282460-147282461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548188832	chr7:147282547-147282548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs727641	chr7:147282567-147282568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12669822	chr7:147282619-147282620	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs61581405	chr7:147282662-147282663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570583934	chr7:147282680-147282681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539245277	chr7:147282708-147282709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28726668	chr7:147282720-147282721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11339224	chr7:147282722-147282723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397890138	chr7:147282726-147282727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541855081	chr7:147282740-147282741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555307045	chr7:147282759-147282760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139460234	chr7:147282781-147282782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377299783	chr7:147282841-147282842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200430081	chr7:147282850-147282851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59749355	chr7:147282853-147282854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557295177	chr7:147282867-147282868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10550468	chr7:147282868-147282869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200587601	chr7:147282869-147282870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80144577	chr7:147282881-147282882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112174813	chr7:147282882-147282883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531687141	chr7:147282883-147282884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199793599	chr7:147282887-147282888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564534559	chr7:147282897-147282898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200805507	chr7:147282940-147282941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533615787	chr7:147282966-147282967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6464827	chr7:147282971-147282972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185516827	chr7:147282984-147282985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6464828	chr7:147283018-147283019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548225660	chr7:147283093-147283094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190856644	chr7:147283201-147283202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6464829	chr7:147283270-147283271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149955341	chr7:147283271-147283272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570650362	chr7:147283294-147283295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180725100	chr7:147283329-147283330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6943922	chr7:147283339-147283340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs6947921	chr7:147283342-147283343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:33 , 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	chr7:147280400-147282200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:147280800-147282200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:147281000-147282200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:147281000-147282400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:147281000-147284400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:147281400-147284800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:147281400-147284800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:147281600-147282400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:147281600-147284600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:147281800-147282200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:147281800-147282200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:147281800-147282200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:147281800-147282200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:147281800-147282200	Enhancers	Gastric	stomach
17	chr7:147281800-147283000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:147282200-147283000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:147282200-147283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:147282200-147283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:147282200-147283600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:147282200-147283600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:147282400-147282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:147282400-147282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:147282800-147283200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:147282800-147284600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:147283000-147283200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr7:147283000-147283200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:147283000-147283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:147283000-147284400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:147283000-147284800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:147283200-147283800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:147283200-147284000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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