Variant report

Variant	esv3371455
Chromosome Location	chr7:140362383-140366581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140353438..140355331-chr7:140361496..140363053,2	K562	blood:
2	chr7:140366280..140367939-chr7:140371289..140372844,2	MCF-7	breast:
3	chr7:140365461..140369460-chr7:140370034..140373881,3	K562	blood:

Variant related genes	Relation type
ENSG00000133597	chromatin interactions
ENSG00000146966	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570436606	chr7:140365467-140365468	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368449609	chr7:140365479-140365480	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184018536	chr7:140365491-140365492	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537821706	chr7:140365494-140365495	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556534578	chr7:140365532-140365533	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568333620	chr7:140365541-140365542	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535334246	chr7:140365582-140365583	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs2930331	chr7:140365611-140365612	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs188900923	chr7:140365649-140365650	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539513535	chr7:140365662-140365663	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561358839	chr7:140365713-140365714	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576054954	chr7:140365719-140365720	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543403518	chr7:140365777-140365778	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200734792	chr7:140365846-140365847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373749576	chr7:140365882-140365883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs2364393	chr7:140365901-140365902	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371045266	chr7:140365944-140365945	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs181692575	chr7:140365955-140365956	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2364394	chr7:140365964-140365965	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186159235	chr7:140365976-140365977	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552331518	chr7:140365987-140365988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564156366	chr7:140366019-140366020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531373850	chr7:140366046-140366047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190510646	chr7:140366085-140366086	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs115851071	chr7:140366102-140366103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182443211	chr7:140366144-140366145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547288713	chr7:140366147-140366148	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565610254	chr7:140366169-140366170	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185833470	chr7:140366205-140366206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs117503217	chr7:140366206-140366207	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557863853	chr7:140366211-140366212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565277651	chr7:140366222-140366223	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77879752	chr7:140366242-140366243	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532574694	chr7:140366274-140366275	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547990954	chr7:140366275-140366276	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191074329	chr7:140366280-140366281	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555694040	chr7:140366291-140366292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369958439	chr7:140366416-140366417	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182653902	chr7:140366463-140366464	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs7794857	chr7:140366465-140366466	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559775855	chr7:140366526-140366527	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	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
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140365800-140372000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:140366400-140367400	Enhancers	Placenta Amnion	Placenta Amnion

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