Variant report

Variant	esv1795068
Chromosome Location	chr7:145308227-145331508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:145329048..145330913-chr7:145333895..145335425,2	K562	blood:
2	chr7:145327982..145331284-chr7:145331722..145336898,4	K562	blood:
3	chr7:145320589..145323367-chr7:145325718..145327864,2	K562	blood:
4	chr7:145320589..145323367-chr7:145325718..145327864,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139719596	chr7:145320846-145320847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371086819	chr7:145320850-145320851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551710862	chr7:145320867-145320868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570111340	chr7:145320910-145320911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115855290	chr7:145320921-145320922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550977323	chr7:145320961-145320962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569562269	chr7:145321102-145321103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536410163	chr7:145321152-145321153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555210300	chr7:145321154-145321155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566923639	chr7:145321181-145321182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10234759	chr7:145321200-145321201	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs186209111	chr7:145321237-145321238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116802783	chr7:145321259-145321260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148293374	chr7:145321279-145321280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541850515	chr7:145321286-145321287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556153957	chr7:145321293-145321294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79062220	chr7:145321304-145321305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149960176	chr7:145321350-145321351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559921025	chr7:145321357-145321358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12112078	chr7:145321374-145321375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557360159	chr7:145321405-145321406	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545486125	chr7:145321434-145321435	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115092170	chr7:145321510-145321511	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191063027	chr7:145321533-145321534	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79238258	chr7:145321592-145321593	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142328514	chr7:145321611-145321612	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530420899	chr7:145321619-145321620	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548945654	chr7:145321621-145321622	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547329844	chr7:145321680-145321681	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567060565	chr7:145321742-145321743	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534427202	chr7:145321753-145321754	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181366683	chr7:145321765-145321766	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146806245	chr7:145321767-145321768	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs850480	chr7:145321789-145321790	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556533583	chr7:145321807-145321808	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368319583	chr7:145321819-145321820	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535360464	chr7:145321838-145321839	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186785651	chr7:145321912-145321913	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566179674	chr7:145321927-145321928	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571896114	chr7:145321941-145321942	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545621364	chr7:145321951-145321952	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563999111	chr7:145321954-145321955	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140620805	chr7:145321968-145321969	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545915920	chr7:145321978-145321979	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114057775	chr7:145322057-145322058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561720210	chr7:145322084-145322085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145612338	chr7:145322087-145322088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548882770	chr7:145322115-145322116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147513388	chr7:145322126-145322127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560793034	chr7:145322130-145322131	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145320800-145321400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:145321200-145322600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:145321400-145322000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:145322000-145322800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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