Variant report

Variant	esv3350675
Chromosome Location	chr7:150987666-150988222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150987600..150989961-chr7:150999462..151001040,2	MCF-7	breast:
2	chr7:150983865..150985433-chr7:150985539..150988444,2	K562	blood:
3	chr7:150943021..150944540-chr7:150987056..150989396,2	K562	blood:

Variant related genes	Relation type
ENSG00000082014	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138191993	chr7:150987703-150987704	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372820851	chr7:150987709-150987710	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186800083	chr7:150987717-150987718	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150190592	chr7:150987721-150987722	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10224895	chr7:150987740-150987741	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191320463	chr7:150987743-150987744	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10268058	chr7:150987744-150987745	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150046335	chr7:150987747-150987748	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10224900	chr7:150987750-150987751	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566243273	chr7:150987752-150987753	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10268063	chr7:150987763-150987764	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551979651	chr7:150987766-150987767	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111631299	chr7:150987779-150987780	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557333279	chr7:150987782-150987783	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72080670	chr7:150987783-150987784	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201714429	chr7:150987786-150987787	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571844408	chr7:150987796-150987797	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537788819	chr7:150987803-150987804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs398006758	chr7:150987810-150987811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10268182	chr7:150987811-150987812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148484839	chr7:150987813-150987814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10225012	chr7:150987815-150987816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10268187	chr7:150987821-150987822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13234685	chr7:150987829-150987830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs13221929	chr7:150987830-150987831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs13234686	chr7:150987837-150987838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs13234688	chr7:150987841-150987842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75334855	chr7:150987843-150987844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567620608	chr7:150987845-150987846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs13221938	chr7:150987855-150987856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536668221	chr7:150987871-150987872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188636029	chr7:150987901-150987902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10238747	chr7:150987904-150987905	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181667047	chr7:150987910-150987911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185313853	chr7:150987917-150987918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575358293	chr7:150987965-150987966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544447943	chr7:150987966-150987967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546442667	chr7:150987967-150987968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560869931	chr7:150987969-150987970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111946064	chr7:150988008-150988009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190559642	chr7:150988052-150988053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182342869	chr7:150988071-150988072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185265605	chr7:150988076-150988077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558321799	chr7:150988123-150988124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532281163	chr7:150988132-150988133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73169696	chr7:150988133-150988134	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189678187	chr7:150988134-150988135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531018207	chr7:150988136-150988137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147212709	chr7:150988145-150988146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567977510	chr7:150988148-150988149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150986400-150987800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:150987800-150988800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:150988200-150988800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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