Variant report

Variant	nsv981852
Chromosome Location	chr7:119811053-119814989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:119809230..119812304-chr7:119814174..119818004,3	K562	blood:
2	chr7:119812455..119815442-chr7:119816683..119818923,3	K562	blood:
3	chr7:119809230..119812304-chr7:119814174..119818004,3	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569923496	chr7:119811135-119811136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34439222	chr7:119811165-119811166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73722529	chr7:119811193-119811194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113401610	chr7:119811222-119811223	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535763438	chr7:119811258-119811259	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556717843	chr7:119811300-119811301	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189800838	chr7:119811326-119811327	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78975720	chr7:119811341-119811342	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141544253	chr7:119811346-119811347	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574125562	chr7:119811362-119811363	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146364081	chr7:119811385-119811386	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540384361	chr7:119811392-119811393	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138493321	chr7:119811409-119811410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7786492	chr7:119811464-119811465	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557555655	chr7:119811465-119811466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183078031	chr7:119811514-119811515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531371091	chr7:119811517-119811518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577362098	chr7:119811573-119811574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375742567	chr7:119811580-119811581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557126226	chr7:119811609-119811610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188023485	chr7:119811661-119811662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562160715	chr7:119811662-119811663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527727339	chr7:119811808-119811809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143047121	chr7:119811821-119811822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564424195	chr7:119811833-119811834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533698990	chr7:119811876-119811877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191807152	chr7:119811931-119811932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570262585	chr7:119811932-119811933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535653689	chr7:119811945-119811946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112564175	chr7:119811969-119811970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567809118	chr7:119811986-119811987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533604455	chr7:119812031-119812032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553356333	chr7:119812034-119812035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576737056	chr7:119812133-119812134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147071540	chr7:119812171-119812172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139449355	chr7:119812282-119812283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543560981	chr7:119812293-119812294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35790980	chr7:119812311-119812312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs207468506	chr7:119812348-119812349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112083454	chr7:119812388-119812389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576232879	chr7:119812412-119812413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542035955	chr7:119812423-119812424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187817640	chr7:119812446-119812447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192632936	chr7:119812452-119812453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184987091	chr7:119812481-119812482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144472755	chr7:119812482-119812483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17593342	chr7:119812492-119812493	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs35211462	chr7:119812518-119812519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550474947	chr7:119812530-119812531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148426165	chr7:119812577-119812578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	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
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119808600-119811400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:119808600-119812400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:119808600-119820600	Weak transcription	NHLF	lung
4	chr7:119808800-119811600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:119809800-119812000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:119810200-119812000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:119810600-119812400	Enhancers	NHEK	skin
8	chr7:119810800-119811800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:119810800-119812000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:119810800-119812000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:119810800-119812000	Enhancers	HMEC	breast
12	chr7:119810800-119812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:119811000-119811200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:119811000-119811600	Enhancers	Colon Smooth Muscle	Colon
15	chr7:119811200-119811400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:119811200-119812000	Enhancers	HSMM	muscle
17	chr7:119811400-119811600	Enhancers	Adipose Nuclei	Adipose
18	chr7:119811400-119812000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:119811400-119812800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:119811600-119811800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:119811800-119813800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:119812000-119813800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:119812800-119813600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:119813600-119813800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:119813800-119814000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:119813800-119814000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:119813800-119819400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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