Variant report

Variant	nsv981412
Chromosome Location	chr7:121167728-121169501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121165657..121169108-chr7:121169362..121172946,4	K562	blood:
2	chr7:121165657..121169108-chr7:121169362..121172946,4	K562	blood:
3	chr7:121169034..121171757-chr7:121172284..121174059,2	MCF-7	breast:
4	chr7:121169242..121171748-chr7:121184406..121186346,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575146716	chr7:121167737-121167738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544240490	chr7:121167750-121167751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561547947	chr7:121167752-121167753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186560845	chr7:121167775-121167776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150896732	chr7:121167785-121167786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190115690	chr7:121167829-121167830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549466983	chr7:121167840-121167841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1528351	chr7:121167875-121167876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs139038513	chr7:121167991-121167992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569275496	chr7:121168017-121168018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531697555	chr7:121168037-121168038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372230703	chr7:121168083-121168084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571946007	chr7:121168115-121168116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567218306	chr7:121168143-121168144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183088615	chr7:121168185-121168186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552857103	chr7:121168205-121168206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571078413	chr7:121168261-121168262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538474760	chr7:121168294-121168295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555603295	chr7:121168325-121168326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575276156	chr7:121168339-121168340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544208125	chr7:121168359-121168360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554653766	chr7:121168370-121168371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553809681	chr7:121168428-121168429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187932523	chr7:121168478-121168479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540891748	chr7:121168526-121168527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28485397	chr7:121168562-121168563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113493542	chr7:121168582-121168583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28578522	chr7:121168661-121168662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147179199	chr7:121168691-121168692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373468234	chr7:121168694-121168695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193199576	chr7:121168731-121168732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140381007	chr7:121168739-121168740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538839464	chr7:121168767-121168768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527681280	chr7:121168773-121168774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371472413	chr7:121168780-121168781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73225244	chr7:121168829-121168830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10280640	chr7:121168854-121168855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566665992	chr7:121168866-121168867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578238135	chr7:121168953-121168954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375795134	chr7:121168989-121168990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144697863	chr7:121168997-121168998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183330491	chr7:121169006-121169007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113300252	chr7:121169025-121169026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576071987	chr7:121169028-121169029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7795140	chr7:121169049-121169050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs188039224	chr7:121169062-121169063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192412680	chr7:121169066-121169067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554717191	chr7:121169077-121169078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372818191	chr7:121169118-121169119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183883826	chr7:121169164-121169165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121162400-121168600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:121162800-121170400	Weak transcription	Fetal Brain Male	brain
3	chr7:121165600-121170000	Weak transcription	Adipose Nuclei	Adipose
4	chr7:121165800-121168800	Weak transcription	NHDF-Ad	bronchial
5	chr7:121165800-121169000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:121165800-121170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:121166200-121168800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:121166200-121169600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:121167000-121167800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:121167800-121168400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:121167800-121169600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:121168000-121170000	Weak transcription	Stomach Mucosa	stomach
13	chr7:121168600-121168800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:121168800-121169600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:121168800-121170000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:121168800-121170000	Enhancers	HSMM	muscle
17	chr7:121168800-121170000	Enhancers	NHDF-Ad	bronchial
18	chr7:121169000-121169200	Enhancers	HMEC	breast
19	chr7:121169000-121170000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:121169000-121171600	Enhancers	HUVEC	blood vessel
21	chr7:121169000-121171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:121169200-121169800	Weak transcription	HMEC	breast
23	chr7:121169200-121170000	Enhancers	GM12878-XiMat	blood
24	chr7:121169200-121170000	Enhancers	Osteobl	bone
25	chr7:121169200-121171800	Enhancers	HSMMtube	muscle

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