Variant report

Variant	nsv1024540
Chromosome Location	chr7:147105149-147138125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:147104454..147106953-chr7:147113755..147116042,2	MCF-7	breast:
2	chr7:147128910..147129532-chr7:147781183..147781749,2	MCF-7	breast:
3	chr7:147104454..147106953-chr7:147113755..147116042,2	MCF-7	breast:

Extended variants
information (count: 1115 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1115 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150111079	chr7:147105153-147105154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571770544	chr7:147105167-147105168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192570031	chr7:147105171-147105172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576037269	chr7:147105192-147105193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372485141	chr7:147105199-147105200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556220221	chr7:147105201-147105202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537223736	chr7:147105240-147105241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201010537	chr7:147105241-147105242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569677776	chr7:147105248-147105249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112943614	chr7:147105254-147105255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142983453	chr7:147105263-147105264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184143850	chr7:147105269-147105270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138413262	chr7:147105277-147105278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570642845	chr7:147105296-147105297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2620475	chr7:147105368-147105369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188476234	chr7:147105391-147105392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74612375	chr7:147105407-147105408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369268140	chr7:147105411-147105412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577761496	chr7:147105436-147105437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543302573	chr7:147105483-147105484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563783867	chr7:147105531-147105532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530215654	chr7:147105570-147105571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574144452	chr7:147105575-147105576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543163148	chr7:147105582-147105583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559734756	chr7:147105590-147105591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13247851	chr7:147105598-147105599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552040773	chr7:147105602-147105603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180788318	chr7:147105603-147105604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185056104	chr7:147105617-147105618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550928259	chr7:147105621-147105622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530973465	chr7:147105622-147105623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190250487	chr7:147105623-147105624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535150844	chr7:147105624-147105625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552559106	chr7:147105635-147105636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548673248	chr7:147105653-147105654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570981474	chr7:147105661-147105662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34163397	chr7:147105680-147105681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112811423	chr7:147105711-147105712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558032674	chr7:147105722-147105723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577890759	chr7:147105742-147105743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553489466	chr7:147105763-147105764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376814277	chr7:147105775-147105776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537237496	chr7:147105795-147105796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11770339	chr7:147105797-147105798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573881858	chr7:147105814-147105815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543101128	chr7:147105829-147105830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559925974	chr7:147105873-147105874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7803877	chr7:147105908-147105909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545098730	chr7:147105915-147105916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565557220	chr7:147105916-147105917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147095400-147120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:147097800-147107600	Weak transcription	NHDF-Ad	bronchial
3	chr7:147098800-147107800	Weak transcription	Osteobl	bone
4	chr7:147103800-147107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:147104200-147107600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:147104200-147107800	Weak transcription	HSMMtube	muscle
7	chr7:147104200-147108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:147104200-147108000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:147104200-147108000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:147104200-147108000	Weak transcription	HSMM	muscle
11	chr7:147105800-147106200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:147106200-147108800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:147107600-147108400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:147107600-147108400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:147107600-147110400	Enhancers	NHDF-Ad	bronchial
16	chr7:147107800-147110200	Enhancers	HSMMtube	muscle
17	chr7:147107800-147111400	Enhancers	Osteobl	bone
18	chr7:147108000-147108200	Enhancers	Fetal Muscle Leg	muscle
19	chr7:147108000-147110000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:147108000-147110200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:147108000-147110200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:147108000-147110200	Enhancers	HSMM	muscle
23	chr7:147108000-147111200	Enhancers	Adipose Nuclei	Adipose
24	chr7:147108200-147109200	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:147108400-147108800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:147108400-147109000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:147108400-147111000	Enhancers	Fetal Lung	lung
28	chr7:147108600-147109800	Enhancers	NHLF	lung
29	chr7:147108800-147109400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:147108800-147111000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:147108800-147111200	Enhancers	Fetal Stomach	stomach
32	chr7:147109000-147110200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:147109200-147109400	Enhancers	Ovary	ovary
34	chr7:147109200-147109600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:147109200-147109600	Enhancers	Fetal Muscle Trunk	muscle
36	chr7:147109200-147109800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:147109200-147109800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:147109200-147110200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:147109200-147111000	Enhancers	HMEC	breast
40	chr7:147109200-147111400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:147109200-147111400	Enhancers	Fetal Muscle Leg	muscle
42	chr7:147109400-147109600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:147109400-147109800	Enhancers	Placenta	Placenta
44	chr7:147109400-147110200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:147109400-147110800	Enhancers	NH-A	brain
46	chr7:147109600-147110000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:147109600-147110600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:147109600-147110800	Weak transcription	Ovary	ovary
49	chr7:147109800-147110000	Flanking Active TSS	NHLF	lung
50	chr7:147109800-147110200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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