Variant report

Variant	nsv1026295
Chromosome Location	chr7:3485871-3505092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1156 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1156 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11977306	chr7:3485871-3485872	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538732595	chr7:3485879-3485880	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534586150	chr7:3485882-3485883	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554765129	chr7:3485902-3485903	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574581913	chr7:3485911-3485912	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537229278	chr7:3485958-3485959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568205308	chr7:3485972-3485973	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184860552	chr7:3485973-3485974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190051908	chr7:3485979-3485980	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149182538	chr7:3485997-3485998	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146733105	chr7:3486011-3486012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138755718	chr7:3486012-3486013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73293185	chr7:3486034-3486035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535504641	chr7:3486074-3486075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550905712	chr7:3486075-3486076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530276687	chr7:3486085-3486086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142751901	chr7:3486088-3486089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115672367	chr7:3486111-3486112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569460403	chr7:3486183-3486184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532200816	chr7:3486186-3486187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552227698	chr7:3486190-3486191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147363590	chr7:3486196-3486197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565505428	chr7:3486218-3486219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534596752	chr7:3486222-3486223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181755454	chr7:3486228-3486229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147970783	chr7:3486256-3486257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536856498	chr7:3486259-3486260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556690498	chr7:3486274-3486275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184751043	chr7:3486287-3486288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372743638	chr7:3486311-3486312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538709169	chr7:3486327-3486328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189670936	chr7:3486342-3486343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181515940	chr7:3486349-3486350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1357309	chr7:3486358-3486359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs561464319	chr7:3486361-3486362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575037541	chr7:3486374-3486375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544034149	chr7:3486403-3486404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563845401	chr7:3486413-3486414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1357310	chr7:3486507-3486508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552337925	chr7:3486517-3486518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559379459	chr7:3486528-3486529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536248384	chr7:3486582-3486583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185261751	chr7:3486614-3486615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530252260	chr7:3486629-3486630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528123104	chr7:3486645-3486646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73293189	chr7:3486652-3486653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114046019	chr7:3486658-3486659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549725522	chr7:3486681-3486682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374817522	chr7:3486699-3486700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550374437	chr7:3486785-3486786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3479600-3492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3480000-3508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:3485200-3486000	Strong transcription	HSMM	muscle
4	chr7:3485600-3486000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
5	chr7:3486000-3486400	Weak transcription	HSMM	muscle
6	chr7:3486000-3495200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:3486400-3486800	Enhancers	HSMM	muscle
8	chr7:3486400-3487200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:3486800-3487600	Weak transcription	HSMM	muscle
10	chr7:3487600-3489000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:3487600-3489000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:3488400-3488800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:3488400-3489000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:3488400-3489000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:3488400-3489000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:3488400-3489000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:3488600-3489000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:3488600-3489000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:3488600-3489000	Enhancers	Fetal Lung	lung
20	chr7:3489000-3490800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:3489000-3492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:3489000-3495600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:3489000-3496200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:3489000-3496400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:3489000-3496400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:3490800-3491000	Enhancers	Aorta	Aorta
27	chr7:3490800-3491200	Enhancers	Pancreas	Pancrea
28	chr7:3490800-3491600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:3491000-3496400	Weak transcription	Aorta	Aorta
30	chr7:3491200-3491400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr7:3491200-3491400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
33	chr7:3491400-3492000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:3491800-3492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:3492000-3492200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr7:3492000-3494200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:3492200-3493000	Weak transcription	HSMM	muscle
38	chr7:3492200-3495000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:3492400-3492800	Enhancers	Spleen	Spleen
40	chr7:3492600-3493400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:3493000-3493600	Enhancers	HSMM	muscle
42	chr7:3493200-3493400	Enhancers	Fetal Muscle Leg	muscle
43	chr7:3493400-3496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:3493600-3506000	Weak transcription	HSMM	muscle
45	chr7:3494200-3495000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:3494400-3497400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:3495000-3497000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:3495200-3496000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:3495200-3496200	Enhancers	NH-A	brain
50	chr7:3495600-3496800	Enhancers	HUES48 Cell Line	embryonic stem cell

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