Variant report

Variant	nsv887335
Chromosome Location	chr7:3700352-3766819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
2	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
3	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
4	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
5	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
6	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
7	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
8	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
9	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
10	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
11	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:

No data

Extended variants
information (count: 3972 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3972 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2217608	chr7:3700352-3700353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201011937	chr7:3700384-3700385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547472440	chr7:3700400-3700401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116362496	chr7:3700464-3700465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542096983	chr7:3700489-3700490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555421290	chr7:3700497-3700498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568442365	chr7:3700519-3700520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535638447	chr7:3700549-3700550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76416846	chr7:3700557-3700558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141119728	chr7:3700612-3700613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191293276	chr7:3700621-3700622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547602297	chr7:3700635-3700636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564136031	chr7:3700650-3700651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533083227	chr7:3700656-3700657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114423374	chr7:3700667-3700668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114682056	chr7:3700704-3700705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528722924	chr7:3700722-3700723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548863054	chr7:3700729-3700730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10485876	chr7:3700760-3700761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144984691	chr7:3700762-3700763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151013872	chr7:3700779-3700780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539163287	chr7:3700806-3700807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376374587	chr7:3700842-3700843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7800534	chr7:3700870-3700871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs180828843	chr7:3700879-3700880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7800550	chr7:3700896-3700897	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11972369	chr7:3700902-3700903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575626669	chr7:3700915-3700916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373383093	chr7:3700921-3700922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537098972	chr7:3700926-3700927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537815455	chr7:3700936-3700937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34263851	chr7:3700974-3700975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139607629	chr7:3700992-3700993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10279369	chr7:3700997-3700998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185172493	chr7:3701050-3701051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573365150	chr7:3701052-3701053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542094001	chr7:3701062-3701063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76514814	chr7:3701088-3701089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189923212	chr7:3701095-3701096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550518027	chr7:3701112-3701113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77954937	chr7:3701113-3701114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373254822	chr7:3701116-3701117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77629463	chr7:3701132-3701133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547049846	chr7:3701164-3701165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541153775	chr7:3701177-3701178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183208117	chr7:3701178-3701179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535603916	chr7:3701187-3701188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548928876	chr7:3701188-3701189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187925774	chr7:3701222-3701223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569127390	chr7:3701230-3701231	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:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3688400-3703200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:3688800-3703200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:3688800-3728400	Weak transcription	Aorta	Aorta
4	chr7:3694400-3705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3696000-3707800	Weak transcription	Pancreas	Pancrea
6	chr7:3699600-3700600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:3700200-3704000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:3703000-3704000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:3703200-3703400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:3703200-3703800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:3703200-3704000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:3703400-3703800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:3703800-3704000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:3704000-3709000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:3704000-3723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:3705800-3706200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:3706000-3706600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:3706200-3711600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:3707800-3708400	Enhancers	Pancreas	Pancrea
20	chr7:3708400-3711600	Weak transcription	Pancreas	Pancrea
21	chr7:3708600-3723600	Weak transcription	Stomach Mucosa	stomach
22	chr7:3708800-3713000	Enhancers	Primary T cells from cord blood	blood
23	chr7:3709000-3713400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:3710200-3710400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr7:3710200-3710600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:3710200-3710800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr7:3710200-3710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:3710200-3712200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr7:3710400-3712000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:3710600-3711000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:3710600-3711000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:3710600-3711600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:3710600-3711800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:3710600-3712000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr7:3711000-3712000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:3711400-3712200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr7:3711600-3711800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:3711600-3712000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr7:3711600-3712000	Enhancers	Fetal Brain Male	brain
40	chr7:3711600-3712000	Enhancers	Pancreas	Pancrea
41	chr7:3711600-3712000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr7:3711600-3712000	Enhancers	Thymus	Thymus
43	chr7:3711800-3712200	Enhancers	Fetal Lung	lung
44	chr7:3711800-3723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:3712000-3713000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:3712000-3713200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:3712600-3713000	Enhancers	Primary B cells from peripheral blood	blood
48	chr7:3712800-3713000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:3712800-3713200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:3712800-3713200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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