Variant report

Variant	nsv887333
Chromosome Location	chr7:3475716-3542488
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
2	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
3	chr7:3521696..3522495-chr7:3631928..3632648,2	MCF-7	breast:
4	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
5	chr7:3340840..3343338-chr7:3476351..3477939,2	MCF-7	breast:
6	chr7:3522949..3523470-chr7:3687761..3688597,2	MCF-7	breast:
7	chr7:3521755..3523053-chr7:3688631..3689551,7	MCF-7	breast:
8	chr7:3467584..3469607-chr7:3473579..3476455,2	MCF-7	breast:
9	chr7:3439202..3440208-chr7:3521793..3522518,3	MCF-7	breast:
10	chr7:3521340..3522302-chr7:4671144..4671918,2	MCF-7	breast:
11	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:
12	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
13	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236708	chromatin interactions
ENSG00000146555	chromatin interactions

Extended variants
information (count: 3937 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3937 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7802106	chr7:3475716-3475717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549461994	chr7:3475748-3475749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563047311	chr7:3475770-3475771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7802250	chr7:3475820-3475821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs376841111	chr7:3475824-3475825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537879483	chr7:3475849-3475850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552163943	chr7:3475867-3475868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185247914	chr7:3475887-3475888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17133355	chr7:3475894-3475895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534458892	chr7:3475944-3475945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553967970	chr7:3475961-3475962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573863078	chr7:3475969-3475970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190015009	chr7:3476025-3476026	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555870667	chr7:3476047-3476048	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376693876	chr7:3476082-3476083	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144440214	chr7:3476137-3476138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115615040	chr7:3476171-3476172	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs79134933	chr7:3476178-3476179	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs117651350	chr7:3476195-3476196	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570327580	chr7:3476240-3476241	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561078797	chr7:3476281-3476282	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529947829	chr7:3476289-3476290	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537616039	chr7:3476307-3476308	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113325367	chr7:3476321-3476322	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10235617	chr7:3476330-3476331	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531822145	chr7:3476337-3476338	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181917821	chr7:3476360-3476361	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371585775	chr7:3476380-3476381	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs536691627	chr7:3476383-3476384	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs115066997	chr7:3476404-3476405	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555001693	chr7:3476433-3476434	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376025096	chr7:3476455-3476456	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs536496422	chr7:3476458-3476459	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369294894	chr7:3476470-3476471	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556332129	chr7:3476489-3476490	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576067805	chr7:3476499-3476500	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs10266047	chr7:3476501-3476502	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs558287690	chr7:3476505-3476506	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112985529	chr7:3476512-3476513	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs534300532	chr7:3476530-3476531	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs7807993	chr7:3476544-3476545	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144581199	chr7:3476549-3476550	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577393386	chr7:3476551-3476552	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544461515	chr7:3476569-3476570	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs111488670	chr7:3476590-3476591	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs369901445	chr7:3476614-3476615	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530012503	chr7:3476632-3476633	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs563234484	chr7:3476637-3476638	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs543682295	chr7:3476653-3476654	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548577479	chr7:3476657-3476658	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	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:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3468800-3482400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:3469600-3479000	Weak transcription	Aorta	Aorta
3	chr7:3470400-3476800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:3470400-3482800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:3470600-3479000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:3470800-3476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:3470800-3479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:3471000-3477000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3471400-3475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:3471400-3476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:3471400-3477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:3473000-3476200	Weak transcription	Osteobl	bone
13	chr7:3473200-3479400	Weak transcription	Right Ventricle	heart
14	chr7:3473400-3476000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:3473600-3477800	Weak transcription	NHDF-Ad	bronchial
16	chr7:3473600-3478000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:3473600-3478800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:3475200-3476800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:3475400-3476000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:3475400-3476000	Enhancers	NH-A	brain
21	chr7:3475400-3476200	Enhancers	HUVEC	blood vessel
22	chr7:3475400-3476400	Enhancers	HSMM	muscle
23	chr7:3475400-3476600	Enhancers	A549	lung
24	chr7:3475400-3476600	Enhancers	NHEK	skin
25	chr7:3475400-3477400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:3475600-3476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:3475600-3477000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:3475600-3478000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:3475800-3476400	Weak transcription	HMEC	breast
30	chr7:3475800-3476600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:3476000-3476400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr7:3476000-3476800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:3476000-3477200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:3476000-3477200	Flanking Active TSS	NH-A	brain
35	chr7:3476200-3476400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:3476200-3476400	Flanking Active TSS	HUVEC	blood vessel
37	chr7:3476200-3476600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:3476200-3476600	Enhancers	Osteobl	bone
39	chr7:3476200-3477000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:3476400-3476800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr7:3476400-3476800	Active TSS	HUVEC	blood vessel
42	chr7:3476400-3477000	Active TSS	HSMM	muscle
43	chr7:3476400-3477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:3476400-3477600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:3476600-3477000	Active TSS	HMEC	breast
46	chr7:3476600-3477200	Flanking Active TSS	A549	lung
47	chr7:3476600-3477400	Flanking Active TSS	NHEK	skin
48	chr7:3476600-3478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:3476600-3479200	Enhancers	HSMMtube	muscle
50	chr7:3476800-3477200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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