Variant report

Variant	esv2589929
Chromosome Location	chr7:3473098-3474521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3467584..3469607-chr7:3473579..3476455,2	MCF-7	breast:
2	chr7:3466489..3468571-chr7:3470496..3474286,3	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547339647	chr7:3473099-3473100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571949158	chr7:3473117-3473118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146443974	chr7:3473131-3473132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532179966	chr7:3473148-3473149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75143486	chr7:3473180-3473181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532649491	chr7:3473224-3473225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550543975	chr7:3473247-3473248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140889062	chr7:3473250-3473251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530072880	chr7:3473255-3473256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549740872	chr7:3473258-3473259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570057393	chr7:3473279-3473280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7801995	chr7:3473342-3473343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs558893151	chr7:3473372-3473373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559488034	chr7:3473389-3473390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534440410	chr7:3473400-3473401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113970376	chr7:3473411-3473412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144778955	chr7:3473432-3473433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574564051	chr7:3473435-3473436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185789439	chr7:3473464-3473465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143197295	chr7:3473476-3473477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566349326	chr7:3473480-3473481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372888776	chr7:3473481-3473482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190393630	chr7:3473483-3473484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546034553	chr7:3473494-3473495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374266162	chr7:3473499-3473500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375887577	chr7:3473510-3473511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368602291	chr7:3473511-3473512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145458530	chr7:3473515-3473516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181256544	chr7:3473519-3473520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533713472	chr7:3473526-3473527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78031811	chr7:3473559-3473560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6969711	chr7:3473582-3473583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547588135	chr7:3473583-3473584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549800758	chr7:3473588-3473589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17133352	chr7:3473600-3473601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186554209	chr7:3473629-3473630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552806378	chr7:3473645-3473646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566157697	chr7:3473662-3473663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535255136	chr7:3473694-3473695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548797318	chr7:3473718-3473719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111870109	chr7:3473728-3473729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576714243	chr7:3473731-3473732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545118701	chr7:3473750-3473751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369966055	chr7:3473755-3473756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537103887	chr7:3473769-3473770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556999773	chr7:3473770-3473771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114346833	chr7:3473781-3473782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75081021	chr7:3473793-3473794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553269811	chr7:3473808-3473809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs66790405	chr7:3473809-3473810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:31 , 50 per page) page: 1

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	chr7:3470400-3475000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:3470400-3476800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:3470400-3482800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:3470600-3475200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:3470600-3479000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:3470800-3476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:3470800-3479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:3471000-3477000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:3471200-3473600	Enhancers	NHDF-Ad	bronchial
12	chr7:3471200-3475400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:3471400-3474000	Weak transcription	HMEC	breast
14	chr7:3471400-3475400	Weak transcription	NH-A	brain
15	chr7:3471400-3475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:3471400-3476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:3471400-3477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:3471600-3475200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:3471600-3475400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:3471600-3475400	Weak transcription	NHEK	skin
21	chr7:3473000-3473200	Weak transcription	Adipose Nuclei	Adipose
22	chr7:3473000-3473400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:3473000-3473600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:3473000-3473600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:3473000-3476200	Weak transcription	Osteobl	bone
26	chr7:3473200-3479400	Weak transcription	Right Ventricle	heart
27	chr7:3473400-3474400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr7:3473400-3476000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:3473600-3477800	Weak transcription	NHDF-Ad	bronchial
30	chr7:3473600-3478000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:3473600-3478800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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