Variant report

Variant	esv3399896
Chromosome Location	chr7:4302026-4303424
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	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
2	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6963119	chr7:4302038-4302039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552227262	chr7:4302050-4302051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150397645	chr7:4302053-4302054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73303726	chr7:4302056-4302057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75577062	chr7:4302076-4302077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113443546	chr7:4302102-4302103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80342735	chr7:4302106-4302107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34837208	chr7:4302154-4302155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536541665	chr7:4302209-4302210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556476837	chr7:4302217-4302218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576209713	chr7:4302247-4302248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182107340	chr7:4302268-4302269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574772068	chr7:4302315-4302316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532546358	chr7:4302320-4302321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76991828	chr7:4302332-4302333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369507318	chr7:4302344-4302345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10245332	chr7:4302366-4302367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13309310	chr7:4302419-4302420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13309353	chr7:4302465-4302466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13309362	chr7:4302488-4302489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13309364	chr7:4302493-4302494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13309372	chr7:4302521-4302522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13309402	chr7:4302526-4302527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13309403	chr7:4302536-4302537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13309404	chr7:4302538-4302539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193015532	chr7:4302585-4302586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13309565	chr7:4302586-4302587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13309566	chr7:4302589-4302590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13309570	chr7:4302625-4302626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541515291	chr7:4302649-4302650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561260968	chr7:4302742-4302743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530157277	chr7:4302745-4302746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185286049	chr7:4302824-4302825	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190162415	chr7:4302830-4302831	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111793871	chr7:4302836-4302837	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149216209	chr7:4302840-4302841	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552046691	chr7:4302881-4302882	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565869847	chr7:4302905-4302906	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534416704	chr7:4302927-4302928	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573237476	chr7:4302964-4302965	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4720208	chr7:4302987-4302988	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548406997	chr7:4302996-4302997	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192103656	chr7:4302998-4302999	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536677356	chr7:4303030-4303031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556562824	chr7:4303039-4303040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576292340	chr7:4303052-4303053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539326604	chr7:4303053-4303054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558835027	chr7:4303054-4303055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199945343	chr7:4303072-4303073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139246001	chr7:4303081-4303082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4287600-4304200	Weak transcription	Gastric	stomach
2	chr7:4289200-4304000	Weak transcription	Pancreas	Pancrea
3	chr7:4291400-4304200	Weak transcription	Aorta	Aorta
4	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:4298200-4307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:4301400-4302800	Enhancers	Fetal Stomach	stomach
7	chr7:4301400-4304200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:4301400-4304600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:4301400-4306600	Weak transcription	HSMMtube	muscle
10	chr7:4301600-4304000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:4301600-4304400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:4301600-4304600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:4301600-4306600	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:4301600-4306600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:4301600-4307000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:4301600-4309800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:4302600-4303000	Enhancers	HSMM	muscle
18	chr7:4302800-4303000	Bivalent Enhancer	Fetal Stomach	stomach

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