Variant report

Variant	esv8698
Chromosome Location	chr7:3253539-3254424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3254030..3256348-chr7:3338235..3340171,2	MCF-7	breast:
2	chr7:3251471..3253553-chr7:3281258..3284246,2	MCF-7	breast:
3	chr7:3254376..3256017-chr7:3281440..3283827,2	MCF-7	breast:
4	chr7:3254337..3257238-chr7:3340637..3342323,2	MCF-7	breast:
5	chr7:3253620..3255788-chr7:3339992..3342861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236708	chromatin interactions
ENSG00000146555	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556962665	chr7:3253570-3253571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549612707	chr7:3253580-3253581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568118861	chr7:3253584-3253585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182563926	chr7:3253638-3253639	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs4722588	chr7:3253644-3253645	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553991493	chr7:3253647-3253648	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372758849	chr7:3253666-3253667	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559258766	chr7:3253681-3253682	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566006297	chr7:3253683-3253684	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs137948490	chr7:3253687-3253688	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541637593	chr7:3253709-3253710	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370142526	chr7:3253729-3253730	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs75948755	chr7:3253731-3253732	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs186588255	chr7:3253749-3253750	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549899234	chr7:3253754-3253755	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs4719861	chr7:3253850-3253851	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs75165080	chr7:3253857-3253858	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190263152	chr7:3253887-3253888	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs527541549	chr7:3253890-3253891	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535190835	chr7:3253894-3253895	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555206169	chr7:3253895-3253896	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs72564312	chr7:3253904-3253905	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11439327	chr7:3253905-3253906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs377495148	chr7:3253950-3253951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs544568512	chr7:3253981-3253982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs367984179	chr7:3253983-3253984	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs149471817	chr7:3254004-3254005	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73041553	chr7:3254037-3254038	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542047255	chr7:3254059-3254060	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549251623	chr7:3254064-3254065	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs181186026	chr7:3254095-3254096	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs4719862	chr7:3254120-3254121	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143877807	chr7:3254121-3254122	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs561589364	chr7:3254126-3254127	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112362011	chr7:3254136-3254137	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543924576	chr7:3254140-3254141	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563653123	chr7:3254173-3254174	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532506190	chr7:3254175-3254176	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552301875	chr7:3254176-3254177	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566331994	chr7:3254184-3254185	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113103451	chr7:3254190-3254191	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548788965	chr7:3254197-3254198	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568703529	chr7:3254198-3254199	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs536721893	chr7:3254200-3254201	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs58982302	chr7:3254223-3254224	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs60960720	chr7:3254258-3254259	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539377915	chr7:3254259-3254260	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552550626	chr7:3254275-3254276	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs549400028	chr7:3254321-3254322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535394986	chr7:3254326-3254327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Urothelial carcinoma	21177765	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3253200-3253800	Enhancers	Pancreas	Pancrea
2	chr7:3253800-3255400	Weak transcription	Pancreas	Pancrea
3	chr7:3254000-3254200	Enhancers	Aorta	Aorta
4	chr7:3254200-3256600	Weak transcription	Aorta	Aorta

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