Variant report

Variant	esv3330403
Chromosome Location	chr7:4082691-4083118
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	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67543459	chr7:4082725-4082726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542388863	chr7:4082739-4082740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556237121	chr7:4082743-4082744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576176787	chr7:4082745-4082746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149581793	chr7:4082750-4082751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201423062	chr7:4082751-4082752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147246529	chr7:4082752-4082753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73673280	chr7:4082754-4082755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571141213	chr7:4082769-4082770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116282206	chr7:4082801-4082802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73673282	chr7:4082928-4082929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560315590	chr7:4082933-4082934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34325715	chr7:4082946-4082947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370478353	chr7:4082947-4082948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9691924	chr7:4082980-4082981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549075462	chr7:4083029-4083030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142915413	chr7:4083031-4083032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531652451	chr7:4083056-4083057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537002216	chr7:4083057-4083058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35914968	chr7:4083058-4083059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12155501	chr7:4083073-4083074	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
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
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4066800-4087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
4	chr7:4077800-4087800	Weak transcription	Spleen	Spleen
5	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
6	chr7:4079600-4083800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:4080200-4083800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:4080200-4083800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:4080200-4083800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:4080600-4084000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:4080800-4083200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:4082000-4083400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:4082000-4084000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:4082200-4082800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:4082200-4082800	Enhancers	Esophagus	oesophagus
16	chr7:4082200-4082800	Enhancers	Fetal Muscle Leg	muscle
17	chr7:4082200-4083400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:4082200-4083600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:4082400-4089800	Weak transcription	Fetal Stomach	stomach
20	chr7:4082400-4091200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:4082600-4084000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:4082800-4097000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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