Variant report

Variant	esv3341755
Chromosome Location	chr7:127791993-127792273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127791935..127793463-chr7:127829513..127831967,2	MCF-7	breast:
2	chr7:127771299..127774021-chr7:127790883..127793192,2	K562	blood:
3	chr7:127781932..127784311-chr7:127790193..127792001,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543378984	chr7:127791993-127791994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs322729	chr7:127792010-127792011	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117174347	chr7:127792029-127792030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139233192	chr7:127792030-127792031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560083365	chr7:127792043-127792044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62484025	chr7:127792065-127792066	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62484026	chr7:127792094-127792095	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182671329	chr7:127792100-127792101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531353906	chr7:127792101-127792102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566202034	chr7:127792102-127792103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112225248	chr7:127792130-127792131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111836476	chr7:127792133-127792134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538324522	chr7:127792144-127792145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549779625	chr7:127792169-127792170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185474532	chr7:127792171-127792172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113765100	chr7:127792172-127792173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140805576	chr7:127792174-127792175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552121966	chr7:127792200-127792201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111528598	chr7:127792202-127792203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189889318	chr7:127792208-127792209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127788600-127796000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:127789600-127795800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr7:127790600-127793200	Weak transcription	Right Atrium	heart
4	chr7:127790600-127803400	Weak transcription	Spleen	Spleen
5	chr7:127791400-127796000	Enhancers	Monocytes-CD14+_RO01746	blood

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