Variant report

Variant	esv3335866
Chromosome Location	chr7:3135240-3135446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67787789	chr7:3135249-3135250	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555253098	chr7:3135264-3135265	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs142193398	chr7:3135271-3135272	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185784283	chr7:3135272-3135273	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557259866	chr7:3135278-3135279	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144781137	chr7:3135281-3135282	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545464912	chr7:3135306-3135307	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369526405	chr7:3135372-3135373	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs67576035	chr7:3135383-3135384	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201137240	chr7:3135384-3135385	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs398110975	chr7:3135386-3135387	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs572466649	chr7:3135390-3135391	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541429009	chr7:3135392-3135393	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12537681	chr7:3135401-3135402	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190686213	chr7:3135409-3135410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550879152	chr7:3135415-3135416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564098001	chr7:3135434-3135435	Enhancers Weak transcription	n/a	n/a	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3133800-3135400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:3134000-3135400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:3134200-3135400	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr7:3134200-3135400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr7:3134200-3135400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:3134400-3135400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:3135000-3135400	Enhancers	Fetal Thymus	thymus
8	chr7:3135000-3136200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:3135200-3135400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:3135200-3135400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:3135200-3136000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:3135200-3136000	Enhancers	Primary B cells from cord blood	blood
13	chr7:3135200-3136000	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:3135200-3136000	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:3135200-3136000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr7:3135200-3136200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:3135200-3136200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:3135200-3136400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:3135200-3136400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:3135200-3136400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:3135200-3136600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:3135200-3136800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr7:3135200-3136800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:3135200-3136800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:3135200-3137000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:3135400-3135600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:3135400-3135600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr7:3135400-3136400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:3135400-3136400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:3135400-3136600	Enhancers	Primary T cells from cord blood	blood
31	chr7:3135400-3136600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:3135400-3138200	Weak transcription	Fetal Thymus	thymus

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