Variant report

Variant	esv3477859
Chromosome Location	chr7:150283319-150288217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 234 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114635246	chr7:150283362-150283363	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs60819907	chr7:150283410-150283411	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117910601	chr7:150283412-150283413	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531009296	chr7:150283454-150283455	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140174450	chr7:150283487-150283488	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12672622	chr7:150283523-150283524	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570526936	chr7:150283538-150283539	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549892042	chr7:150283545-150283546	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187896087	chr7:150283557-150283558	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73727338	chr7:150283579-150283580	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555721930	chr7:150283580-150283581	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74908949	chr7:150283597-150283598	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534824133	chr7:150283699-150283700	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77627982	chr7:150283720-150283721	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34534990	chr7:150283773-150283774	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs376069339	chr7:150283783-150283784	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545928446	chr7:150283800-150283801	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34176120	chr7:150283847-150283848	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs10270122	chr7:150283853-150283854	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566758715	chr7:150283860-150283861	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79135062	chr7:150283902-150283903	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150072113	chr7:150283909-150283910	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145191375	chr7:150283911-150283912	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73473303	chr7:150283918-150283919	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548067612	chr7:150283924-150283925	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564563148	chr7:150283926-150283927	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558648424	chr7:150283991-150283992	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533552906	chr7:150283993-150283994	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6950079	chr7:150284012-150284013	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs370367652	chr7:150284016-150284017	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1916027	chr7:150284035-150284036	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs560127950	chr7:150284045-150284046	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149125247	chr7:150284109-150284110	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565967482	chr7:150284138-150284139	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556054467	chr7:150284147-150284148	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142276276	chr7:150284170-150284171	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6950421	chr7:150284200-150284201	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs570261331	chr7:150284207-150284208	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533812354	chr7:150284226-150284227	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6954709	chr7:150284242-150284243	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs146805850	chr7:150284275-150284276	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556254704	chr7:150284276-150284277	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530978001	chr7:150284292-150284293	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140623414	chr7:150284304-150284305	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75790617	chr7:150284320-150284321	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6954602	chr7:150284342-150284343	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572397467	chr7:150284345-150284346	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144757060	chr7:150284379-150284380	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138709213	chr7:150284386-150284387	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111701838	chr7:150284393-150284394	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150278400-150283400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:150278600-150283400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:150279000-150283400	Weak transcription	Liver	Liver
4	chr7:150280000-150283600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:150281000-150284000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr7:150281000-150285200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:150281400-150283400	Enhancers	HUVEC	blood vessel
8	chr7:150281400-150285200	Enhancers	Primary T cells from cord blood	blood
9	chr7:150281600-150284600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:150281800-150283800	Enhancers	Left Ventricle	heart
11	chr7:150281800-150284400	Enhancers	Spleen	Spleen
12	chr7:150281800-150284600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:150281800-150285000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:150282000-150284800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:150282000-150285000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:150282200-150283800	Enhancers	Fetal Heart	heart
17	chr7:150282400-150284200	Enhancers	Right Ventricle	heart
18	chr7:150282400-150285400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr7:150282400-150285400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr7:150282600-150283400	Enhancers	Adipose Nuclei	Adipose
21	chr7:150282600-150284600	Enhancers	Right Atrium	heart
22	chr7:150282600-150285000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr7:150282800-150285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150282800-150285200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr7:150283000-150283800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:150283000-150284600	Enhancers	Primary hematopoietic stem cells	blood
27	chr7:150283000-150284800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:150283200-150284400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:150283200-150284800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr7:150283200-150285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:150283200-150285400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:150283400-150283600	Enhancers	Duodenum Mucosa	Duodenum
33	chr7:150283400-150283600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr7:150283400-150283800	Enhancers	Liver	Liver
35	chr7:150283400-150283800	Enhancers	Brain Anterior Caudate	brain
36	chr7:150283400-150283800	Enhancers	GM12878-XiMat	blood
37	chr7:150283400-150284200	Enhancers	Primary B cells from cord blood	blood
38	chr7:150283400-150284400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr7:150283400-150284400	Flanking Active TSS	HUVEC	blood vessel
40	chr7:150283400-150284600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:150283400-150284600	Enhancers	Fetal Thymus	thymus
42	chr7:150283400-150284600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr7:150283400-150285000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr7:150283400-150285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:150283400-150285200	Enhancers	Dnd41	blood
46	chr7:150283600-150284000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr7:150283600-150284000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr7:150283600-150284200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr7:150283600-150284400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr7:150283600-150284600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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