Variant report

Variant	nsv933481
Chromosome Location	chr7:145813559-145814093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187944069	chr7:145813640-145813641	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551981603	chr7:145813656-145813657	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570149556	chr7:145813667-145813668	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531076674	chr7:145813719-145813720	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147387479	chr7:145813756-145813757	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567326957	chr7:145813794-145813795	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2462603	chr7:145813854-145813855	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552865482	chr7:145813885-145813886	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576639285	chr7:145813886-145813887	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571236387	chr7:145813900-145813901	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538552704	chr7:145813915-145813916	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549396215	chr7:145813920-145813921	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376828245	chr7:145813921-145813922	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs191830389	chr7:145813934-145813935	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542709358	chr7:145814008-145814009	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs200866893	chr7:145814041-145814042	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs572889297	chr7:145814058-145814059	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs375492857	chr7:145814087-145814088	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145812000-145813600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:145812200-145813600	Active TSS	Brain Anterior Caudate	brain
3	chr7:145812200-145815200	Active TSS	Brain Angular Gyrus	brain
4	chr7:145812400-145813600	Active TSS	Brain Hippocampus Middle	brain
5	chr7:145812400-145815200	Active TSS	Fetal Brain Female	brain
6	chr7:145812600-145813800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:145812600-145814000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:145812600-145814000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:145812600-145814000	Active TSS	Brain Cingulate Gyrus	brain
10	chr7:145812600-145814000	Active TSS	Fetal Brain Male	brain
11	chr7:145812600-145814200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr7:145812600-145814200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:145812600-145814200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:145812600-145814200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:145812600-145814400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:145812600-145814600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:145812800-145813600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:145812800-145813600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:145812800-145813600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr7:145812800-145813600	Weak transcription	Fetal Heart	heart
21	chr7:145812800-145813800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:145812800-145813800	Bivalent Enhancer	Liver	Liver
23	chr7:145812800-145813800	Active TSS	Brain Substantia Nigra	brain
24	chr7:145812800-145813800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:145812800-145813800	Active TSS	NH-A	brain
26	chr7:145812800-145814000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:145812800-145814000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:145812800-145814000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:145812800-145814000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
30	chr7:145812800-145814000	Active TSS	Colonic Mucosa	Colon
31	chr7:145812800-145814200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:145812800-145814200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:145812800-145814200	Flanking Active TSS	Ovary	ovary
34	chr7:145812800-145814200	Flanking Active TSS	Pancreas	Pancrea
35	chr7:145812800-145814400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr7:145812800-145814400	Enhancers	Spleen	Spleen
37	chr7:145812800-145814600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr7:145812800-145814800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr7:145812800-145815000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:145812800-145815400	Active TSS	Brain Germinal Matrix	brain
41	chr7:145812800-145815400	Active TSS	Fetal Kidney	kidney
42	chr7:145813000-145813600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:145813000-145813600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:145813000-145813600	Active TSS	Colon Smooth Muscle	Colon
45	chr7:145813000-145813600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr7:145813000-145813600	Bivalent/Poised TSS	Fetal Stomach	stomach
47	chr7:145813000-145813600	Flanking Active TSS	Gastric	stomach
48	chr7:145813000-145813800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:145813000-145813800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr7:145813000-145813800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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