Variant report

Variant	nsv1024961
Chromosome Location	chr7:78432257-78483201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 661 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:661 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144703287	chr7:78434221-78434222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs37880	chr7:78434236-78434237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544316813	chr7:78434267-78434268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558126799	chr7:78434275-78434276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578221603	chr7:78434338-78434339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188435866	chr7:78434348-78434349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560727563	chr7:78434350-78434351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369178631	chr7:78434398-78434399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529529109	chr7:78434400-78434401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113572786	chr7:78434405-78434406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561662792	chr7:78434509-78434510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530619189	chr7:78434513-78434514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145671291	chr7:78434584-78434585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201941126	chr7:78434586-78434587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62467662	chr7:78434589-78434590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570427623	chr7:78434602-78434603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75590819	chr7:78434646-78434647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546502819	chr7:78434710-78434711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566400299	chr7:78434722-78434723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375395292	chr7:78434724-78434725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147291707	chr7:78434741-78434742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555128979	chr7:78434761-78434762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569295868	chr7:78434775-78434776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538337703	chr7:78434825-78434826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557919404	chr7:78434834-78434835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577978137	chr7:78434884-78434885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562063808	chr7:78434913-78434914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558963604	chr7:78434921-78434922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114834287	chr7:78434927-78434928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193225698	chr7:78434934-78434935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140897695	chr7:78434941-78434942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1207887	chr7:78434965-78434966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563093830	chr7:78434983-78434984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13233006	chr7:78435005-78435006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs142423014	chr7:78435012-78435013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563989109	chr7:78435022-78435023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533098561	chr7:78435026-78435027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532784558	chr7:78435061-78435062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376910896	chr7:78435123-78435124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546164620	chr7:78435175-78435176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78133854	chr7:78435231-78435232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185464831	chr7:78435235-78435236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151167122	chr7:78435276-78435277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573797210	chr7:78435317-78435318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189455823	chr7:78435318-78435319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528902225	chr7:78435333-78435334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569037559	chr7:78435369-78435370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140245294	chr7:78435394-78435395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551869342	chr7:78435469-78435470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75451935	chr7:78435472-78435473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78434200-78438600	Weak transcription	Ovary	ovary
2	chr7:78446600-78447000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
3	chr7:78457600-78458000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:78461800-78463000	Enhancers	Placenta	Placenta
5	chr7:78464000-78464400	ZNF genes & repeats	Pancreas	Pancrea
6	chr7:78464400-78465000	Weak transcription	Pancreas	Pancrea
7	chr7:78467000-78467400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:78473600-78474200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:78475600-78475800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:78475800-78476200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:78475800-78479000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:78476200-78478400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:78477400-78477600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:78477400-78477600	Enhancers	Pancreas	Pancrea
15	chr7:78478400-78478800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:78478600-78480800	Enhancers	HSMMtube	muscle
17	chr7:78478600-78484600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:78478600-78484600	Enhancers	HSMM	muscle
19	chr7:78478800-78479000	Enhancers	Brain Substantia Nigra	brain
20	chr7:78479000-78479200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:78479200-78479600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:78479200-78480000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:78479200-78480200	Enhancers	HepG2	liver
24	chr7:78479400-78480800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:78479600-78479800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:78479600-78480000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:78479600-78480200	Enhancers	Fetal Heart	heart
28	chr7:78479800-78480200	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:78479800-78480200	Enhancers	Brain Hippocampus Middle	brain
30	chr7:78479800-78480200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:78479800-78480800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr7:78479800-78481000	Enhancers	Brain Angular Gyrus	brain
33	chr7:78479800-78482400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:78480000-78480200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr7:78480000-78480800	Enhancers	Brain Substantia Nigra	brain
36	chr7:78480000-78480800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:78480000-78481000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:78480200-78480800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:78480600-78480800	Enhancers	Psoas Muscle	Psoas
40	chr7:78481000-78482200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:78482200-78482400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:78482200-78482600	Enhancers	Osteobl	bone
43	chr7:78482200-78484200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:78482400-78482600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:78482600-78484000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:78482800-78483200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:78483000-78483400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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