Variant report

Variant	nsv607675
Chromosome Location	chr7:79495456-79519229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 655 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:655 , 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	rs17204415	chr7:79495456-79495457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546753408	chr7:79495460-79495461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73368654	chr7:79495476-79495477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79991773	chr7:79495518-79495519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375080913	chr7:79495532-79495533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191663896	chr7:79495535-79495536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77258962	chr7:79495588-79495589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575580987	chr7:79495608-79495609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80124724	chr7:79495642-79495643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558155317	chr7:79495667-79495668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577176873	chr7:79495718-79495719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546121736	chr7:79495818-79495819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184975843	chr7:79495870-79495871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562557991	chr7:79495895-79495896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111470759	chr7:79495918-79495919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561656317	chr7:79495930-79495931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530650731	chr7:79495939-79495940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11975054	chr7:79495978-79495979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs564115809	chr7:79495996-79495997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533402656	chr7:79496013-79496014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546939402	chr7:79496055-79496056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78772006	chr7:79496097-79496098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199738644	chr7:79496185-79496186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11975127	chr7:79496206-79496207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569225543	chr7:79496268-79496269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538352360	chr7:79496286-79496287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557827783	chr7:79496287-79496288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571715457	chr7:79496298-79496299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539735879	chr7:79496332-79496333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553336815	chr7:79496360-79496361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148740460	chr7:79496365-79496366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541629902	chr7:79496371-79496372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555550460	chr7:79496442-79496443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113070651	chr7:79496497-79496498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371476315	chr7:79496502-79496503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544300428	chr7:79496504-79496505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545319520	chr7:79496538-79496539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142366792	chr7:79496547-79496548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7779271	chr7:79496551-79496552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs151247890	chr7:79496584-79496585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567067239	chr7:79496621-79496622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560443052	chr7:79496645-79496646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529613823	chr7:79496648-79496649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139556310	chr7:79496668-79496669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549112239	chr7:79496687-79496688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189897574	chr7:79496702-79496703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374905768	chr7:79496766-79496767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201889235	chr7:79496880-79496881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62459946	chr7:79496899-79496900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146621740	chr7:79496920-79496921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Williams-beuren syndrome	16826523	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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79492400-79501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:79497000-79497200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:79497200-79497400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:79497200-79497400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:79497200-79497400	Active TSS	Adipose Nuclei	Adipose
6	chr7:79497200-79497600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:79497200-79497800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:79497200-79498200	Enhancers	Dnd41	blood
9	chr7:79497400-79497600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr7:79497400-79497800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:79497400-79497800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:79497400-79497800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:79497400-79497800	Active TSS	NHLF	lung
14	chr7:79497400-79497800	Active TSS	Osteobl	bone
15	chr7:79497400-79498000	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:79497400-79498000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:79497600-79497800	Enhancers	Adipose Nuclei	Adipose
18	chr7:79497600-79498000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:79497800-79498400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:79498200-79505600	Weak transcription	Dnd41	blood
21	chr7:79501600-79501800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:79505600-79506600	ZNF genes & repeats	Dnd41	blood
23	chr7:79505800-79506000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:79505800-79506400	Enhancers	A549	lung
25	chr7:79505800-79506600	Enhancers	Osteobl	bone
26	chr7:79505800-79507400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:79506000-79506200	Enhancers	Hela-S3	cervix
28	chr7:79506000-79506800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:79506200-79506600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:79506200-79506600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:79506200-79506600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:79506200-79506600	Flanking Active TSS	Hela-S3	cervix
33	chr7:79506200-79507400	Enhancers	Fetal Heart	heart
34	chr7:79506200-79507800	Enhancers	NHLF	lung
35	chr7:79506400-79506600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:79506600-79507000	Enhancers	Hela-S3	cervix
37	chr7:79506800-79507400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:79507200-79507600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:79507600-79509200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:79509200-79509800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr7:79509600-79510200	Enhancers	Fetal Brain Male	brain
42	chr7:79509800-79510600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:79510600-79510800	Active TSS	Pancreatic Islets	Pancreatic Islet

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