Variant report

Variant	nsv1020756
Chromosome Location	chr7:78801874-78852681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:78218746..78219372-chr7:78805948..78806448,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAT3-8	chr7:78802389-78804340	NONHSAT121698

Extended variants
information (count: 1435 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1435 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192731766	chr7:78801886-78801887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6950691	chr7:78801909-78801910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183481640	chr7:78801966-78801967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187535286	chr7:78802028-78802029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80056420	chr7:78802040-78802041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368870108	chr7:78802078-78802079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78781588	chr7:78802143-78802144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539236849	chr7:78802163-78802164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192458502	chr7:78802183-78802184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12706039	chr7:78802196-78802197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184825350	chr7:78802214-78802215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534637074	chr7:78802241-78802242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555658566	chr7:78802245-78802246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74334804	chr7:78802252-78802253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544260050	chr7:78802270-78802271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527789353	chr7:78802350-78802351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186581082	chr7:78802371-78802372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574116811	chr7:78802426-78802427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs546207222	chr7:78802435-78802436	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540326107	chr7:78802480-78802481	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs115476435	chr7:78802486-78802487	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs529504351	chr7:78802544-78802545	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs551680914	chr7:78802560-78802561	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs542922491	chr7:78802567-78802568	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs150266815	chr7:78802592-78802593	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs192618707	chr7:78802599-78802600	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs551399548	chr7:78802604-78802605	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs571313452	chr7:78802606-78802607	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs184383897	chr7:78802635-78802636	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs547886715	chr7:78802641-78802642	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs201866960	chr7:78802642-78802643	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs189665658	chr7:78802659-78802660	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs181451842	chr7:78802782-78802783	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs553432146	chr7:78802783-78802784	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs555685336	chr7:78802800-78802801	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs569214810	chr7:78802801-78802802	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs575348994	chr7:78802836-78802837	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs371845775	chr7:78802840-78802841	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs577722080	chr7:78802844-78802845	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs983050	chr7:78802950-78802951	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553852032	chr7:78802959-78802960	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs574128377	chr7:78802984-78802985	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs138959925	chr7:78802986-78802987	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs149012737	chr7:78802988-78802989	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs184494920	chr7:78803050-78803051	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs545308128	chr7:78803057-78803058	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs527955801	chr7:78803068-78803069	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs983051	chr7:78803126-78803127	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527708761	chr7:78803176-78803177	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs375882805	chr7:78803183-78803184	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Glioma	20126413	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78798600-78804800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:78800000-78803200	Weak transcription	Aorta	Aorta
3	chr7:78804200-78806200	Enhancers	Brain Angular Gyrus	brain
4	chr7:78804800-78805400	Enhancers	Brain Hippocampus Middle	brain
5	chr7:78804800-78805600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:78804800-78805800	Enhancers	Brain Substantia Nigra	brain
7	chr7:78804800-78806200	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:78805000-78806000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr7:78805400-78805600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:78805600-78806200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:78805600-78814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:78806000-78806200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:78806000-78806400	Active TSS	Osteobl	bone
14	chr7:78806200-78806400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:78806200-78806400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr7:78806200-78806400	Enhancers	Fetal Lung	lung
17	chr7:78806200-78806600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:78806200-78807000	Enhancers	Liver	Liver
19	chr7:78806600-78806800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:78806600-78807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:78806800-78807200	Enhancers	Fetal Heart	heart
22	chr7:78808800-78811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:78811200-78812400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:78811200-78812400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:78811400-78812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:78811400-78812000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:78811400-78812200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:78811400-78812400	Enhancers	NH-A	brain
29	chr7:78811600-78812000	Enhancers	NHEK	skin
30	chr7:78811600-78812200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:78811600-78812200	Enhancers	HMEC	breast
32	chr7:78811600-78812400	Enhancers	Osteobl	bone
33	chr7:78811800-78812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:78812000-78812400	Enhancers	NHLF	lung
35	chr7:78812000-78814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:78812000-78814200	Weak transcription	NHEK	skin
37	chr7:78812200-78814200	Weak transcription	HMEC	breast
38	chr7:78812400-78814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:78814200-78814800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:78814200-78815400	Enhancers	HMEC	breast
41	chr7:78814200-78816000	Enhancers	NHEK	skin
42	chr7:78814400-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:78814800-78815000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:78814800-78815600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:78815600-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:78822200-78822800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:78822800-78823200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:78823200-78823400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:78823400-78823800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:78823400-78829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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