Variant report

Variant	nsv888511
Chromosome Location	chr7:78784444-78851126
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:
2	chr7:78776964..78780681-chr7:78782955..78785203,3	K562	blood:

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

Extended variants
information (count: 1910 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1910 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17152025	chr7:78784444-78784445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567420672	chr7:78784455-78784456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536472274	chr7:78784470-78784471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373015815	chr7:78784507-78784508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62460848	chr7:78784546-78784547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142304735	chr7:78784570-78784571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386714987	chr7:78784575-78784576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199553731	chr7:78784576-78784577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67230558	chr7:78784577-78784578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56965289	chr7:78784581-78784582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200572108	chr7:78784582-78784583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200462538	chr7:78784583-78784584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182665218	chr7:78784617-78784618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7456075	chr7:78784619-78784620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538604640	chr7:78784642-78784643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149571355	chr7:78784728-78784729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572099707	chr7:78784735-78784736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187306545	chr7:78784736-78784737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73704250	chr7:78784755-78784756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574666602	chr7:78784782-78784783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190619875	chr7:78784786-78784787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182970499	chr7:78784794-78784795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532723930	chr7:78784815-78784816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144246036	chr7:78784848-78784849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73704252	chr7:78784862-78784863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148788084	chr7:78784871-78784872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528488890	chr7:78784945-78784946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548673060	chr7:78784953-78784954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577452770	chr7:78784974-78784975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371209032	chr7:78785045-78785046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34618824	chr7:78785145-78785146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374274110	chr7:78785169-78785170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188646954	chr7:78785170-78785171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550026475	chr7:78785201-78785202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142462880	chr7:78785203-78785204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558610696	chr7:78785227-78785228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576809232	chr7:78785235-78785236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537851759	chr7:78785258-78785259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558825839	chr7:78785266-78785267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146349565	chr7:78785276-78785277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139731464	chr7:78785346-78785347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554212729	chr7:78785396-78785397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546504108	chr7:78785405-78785406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144038710	chr7:78785440-78785441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543589313	chr7:78785445-78785446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193264901	chr7:78785463-78785464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577458175	chr7:78785477-78785478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546132263	chr7:78785495-78785496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560015693	chr7:78785499-78785500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528441289	chr7:78785532-78785533	Weak transcription	n/a	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78781800-78794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:78786000-78794800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:78788400-78788800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:78789200-78789600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:78790600-78791000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:78790600-78791000	Enhancers	Liver	Liver
7	chr7:78790600-78791800	Enhancers	Brain Substantia Nigra	brain
8	chr7:78791600-78791800	Enhancers	Ovary	ovary
9	chr7:78793000-78793600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:78793200-78793600	Enhancers	Adipose Nuclei	Adipose
11	chr7:78794400-78795400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:78798600-78804800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:78800000-78803200	Weak transcription	Aorta	Aorta
14	chr7:78801400-78801800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:78804200-78806200	Enhancers	Brain Angular Gyrus	brain
16	chr7:78804800-78805400	Enhancers	Brain Hippocampus Middle	brain
17	chr7:78804800-78805600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:78804800-78805800	Enhancers	Brain Substantia Nigra	brain
19	chr7:78804800-78806200	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:78805000-78806000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:78805400-78805600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:78805600-78806200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:78805600-78814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:78806000-78806200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:78806000-78806400	Active TSS	Osteobl	bone
26	chr7:78806200-78806400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:78806200-78806400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:78806200-78806400	Enhancers	Fetal Lung	lung
29	chr7:78806200-78806600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:78806200-78807000	Enhancers	Liver	Liver
31	chr7:78806600-78806800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:78806600-78807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:78806800-78807200	Enhancers	Fetal Heart	heart
34	chr7:78808800-78811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:78811200-78812400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:78811200-78812400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:78811400-78812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:78811400-78812000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:78811400-78812200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:78811400-78812400	Enhancers	NH-A	brain
41	chr7:78811600-78812000	Enhancers	NHEK	skin
42	chr7:78811600-78812200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:78811600-78812200	Enhancers	HMEC	breast
44	chr7:78811600-78812400	Enhancers	Osteobl	bone
45	chr7:78811800-78812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:78812000-78812400	Enhancers	NHLF	lung
47	chr7:78812000-78814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:78812000-78814200	Weak transcription	NHEK	skin
49	chr7:78812200-78814200	Weak transcription	HMEC	breast
50	chr7:78812400-78814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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