Variant report

Variant	nsv437988
Chromosome Location	chr7:78806100-78910974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:78901096..78902018-chr7:79648257..79649001,2	MCF-7	breast:
2	chr7:78900547..78903338-chr7:78905670..78907338,2	MCF-7	breast:
3	chr7:78900547..78903338-chr7:78905670..78907338,2	MCF-7	breast:
4	chr7:78218746..78219372-chr7:78805948..78806448,2	MCF-7	breast:
5	chr7:78901152..78901823-chr7:79676996..79677853,2	MCF-7	breast:

Extended variants
information (count: 2878 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2878 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11978598	chr7:78806100-78806101	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373530222	chr7:78806185-78806186	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552227486	chr7:78806189-78806190	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559215909	chr7:78806194-78806195	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35645613	chr7:78806200-78806201	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs397745580	chr7:78806201-78806202	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528675009	chr7:78806203-78806204	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548543814	chr7:78806205-78806206	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568672701	chr7:78806287-78806288	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537697115	chr7:78806311-78806312	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184268361	chr7:78806315-78806316	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570840898	chr7:78806353-78806354	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs367813271	chr7:78806375-78806376	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539486622	chr7:78806392-78806393	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372627016	chr7:78806406-78806407	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201272121	chr7:78806436-78806437	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376228338	chr7:78806449-78806450	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563736794	chr7:78806455-78806456	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553425140	chr7:78806461-78806462	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532479000	chr7:78806497-78806498	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552661004	chr7:78806513-78806514	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573306495	chr7:78806545-78806546	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559248720	chr7:78806568-78806569	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150554904	chr7:78806604-78806605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535948631	chr7:78806657-78806658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368163573	chr7:78806660-78806661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530464492	chr7:78806667-78806668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574307887	chr7:78806673-78806674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538656938	chr7:78806686-78806687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188756095	chr7:78806693-78806694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548026248	chr7:78806712-78806713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537636044	chr7:78806776-78806777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181485609	chr7:78806783-78806784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574944605	chr7:78806821-78806822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143986042	chr7:78806824-78806825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542222291	chr7:78806843-78806844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545520758	chr7:78806854-78806855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559393712	chr7:78806907-78806908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528125043	chr7:78807069-78807070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184579309	chr7:78807082-78807083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562228033	chr7:78807117-78807118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531159439	chr7:78807158-78807159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568005018	chr7:78807166-78807167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190453947	chr7:78807167-78807168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571205901	chr7:78807195-78807196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182342887	chr7:78807210-78807211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546632289	chr7:78807236-78807237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560521470	chr7:78807292-78807293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117863480	chr7:78807315-78807316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186057666	chr7:78807334-78807335	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78804200-78806200	Enhancers	Brain Angular Gyrus	brain
2	chr7:78804800-78806200	Enhancers	Brain Cingulate Gyrus	brain
3	chr7:78805600-78806200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:78805600-78814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:78806000-78806200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:78806000-78806400	Active TSS	Osteobl	bone
7	chr7:78806200-78806400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:78806200-78806400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:78806200-78806400	Enhancers	Fetal Lung	lung
10	chr7:78806200-78806600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:78806200-78807000	Enhancers	Liver	Liver
12	chr7:78806600-78806800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:78806600-78807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:78806800-78807200	Enhancers	Fetal Heart	heart
15	chr7:78808800-78811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:78811200-78812400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:78811200-78812400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:78811400-78812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:78811400-78812000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:78811400-78812200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:78811400-78812400	Enhancers	NH-A	brain
22	chr7:78811600-78812000	Enhancers	NHEK	skin
23	chr7:78811600-78812200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:78811600-78812200	Enhancers	HMEC	breast
25	chr7:78811600-78812400	Enhancers	Osteobl	bone
26	chr7:78811800-78812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:78812000-78812400	Enhancers	NHLF	lung
28	chr7:78812000-78814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:78812000-78814200	Weak transcription	NHEK	skin
30	chr7:78812200-78814200	Weak transcription	HMEC	breast
31	chr7:78812400-78814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:78814200-78814800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:78814200-78815400	Enhancers	HMEC	breast
34	chr7:78814200-78816000	Enhancers	NHEK	skin
35	chr7:78814400-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:78814800-78815000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:78814800-78815600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:78815600-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:78822200-78822800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:78822800-78823200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:78823200-78823400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:78823400-78823800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:78823400-78829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:78823800-78824200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:78824200-78824800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:78829000-78829400	Enhancers	Osteobl	bone
47	chr7:78829000-78829600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:78829000-78829600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:78829000-78829800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:78829000-78831000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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