Variant report

Variant	nsv464603
Chromosome Location	chr7:80030601-80064727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80057501..80059024-chr7:80309987..80311233,7	MCF-7	breast:
2	chr7:80057471..80058066-chr7:80288234..80289022,3	MCF-7	breast:
3	chr7:80057613..80058392-chr7:80288390..80289288,3	MCF-7	breast:
4	chr7:80057560..80058347-chr7:80243745..80244716,2	MCF-7	breast:

Extended variants
information (count: 1322 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1322 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573316	chr7:80030601-80030602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535752814	chr7:80030621-80030622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555655400	chr7:80030658-80030659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181996784	chr7:80030670-80030671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185514342	chr7:80030684-80030685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544389418	chr7:80030747-80030748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73384780	chr7:80030752-80030753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577645728	chr7:80030799-80030800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113562511	chr7:80030830-80030831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570687	chr7:80030862-80030863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528835379	chr7:80030882-80030883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542934124	chr7:80030888-80030889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189175239	chr7:80030936-80030937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149551538	chr7:80030964-80030965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551535084	chr7:80031003-80031004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181067420	chr7:80031047-80031048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35145696	chr7:80031077-80031078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568055133	chr7:80031096-80031097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1108920	chr7:80031160-80031161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562467	chr7:80031198-80031199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567656948	chr7:80031238-80031239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536623372	chr7:80031243-80031244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555718093	chr7:80031245-80031246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569157802	chr7:80031262-80031263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147248892	chr7:80031263-80031264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs118003506	chr7:80031264-80031265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139316618	chr7:80031278-80031279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540324371	chr7:80031288-80031289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539143019	chr7:80031394-80031395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143344301	chr7:80031398-80031399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565829	chr7:80031419-80031420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542200120	chr7:80031426-80031427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185910139	chr7:80031448-80031449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190235618	chr7:80031485-80031486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117082674	chr7:80031499-80031500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112191183	chr7:80031728-80031729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11352044	chr7:80031740-80031741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527836897	chr7:80031766-80031767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547894532	chr7:80031767-80031768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567621988	chr7:80031779-80031780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17153821	chr7:80031780-80031781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs17153826	chr7:80031798-80031799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371674454	chr7:80031852-80031853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569222617	chr7:80031982-80031983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201617665	chr7:80032021-80032022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538129128	chr7:80032035-80032036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535261314	chr7:80032048-80032049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538367245	chr7:80032090-80032091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555208138	chr7:80032111-80032112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557729677	chr7:80032123-80032124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Cancer	20164919	CNVD
Breast cancer	21611746	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80028800-80030800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:80029000-80035600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:80029400-80030800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:80030000-80031000	Weak transcription	Liver	Liver
5	chr7:80030400-80033200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:80030800-80032000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:80030800-80034000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:80031000-80031600	Enhancers	Liver	Liver
9	chr7:80031400-80031800	Enhancers	Fetal Intestine Small	intestine
10	chr7:80032400-80033800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:80032800-80033400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:80033200-80033600	Enhancers	HepG2	liver
13	chr7:80033200-80033800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:80033200-80033800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:80033200-80033800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:80033200-80034200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:80033200-80034200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:80033200-80034200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:80033200-80034400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:80033400-80039400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:80033800-80034200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:80033800-80041000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:80034000-80034800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:80034200-80060200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:80037400-80039400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:80039200-80039800	Enhancers	Osteobl	bone
27	chr7:80039200-80043200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:80039400-80039800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:80039400-80039800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:80039400-80040200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:80039400-80043000	Enhancers	NHDF-Ad	bronchial
32	chr7:80039600-80040000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:80039800-80041000	Weak transcription	Osteobl	bone
34	chr7:80039800-80041200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:80040000-80041000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:80040200-80042200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:80041000-80041200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:80041000-80041200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:80041000-80041400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:80041000-80041400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:80041000-80041400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:80041000-80043000	Enhancers	HMEC	breast
43	chr7:80041000-80043200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:80041000-80043200	Enhancers	NHEK	skin
45	chr7:80041000-80043200	Enhancers	Osteobl	bone
46	chr7:80041200-80043200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:80041400-80042400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:80041400-80042400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:80041400-80042600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:80041400-80042800	Enhancers	Pancreatic Islets	Pancreatic Islet

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