Variant report

Variant	nsv1031915
Chromosome Location	chr7:80032898-80087603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80057471..80058066-chr7:80288234..80289022,3	MCF-7	breast:
2	chr7:80057560..80058347-chr7:80243745..80244716,2	MCF-7	breast:
3	chr7:80057613..80058392-chr7:80288390..80289288,3	MCF-7	breast:
4	chr7:80057501..80059024-chr7:80309987..80311233,7	MCF-7	breast:
5	chr7:79689612..79690202-chr7:80082690..80083447,3	MCF-7	breast:

Extended variants
information (count: 2174 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2174 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545961889	chr7:80033037-80033038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556591771	chr7:80033042-80033043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578098794	chr7:80033092-80033093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575215835	chr7:80033115-80033116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559847194	chr7:80033116-80033117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528266808	chr7:80033146-80033147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10486938	chr7:80033173-80033174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575656073	chr7:80033229-80033230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538223385	chr7:80033256-80033257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77631407	chr7:80033262-80033263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572630423	chr7:80033279-80033280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113740792	chr7:80033287-80033288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191959293	chr7:80033332-80033333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541968190	chr7:80033390-80033391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575048551	chr7:80033427-80033428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543938627	chr7:80033450-80033451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs496617	chr7:80033489-80033490	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372191558	chr7:80033519-80033520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117705785	chr7:80033570-80033571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552265044	chr7:80033625-80033626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530690110	chr7:80033670-80033671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs496621	chr7:80033789-80033790	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527581899	chr7:80033823-80033824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563715803	chr7:80033850-80033851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112246038	chr7:80033858-80033859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567126485	chr7:80033872-80033873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546405938	chr7:80033897-80033898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183016957	chr7:80033946-80033947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115201192	chr7:80034006-80034007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186740849	chr7:80034083-80034084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374959668	chr7:80034145-80034146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558267568	chr7:80034228-80034229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139521257	chr7:80034241-80034242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149657627	chr7:80034331-80034332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199610980	chr7:80034381-80034382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535019371	chr7:80034384-80034385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191879925	chr7:80034526-80034527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200746060	chr7:80034537-80034538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143210296	chr7:80034539-80034540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369622197	chr7:80034540-80034541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs581101	chr7:80034584-80034585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575100672	chr7:80034588-80034589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184064954	chr7:80034607-80034608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548768214	chr7:80034617-80034618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568684982	chr7:80034627-80034628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs511060	chr7:80034645-80034646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546218245	chr7:80034664-80034665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373423117	chr7:80034736-80034737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187583068	chr7:80034737-80034738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146672257	chr7:80034767-80034768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	22522925	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80029000-80035600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:80030400-80033200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:80030800-80034000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:80032400-80033800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:80032800-80033400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:80033200-80033600	Enhancers	HepG2	liver
7	chr7:80033200-80033800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:80033200-80033800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:80033200-80033800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:80033200-80034200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:80033200-80034200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:80033200-80034200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:80033200-80034400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:80033400-80039400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:80033800-80034200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:80033800-80041000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:80034000-80034800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:80034200-80060200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:80037400-80039400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:80039200-80039800	Enhancers	Osteobl	bone
21	chr7:80039200-80043200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:80039400-80039800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:80039400-80039800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:80039400-80040200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:80039400-80043000	Enhancers	NHDF-Ad	bronchial
26	chr7:80039600-80040000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:80039800-80041000	Weak transcription	Osteobl	bone
28	chr7:80039800-80041200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:80040000-80041000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:80040200-80042200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:80041000-80041200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:80041000-80041200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr7:80041000-80041400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:80041000-80041400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:80041000-80041400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:80041000-80043000	Enhancers	HMEC	breast
37	chr7:80041000-80043200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:80041000-80043200	Enhancers	NHEK	skin
39	chr7:80041000-80043200	Enhancers	Osteobl	bone
40	chr7:80041200-80043200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:80041400-80042400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:80041400-80042400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:80041400-80042600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:80041400-80042800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr7:80041400-80044400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:80042000-80043000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:80042200-80042800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:80042200-80043200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:80042400-80043200	Enhancers	Hela-S3	cervix
50	chr7:80042400-80043400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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