Variant report

Variant	nsv888521
Chromosome Location	chr7:79371206-79483480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:79412469..79414428-chr7:79417950..79420307,2	K562	blood:
2	chr7:79412469..79414428-chr7:79417950..79420307,2	K562	blood:
3	chr7:79453655..79455160-chr7:79459736..79461374,2	K562	blood:
4	chr7:78927254..78927762-chr7:79370740..79371579,2	MCF-7	breast:
5	chr7:79453655..79455160-chr7:79459736..79461374,2	K562	blood:
6	chr7:79453655..79455461-chr7:79459874..79462573,2	K562	blood:
7	chr7:79453655..79455461-chr7:79459874..79462573,2	K562	blood:
8	chr7:79363150..79365302-chr7:79371609..79373122,2	K562	blood:
9	chr7:79435821..79436734-chr7:79648179..79648888,3	MCF-7	breast:

No data

Extended variants
information (count: 2038 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2038 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2714702	chr7:79371206-79371207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190084257	chr7:79371208-79371209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555390821	chr7:79371257-79371258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10251224	chr7:79371286-79371287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532199708	chr7:79371316-79371317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370492388	chr7:79371319-79371320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148578229	chr7:79371322-79371323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559519949	chr7:79371333-79371334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529929902	chr7:79371350-79371351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528090927	chr7:79371373-79371374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554337455	chr7:79371382-79371383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549854404	chr7:79371401-79371402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568728295	chr7:79371422-79371423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569592948	chr7:79371423-79371424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551126052	chr7:79371444-79371445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1523834	chr7:79371455-79371456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs201797993	chr7:79371534-79371535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192910232	chr7:79371553-79371554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552221200	chr7:79371564-79371565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2707915	chr7:79371592-79371593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs578125818	chr7:79371650-79371651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113352637	chr7:79371673-79371674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534742394	chr7:79371690-79371691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563961885	chr7:79371707-79371708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535420556	chr7:79371725-79371726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555346210	chr7:79371753-79371754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189530145	chr7:79371755-79371756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536963579	chr7:79371789-79371790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75091465	chr7:79371814-79371815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112168152	chr7:79371817-79371818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113653834	chr7:79371854-79371855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112517927	chr7:79371941-79371942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572982346	chr7:79371966-79371967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371910891	chr7:79371978-79371979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554395636	chr7:79372018-79372019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34616646	chr7:79372032-79372033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397890902	chr7:79372033-79372034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111451423	chr7:79372060-79372061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536901151	chr7:79372064-79372065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs16886625	chr7:79372111-79372112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556592178	chr7:79372151-79372152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188640197	chr7:79372169-79372170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569170790	chr7:79372240-79372241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147714774	chr7:79372254-79372255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142562112	chr7:79372358-79372359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576353389	chr7:79372382-79372383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111289095	chr7:79372395-79372396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546829159	chr7:79372402-79372403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186349915	chr7:79372416-79372417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17147916	chr7:79372473-79372474	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79370000-79372800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:79380400-79381000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:79391200-79391800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:79391400-79391800	Enhancers	Dnd41	blood
5	chr7:79391800-79396000	Weak transcription	Dnd41	blood
6	chr7:79396000-79396200	Enhancers	Dnd41	blood
7	chr7:79396200-79396800	Flanking Active TSS	Dnd41	blood
8	chr7:79396800-79397400	Enhancers	Dnd41	blood
9	chr7:79397200-79397800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:79397800-79399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:79398000-79398600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:79398600-79399000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:79398600-79399000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:79398600-79399200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:79398600-79402000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:79399000-79399400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:79399000-79399400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:79399000-79399400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:79399000-79399400	Enhancers	Fetal Lung	lung
20	chr7:79399000-79399600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:79399000-79399600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr7:79399000-79401200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:79399200-79399600	Enhancers	Fetal Heart	heart
24	chr7:79399200-79400600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:79399200-79400800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:79399400-79404800	Weak transcription	Fetal Lung	lung
27	chr7:79399400-79411000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:79402000-79402400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr7:79404800-79405800	Enhancers	Fetal Lung	lung
30	chr7:79405800-79406600	Weak transcription	Fetal Lung	lung
31	chr7:79407000-79407800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr7:79407200-79407600	Enhancers	Fetal Heart	heart
33	chr7:79407200-79408200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:79407200-79408600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:79407600-79408200	Enhancers	Osteobl	bone
36	chr7:79407600-79408400	Enhancers	HMEC	breast
37	chr7:79407600-79410800	Weak transcription	Fetal Heart	heart
38	chr7:79407800-79408000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:79407800-79408400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:79407800-79408600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr7:79407800-79408800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:79407800-79409000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:79407800-79409000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:79407800-79409000	Enhancers	NHLF	lung
45	chr7:79408000-79408400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:79408000-79408600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr7:79408000-79409000	Enhancers	NH-A	brain
48	chr7:79408000-79409200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:79408200-79408400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:79408200-79408400	Enhancers	NHDF-Ad	bronchial

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