Variant report

Variant	nsv525410
Chromosome Location	chr7:18079091-18095821
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:18076800..18079636-chr7:18082013..18084271,2	MCF-7	breast:
2	chr7:18083618..18086351-chr7:18088635..18091366,2	K562	blood:
3	chr7:18086835..18088605-chr7:18090406..18092394,2	K562	blood:
4	chr7:18083711..18086360-chr7:18089871..18092747,2	MCF-7	breast:
5	chr7:18083711..18086360-chr7:18089871..18092747,2	MCF-7	breast:
6	chr7:18086835..18088605-chr7:18090406..18092394,2	K562	blood:
7	chr7:18076800..18079636-chr7:18082013..18084271,2	MCF-7	breast:
8	chr7:18083618..18086351-chr7:18088635..18091366,2	K562	blood:

No data

Extended variants
information (count: 645 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6977061	chr7:18079091-18079092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78945142	chr7:18079122-18079123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190148498	chr7:18079141-18079142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116248083	chr7:18079176-18079177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376791383	chr7:18079211-18079212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12699964	chr7:18079213-18079214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193163331	chr7:18079251-18079252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534796965	chr7:18079258-18079259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184173334	chr7:18079259-18079260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568139182	chr7:18079274-18079275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189390692	chr7:18079286-18079287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557015998	chr7:18079289-18079290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545425466	chr7:18079290-18079291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181832012	chr7:18079315-18079316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186715394	chr7:18079316-18079317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577871342	chr7:18079322-18079323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543219244	chr7:18079329-18079330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573404263	chr7:18079350-18079351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372413101	chr7:18079373-18079374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562099858	chr7:18079376-18079377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369176724	chr7:18079377-18079378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544272674	chr7:18079385-18079386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562558438	chr7:18079388-18079389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533141843	chr7:18079389-18079390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545723369	chr7:18079393-18079394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377332605	chr7:18079394-18079395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9639308	chr7:18079414-18079415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536045137	chr7:18079419-18079420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557315516	chr7:18079420-18079421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576068275	chr7:18079477-18079478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60978638	chr7:18079484-18079485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546785138	chr7:18079494-18079495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553375639	chr7:18079533-18079534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185187689	chr7:18079543-18079544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529012042	chr7:18079555-18079556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550677248	chr7:18079591-18079592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149402554	chr7:18079632-18079633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372920776	chr7:18079665-18079666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539437205	chr7:18079703-18079704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558206381	chr7:18079707-18079708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189453648	chr7:18079767-18079768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567162031	chr7:18079824-18079825	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559534129	chr7:18079841-18079842	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181440132	chr7:18079842-18079843	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573863061	chr7:18079855-18079856	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186602741	chr7:18079896-18079897	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs144806779	chr7:18079946-18079947	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147918292	chr7:18079974-18079975	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577665482	chr7:18080019-18080020	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs554603851	chr7:18080050-18080051	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Autism	20531469	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18078600-18079800	Enhancers	Fetal Heart	heart
2	chr7:18079600-18080200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:18079600-18080400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:18079600-18080400	Enhancers	Osteobl	bone
5	chr7:18079600-18080600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:18079600-18080600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:18079800-18080200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:18079800-18080200	Active TSS	Fetal Heart	heart
9	chr7:18079800-18080400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:18079800-18080400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:18079800-18080400	Enhancers	HSMMtube	muscle
12	chr7:18079800-18080800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:18079800-18081000	Enhancers	NH-A	brain
14	chr7:18079800-18081200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:18080000-18081200	Enhancers	Fetal Lung	lung
16	chr7:18080200-18080400	Flanking Active TSS	Fetal Heart	heart
17	chr7:18080200-18092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:18080400-18081400	Enhancers	Fetal Heart	heart
19	chr7:18080600-18081200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:18081200-18081400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:18081400-18085800	Weak transcription	Fetal Heart	heart
22	chr7:18085000-18086200	Enhancers	Fetal Kidney	kidney
23	chr7:18085800-18087600	Enhancers	Fetal Heart	heart
24	chr7:18086200-18086400	Weak transcription	Fetal Kidney	kidney
25	chr7:18086200-18086600	Enhancers	K562	blood
26	chr7:18086400-18087600	Enhancers	Fetal Kidney	kidney
27	chr7:18087000-18087600	Enhancers	Liver	Liver
28	chr7:18090000-18091000	Enhancers	Fetal Heart	heart
29	chr7:18091000-18095000	Weak transcription	Fetal Heart	heart
30	chr7:18092400-18093600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:18092800-18093200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:18095000-18095400	Enhancers	Fetal Heart	heart
33	chr7:18095400-18095800	Flanking Active TSS	Fetal Heart	heart
34	chr7:18095800-18096000	Enhancers	Fetal Heart	heart

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