Variant report

Variant	nsv1024001
Chromosome Location	chr7:53186040-53239605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:
2	chr17:25277426..25278160-chr7:53200570..53201453,2	MCF-7	breast:
3	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:

Extended variants
information (count: 523 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6954000	chr7:53186040-53186041	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368251588	chr7:53186092-53186093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191442198	chr7:53186104-53186105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148477067	chr7:53186120-53186121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6967161	chr7:53186136-53186137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6967173	chr7:53186151-53186152	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535930251	chr7:53186189-53186190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568627022	chr7:53186215-53186216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187108063	chr7:53186272-53186273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193076581	chr7:53186306-53186307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6593050	chr7:53186329-53186330	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371850079	chr7:53186360-53186361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576761171	chr7:53186373-53186374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555584362	chr7:53186374-53186375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7787759	chr7:53186385-53186386	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs386713334	chr7:53186453-53186454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1949869	chr7:53186456-53186457	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142704804	chr7:53186569-53186570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375255440	chr7:53186639-53186640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575471597	chr7:53186695-53186696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58970111	chr7:53186713-53186714	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564133838	chr7:53186757-53186758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146538290	chr7:53186779-53186780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539873361	chr7:53186782-53186783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370474496	chr7:53186812-53186813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185228149	chr7:53186825-53186826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527870810	chr7:53186834-53186835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200340885	chr7:53186851-53186852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5884300	chr7:53186856-53186857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36050613	chr7:53186857-53186858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2330278	chr7:53186858-53186859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528823220	chr7:53186860-53186861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34504262	chr7:53186868-53186869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3030278	chr7:53186875-53186876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548822224	chr7:53186892-53186893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190517113	chr7:53186920-53186921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530982659	chr7:53186921-53186922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550678512	chr7:53186950-53186951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1404884	chr7:53186989-53186990	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs61432411	chr7:53186994-53186995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370796571	chr7:53186995-53186996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547221338	chr7:53186996-53186997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60944944	chr7:53186997-53186998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546728326	chr7:53186998-53186999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201029595	chr7:53187000-53187001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566851390	chr7:53187001-53187002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10279619	chr7:53187063-53187064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555591417	chr7:53187067-53187068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575524305	chr7:53187104-53187105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183623619	chr7:53187137-53187138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53185600-53189200	Weak transcription	Fetal Heart	heart
2	chr7:53185600-53189400	Enhancers	HUVEC	blood vessel
3	chr7:53185800-53188400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:53186600-53188200	Enhancers	NH-A	brain
5	chr7:53187000-53187200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:53187200-53187800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:53187200-53187800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:53187400-53187800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:53187400-53187800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:53187400-53187800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:53187400-53187800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:53187400-53187800	Enhancers	Aorta	Aorta
13	chr7:53187400-53187800	Enhancers	Brain Germinal Matrix	brain
14	chr7:53187400-53187800	Enhancers	Ovary	ovary
15	chr7:53187400-53187800	Enhancers	Spleen	Spleen
16	chr7:53187800-53188000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:53188400-53188800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:53188800-53189600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:53189200-53189400	Enhancers	Fetal Heart	heart
20	chr7:53189200-53189400	ZNF genes & repeats	Gastric	stomach
21	chr7:53189200-53189400	Enhancers	Left Ventricle	heart
22	chr7:53189600-53190200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:53190200-53190400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:53193800-53194400	Enhancers	Ovary	ovary
25	chr7:53202000-53202200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:53202200-53203400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:53203400-53203600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:53214000-53214400	Enhancers	Brain Germinal Matrix	brain
29	chr7:53214000-53215400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:53214200-53214400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:53220000-53220200	ZNF genes & repeats	Gastric	stomach
32	chr7:53233200-53233600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:53233800-53234400	Active TSS	A549	lung
34	chr7:53236400-53236800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:53236600-53237000	Enhancers	HUES48 Cell Line	embryonic stem cell

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