Variant report

Variant	nsv523478
Chromosome Location	chr5:2075162-2091155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:2086623..2089378-chr5:2750285..2752647,2	MCF-7	breast:
2	chr21:27010354..27011260-chr5:2084826..2085485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186493	chromatin interactions
ENSG00000170561	chromatin interactions

Extended variants
information (count: 420 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10475134	chr5:2075162-2075163	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527404521	chr5:2075224-2075225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79864513	chr5:2075232-2075233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4320305	chr5:2075233-2075234	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552573016	chr5:2075249-2075250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4361563	chr5:2075282-2075283	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550095665	chr5:2075287-2075288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147861718	chr5:2075288-2075289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533323841	chr5:2075292-2075293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551800405	chr5:2075314-2075315	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4461678	chr5:2075343-2075344	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116378880	chr5:2075351-2075352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7701155	chr5:2075367-2075368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4312928	chr5:2075377-2075378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140445806	chr5:2075379-2075380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546968388	chr5:2075413-2075414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150410652	chr5:2075503-2075504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577920698	chr5:2075504-2075505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538220531	chr5:2075516-2075517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4361562	chr5:2075565-2075566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10035425	chr5:2075578-2075579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542685032	chr5:2075590-2075591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560866379	chr5:2075598-2075599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75207813	chr5:2075609-2075610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138204008	chr5:2075637-2075638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546981035	chr5:2075647-2075648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532467773	chr5:2075689-2075690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111749120	chr5:2075756-2075757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7701669	chr5:2075760-2075761	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs56125143	chr5:2075788-2075789	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111263903	chr5:2075793-2075794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549450246	chr5:2075794-2075795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567666563	chr5:2075797-2075798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538004852	chr5:2075851-2075852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7726574	chr5:2075925-2075926	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571576202	chr5:2075961-2075962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569741492	chr5:2075992-2075993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536811502	chr5:2076042-2076043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184050901	chr5:2076057-2076058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551957552	chr5:2076077-2076078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541710621	chr5:2076112-2076113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371171744	chr5:2076119-2076120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559739071	chr5:2076124-2076125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58265583	chr5:2076132-2076133	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535908371	chr5:2076141-2076142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61542846	chr5:2076143-2076144	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552537823	chr5:2076162-2076163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574405178	chr5:2076175-2076176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149155179	chr5:2076179-2076180	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145064956	chr5:2076187-2076188	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21364760	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2070400-2077200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:2073800-2077400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr5:2075600-2076400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:2076400-2077800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:2077800-2078600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:2078000-2078200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:2078000-2078600	Enhancers	HepG2	liver
8	chr5:2084400-2085000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:2084400-2085200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:2084600-2085000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:2084800-2085600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:2085200-2086000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:2085600-2087200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:2086000-2087200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:2087000-2087200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr5:2087200-2087400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:2087200-2087600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:2087200-2088200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:2087200-2088200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:2087400-2087800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:2087400-2088400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:2087600-2088000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:2087600-2088400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:2087800-2088000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:2087800-2088200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:2088200-2097000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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