Variant report

Variant	esv3352829
Chromosome Location	chr5:5304052-5306650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:5304202..5306167-chr5:5310492..5313032,2	K562	blood:
2	chr5:5302322..5304229-chr5:5305054..5307757,2	K562	blood:
3	chr5:5304478..5306308-chr5:5307574..5310216,2	MCF-7	breast:
4	chr5:5302322..5304229-chr5:5305054..5307757,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116098534	chr5:5304097-5304098	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193266624	chr5:5304101-5304102	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77517061	chr5:5304108-5304109	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142162896	chr5:5304131-5304132	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10223220	chr5:5304154-5304155	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531409298	chr5:5304187-5304188	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549614567	chr5:5304188-5304189	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184181279	chr5:5304245-5304246	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374867091	chr5:5304251-5304252	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530565759	chr5:5304255-5304256	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs116233135	chr5:5304319-5304320	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570589970	chr5:5304335-5304336	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533128339	chr5:5304340-5304341	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546790684	chr5:5304393-5304394	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs566789476	chr5:5304395-5304396	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532448513	chr5:5304425-5304426	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547673203	chr5:5304438-5304439	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535709671	chr5:5304455-5304456	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201680365	chr5:5304513-5304514	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73023577	chr5:5304514-5304515	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569233737	chr5:5304532-5304533	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189462258	chr5:5304533-5304534	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558206782	chr5:5304545-5304546	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs73023579	chr5:5304559-5304560	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72726039	chr5:5304604-5304605	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535955341	chr5:5304612-5304613	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs55961982	chr5:5304621-5304622	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs573995728	chr5:5304622-5304623	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542909424	chr5:5304640-5304641	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79943945	chr5:5304643-5304644	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530510459	chr5:5304670-5304671	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs181121013	chr5:5304691-5304692	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs536740146	chr5:5304781-5304782	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564230145	chr5:5304801-5304802	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs533025678	chr5:5304821-5304822	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs558569680	chr5:5304839-5304840	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576383154	chr5:5304868-5304869	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs115183583	chr5:5304878-5304879	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184139822	chr5:5304883-5304884	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs35839096	chr5:5304913-5304914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs76851197	chr5:5304917-5304918	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569194612	chr5:5304925-5304926	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs538258005	chr5:5304987-5304988	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188931591	chr5:5304991-5304992	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571721965	chr5:5305017-5305018	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs139164157	chr5:5305077-5305078	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs200289759	chr5:5305093-5305094	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs533982539	chr5:5305095-5305096	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs201782122	chr5:5305118-5305119	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs199601093	chr5:5305157-5305158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	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
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
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
Breast cancer	21364760	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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5302400-5304600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:5302400-5305000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:5302400-5305000	Weak transcription	Ovary	ovary
4	chr5:5302400-5305000	Weak transcription	NH-A	brain
5	chr5:5302400-5312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:5302600-5304400	Weak transcription	Liver	Liver
7	chr5:5302600-5305200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:5302600-5307400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:5302800-5305000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:5302800-5307000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:5303200-5304600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:5303200-5305400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:5303800-5304200	Enhancers	Fetal Muscle Trunk	muscle
14	chr5:5303800-5304400	Enhancers	Adipose Nuclei	Adipose
15	chr5:5303800-5305200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:5303800-5305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:5304000-5304200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:5304000-5305000	Enhancers	Fetal Muscle Leg	muscle
19	chr5:5304000-5307800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:5304200-5304600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:5304200-5304800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:5304200-5305000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr5:5304400-5304600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:5304400-5305400	Enhancers	Liver	Liver
25	chr5:5304400-5305600	Enhancers	Psoas Muscle	Psoas
26	chr5:5304600-5304800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:5304600-5304800	Enhancers	Fetal Muscle Trunk	muscle
28	chr5:5304600-5304800	Enhancers	Pancreas	Pancrea
29	chr5:5304600-5305000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:5304600-5305000	Weak transcription	Fetal Kidney	kidney
31	chr5:5304600-5305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:5304600-5305200	Enhancers	Spleen	Spleen
33	chr5:5304600-5305600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:5304600-5305800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:5304800-5305000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:5304800-5305000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:5304800-5305000	Weak transcription	Pancreas	Pancrea
38	chr5:5304800-5305000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr5:5304800-5305400	Enhancers	Brain Substantia Nigra	brain
40	chr5:5304800-5305400	Enhancers	HMEC	breast
41	chr5:5304800-5306600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:5304800-5312200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:5305000-5305200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:5305000-5305200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:5305000-5305200	Enhancers	NHEK	skin
46	chr5:5305000-5305400	ZNF genes & repeats	Fetal Kidney	kidney
47	chr5:5305000-5305400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr5:5305000-5305600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr5:5305000-5305600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:5305000-5305600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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