Variant report

Variant	esv3323960
Chromosome Location	chr5:5305344-5305748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 24 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141813159	chr5:5305386-5305387	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201503621	chr5:5305420-5305421	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs199801269	chr5:5305428-5305429	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs376055728	chr5:5305440-5305441	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs62642440	chr5:5305447-5305448	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs112989316	chr5:5305479-5305480	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs371124923	chr5:5305485-5305486	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs112974481	chr5:5305507-5305508	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs368456959	chr5:5305508-5305509	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs573885663	chr5:5305542-5305543	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs184253318	chr5:5305544-5305545	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs201344775	chr5:5305565-5305566	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs74742016	chr5:5305602-5305603	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs72491370	chr5:5305627-5305628	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs202070965	chr5:5305637-5305638	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200668199	chr5:5305654-5305655	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531899127	chr5:5305664-5305665	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200294249	chr5:5305672-5305673	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201825328	chr5:5305675-5305676	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs374074929	chr5:5305705-5305706	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377134881	chr5:5305706-5305707	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138142823	chr5:5305729-5305730	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556795085	chr5:5305730-5305731	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs149145145	chr5:5305745-5305746	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5302400-5312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:5302600-5307400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:5302800-5307000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:5303200-5305400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:5303800-5305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:5304000-5307800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:5304400-5305400	Enhancers	Liver	Liver
8	chr5:5304400-5305600	Enhancers	Psoas Muscle	Psoas
9	chr5:5304600-5305600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:5304600-5305800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:5304800-5305400	Enhancers	Brain Substantia Nigra	brain
12	chr5:5304800-5305400	Enhancers	HMEC	breast
13	chr5:5304800-5306600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:5304800-5312200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:5305000-5305400	ZNF genes & repeats	Fetal Kidney	kidney
16	chr5:5305000-5305400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr5:5305000-5305600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr5:5305000-5305600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:5305000-5305600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:5305000-5305600	Active TSS	Fetal Lung	lung
21	chr5:5305000-5305600	Flanking Bivalent TSS/Enh	Gastric	stomach
22	chr5:5305000-5305600	ZNF genes & repeats	Hela-S3	cervix
23	chr5:5305000-5305600	Strong transcription	NH-A	brain
24	chr5:5305000-5305800	ZNF genes & repeats	Pancreas	Pancrea
25	chr5:5305000-5306000	ZNF genes & repeats	Esophagus	oesophagus
26	chr5:5305000-5306000	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:5305000-5306800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:5305000-5311400	Strong transcription	Ovary	ovary
29	chr5:5305200-5305400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:5305200-5305400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:5305200-5305400	Enhancers	Right Ventricle	heart
32	chr5:5305200-5305400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr5:5305200-5305400	ZNF genes & repeats	NHLF	lung
34	chr5:5305200-5305600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:5305200-5305600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:5305200-5305600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:5305200-5305600	Enhancers	Right Atrium	heart
38	chr5:5305200-5305600	ZNF genes & repeats	Spleen	Spleen
39	chr5:5305200-5306800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:5305400-5305600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:5305400-5305600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:5305400-5305600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr5:5305400-5305800	Strong transcription	Fetal Kidney	kidney
44	chr5:5305400-5306400	Weak transcription	HMEC	breast
45	chr5:5305400-5306800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:5305400-5307000	Weak transcription	NHEK	skin
47	chr5:5305600-5306000	Weak transcription	Spleen	Spleen
48	chr5:5305600-5306600	Weak transcription	NH-A	brain
49	chr5:5305600-5307000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:5305600-5307600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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