Variant report

Variant	esv19050
Chromosome Location	chr5:1653724-1654694
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	chr5:1651364..1654972-chr5:1656341..1659968,4	K562	blood:
2	chr5:1652097..1654972-chr5:1657057..1658557,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111997122	chr5:1653725-1653726	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs112381600	chr5:1653738-1653739	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112445842	chr5:1653751-1653752	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528911758	chr5:1653786-1653787	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550274402	chr5:1653788-1653789	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556746608	chr5:1653804-1653805	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs578211781	chr5:1653810-1653811	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs539172374	chr5:1653811-1653812	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs562911603	chr5:1653817-1653818	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs4029784	chr5:1653822-1653823	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11949822	chr5:1653837-1653838	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562025905	chr5:1653840-1653841	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs573553163	chr5:1653844-1653845	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs544099839	chr5:1653870-1653871	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs370557058	chr5:1653890-1653891	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs562382508	chr5:1653907-1653908	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs532945216	chr5:1653955-1653956	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs371844328	chr5:1653964-1653965	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs4029783	chr5:1653991-1653992	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs4029782	chr5:1654008-1654009	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs559964381	chr5:1654023-1654024	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs4524557	chr5:1654051-1654052	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs35790988	chr5:1654077-1654078	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs397883988	chr5:1654081-1654082	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527294198	chr5:1654082-1654083	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs548658283	chr5:1654204-1654205	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112001090	chr5:1654228-1654229	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538583754	chr5:1654235-1654236	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556718214	chr5:1654238-1654239	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578056435	chr5:1654244-1654245	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550482195	chr5:1654260-1654261	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73732162	chr5:1654268-1654269	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73732163	chr5:1654270-1654271	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11959625	chr5:1654287-1654288	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10054884	chr5:1654355-1654356	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10061861	chr5:1654386-1654387	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10054926	chr5:1654393-1654394	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10061867	chr5:1654400-1654401	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10061871	chr5:1654409-1654410	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576020074	chr5:1654412-1654413	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149678168	chr5:1654419-1654420	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183949256	chr5:1654432-1654433	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556016212	chr5:1654458-1654459	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116591393	chr5:1654572-1654573	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544841156	chr5:1654601-1654602	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540144016	chr5:1654615-1654616	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560200403	chr5:1654666-1654667	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527347624	chr5:1654668-1654669	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114361211	chr5:1654672-1654673	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56865570	chr5:1654681-1654682	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:113)

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	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	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
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
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1652600-1655000	Enhancers	Primary B cells from cord blood	blood
2	chr5:1652800-1653800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
3	chr5:1652800-1654000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:1652800-1654000	Bivalent Enhancer	Colon Smooth Muscle	Colon
5	chr5:1652800-1654200	Bivalent Enhancer	Placenta	Placenta
6	chr5:1652800-1654200	Enhancers	Pancreas	Pancrea
7	chr5:1653000-1653800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr5:1653000-1653800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
9	chr5:1653000-1653800	Bivalent Enhancer	Fetal Lung	lung
10	chr5:1653000-1653800	Bivalent Enhancer	Fetal Thymus	thymus
11	chr5:1653000-1653800	Bivalent Enhancer	NHDF-Ad	bronchial
12	chr5:1653000-1654000	Enhancers	Fetal Heart	heart
13	chr5:1653000-1654000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr5:1653000-1654600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr5:1653000-1654600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr5:1653000-1654600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr5:1653000-1654800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:1653000-1654800	Enhancers	Spleen	Spleen
19	chr5:1653200-1653800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:1653200-1653800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:1653200-1653800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr5:1653200-1653800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr5:1653200-1653800	Bivalent Enhancer	Left Ventricle	heart
24	chr5:1653200-1653800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr5:1653200-1653800	Bivalent Enhancer	NHEK	skin
26	chr5:1653200-1654000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
27	chr5:1653200-1654200	Bivalent Enhancer	Esophagus	oesophagus
28	chr5:1653200-1654400	Flanking Active TSS	Dnd41	blood
29	chr5:1653400-1653800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr5:1653400-1653800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:1653400-1653800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:1653400-1653800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr5:1653400-1654000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:1653400-1654000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:1653400-1654200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr5:1653400-1654400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:1653400-1654600	Bivalent Enhancer	Fetal Brain Male	brain
38	chr5:1653400-1654600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr5:1653600-1653800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:1653600-1653800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:1653600-1653800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:1653600-1653800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:1653600-1653800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:1653600-1653800	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood

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