Variant report

Variant	esv20103
Chromosome Location	chr5:1620571-1624351
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	chr5:1555041..1557212-chr5:1618820..1621277,2	MCF-7	breast:

Extended variants
information (count: 238 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554352626	chr5:1620627-1620628	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374740784	chr5:1620658-1620659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536607725	chr5:1620661-1620662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367688371	chr5:1620669-1620670	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184206836	chr5:1620699-1620700	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186989634	chr5:1620707-1620708	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371466714	chr5:1620741-1620742	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60782936	chr5:1620758-1620759	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556076217	chr5:1620759-1620760	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56083971	chr5:1620764-1620765	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs57254666	chr5:1620771-1620772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544879977	chr5:1620791-1620792	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551035442	chr5:1620806-1620807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559776689	chr5:1620819-1620820	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571825476	chr5:1620821-1620822	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192903649	chr5:1620868-1620869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557480555	chr5:1620886-1620887	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114148598	chr5:1620914-1620915	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550488831	chr5:1620942-1620943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565332830	chr5:1620961-1620962	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532690461	chr5:1620963-1620964	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548018484	chr5:1620968-1620969	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199723752	chr5:1621011-1621012	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566144415	chr5:1621018-1621019	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369063771	chr5:1621027-1621028	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10042068	chr5:1621047-1621048	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs184502949	chr5:1621049-1621050	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543396692	chr5:1621073-1621074	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556378228	chr5:1621082-1621083	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376387766	chr5:1621111-1621112	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567895886	chr5:1621158-1621159	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1827192	chr5:1621184-1621185	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72717596	chr5:1621185-1621186	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs189383308	chr5:1621206-1621207	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571788751	chr5:1621246-1621247	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542344917	chr5:1621250-1621251	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140189571	chr5:1621259-1621260	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182219779	chr5:1621277-1621278	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143974572	chr5:1621300-1621301	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184608724	chr5:1621303-1621304	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34874042	chr5:1621305-1621306	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547981545	chr5:1621329-1621330	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560016134	chr5:1621402-1621403	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530208571	chr5:1621480-1621481	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554242322	chr5:1621513-1621514	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572560835	chr5:1621525-1621526	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189007815	chr5:1621526-1621527	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552306147	chr5:1621536-1621537	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6874406	chr5:1621555-1621556	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555221430	chr5:1621556-1621557	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
XY gonadal dysgenesis	20685758	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1595000-1626600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:1595000-1634000	Weak transcription	Stomach Mucosa	stomach
3	chr5:1595200-1632800	Weak transcription	Brain Angular Gyrus	brain
4	chr5:1595200-1632800	Weak transcription	Right Ventricle	heart
5	chr5:1595400-1633200	Weak transcription	Primary B cells from cord blood	blood
6	chr5:1595400-1633200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:1595400-1633200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:1595400-1633200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:1597600-1621400	Weak transcription	Brain Substantia Nigra	brain
10	chr5:1597600-1621800	Weak transcription	Ovary	ovary
11	chr5:1597600-1626400	Weak transcription	Adipose Nuclei	Adipose
12	chr5:1597600-1632600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:1597600-1632800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:1597600-1632800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:1597600-1633000	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:1601400-1632800	Weak transcription	Hela-S3	cervix
17	chr5:1601800-1620600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:1606200-1633200	Weak transcription	Brain Anterior Caudate	brain
19	chr5:1607600-1621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:1607600-1626600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:1607800-1623800	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:1608000-1620600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:1608000-1624200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:1608400-1626400	Weak transcription	Pancreas	Pancrea
25	chr5:1608600-1620800	Weak transcription	Brain Germinal Matrix	brain
26	chr5:1608800-1624600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:1608800-1632800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:1608800-1633800	Weak transcription	Fetal Lung	lung
29	chr5:1609200-1633200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:1609200-1633200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:1609600-1633600	Weak transcription	Left Ventricle	heart
32	chr5:1609800-1626400	Weak transcription	HepG2	liver
33	chr5:1610000-1621600	Weak transcription	Fetal Kidney	kidney
34	chr5:1610000-1624400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:1610000-1633400	Weak transcription	Colonic Mucosa	Colon
36	chr5:1610600-1632800	Weak transcription	NHEK	skin
37	chr5:1610600-1633200	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:1611200-1624000	Weak transcription	Esophagus	oesophagus
39	chr5:1611800-1633800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:1612200-1624400	Weak transcription	Aorta	Aorta
41	chr5:1612800-1621200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:1613200-1633200	Weak transcription	HSMMtube	muscle
43	chr5:1613800-1621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:1613800-1633800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:1617000-1621800	Strong transcription	Fetal Stomach	stomach
46	chr5:1617000-1622400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:1617000-1633200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:1617200-1621400	Strong transcription	Thymus	Thymus
49	chr5:1617200-1621600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:1617200-1622200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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