Variant report

Variant	esv17894
Chromosome Location	chr5:49405763-49442098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2408 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2408 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369958208	chr5:49405769-49405770	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs373469252	chr5:49405772-49405773	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201175518	chr5:49405774-49405775	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577543754	chr5:49405798-49405799	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs202231512	chr5:49405802-49405803	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs201468330	chr5:49405829-49405830	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs370214254	chr5:49405844-49405845	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs62390079	chr5:49405845-49405846	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs543377684	chr5:49405861-49405862	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs62390080	chr5:49405868-49405869	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs556794394	chr5:49405870-49405871	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs202107721	chr5:49405874-49405875	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs542461104	chr5:49405878-49405879	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs377155278	chr5:49405900-49405901	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs79070957	chr5:49405904-49405905	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs62390081	chr5:49405921-49405922	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs201985187	chr5:49405931-49405932	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs80213127	chr5:49405939-49405940	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs62390082	chr5:49405960-49405961	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs62390083	chr5:49405972-49405973	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs62390084	chr5:49405977-49405978	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs374998335	chr5:49405978-49405979	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs201543481	chr5:49405983-49405984	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs372610217	chr5:49405992-49405993	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs148351410	chr5:49405997-49405998	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs112270606	chr5:49406000-49406001	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs149325353	chr5:49406005-49406006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151146064	chr5:49406006-49406007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147094800	chr5:49406008-49406009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141438296	chr5:49406016-49406017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139897728	chr5:49406017-49406018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140213712	chr5:49406021-49406022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142586044	chr5:49406024-49406025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143669060	chr5:49406032-49406033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150766826	chr5:49406033-49406034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145663251	chr5:49406036-49406037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112296704	chr5:49406041-49406042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151293818	chr5:49406045-49406046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144975470	chr5:49406048-49406049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147153788	chr5:49406050-49406051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370019960	chr5:49406058-49406059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149843266	chr5:49406059-49406060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112407442	chr5:49406060-49406061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149097555	chr5:49406064-49406065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376195233	chr5:49406074-49406075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368603937	chr5:49406075-49406076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371570445	chr5:49406085-49406086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375955379	chr5:49406095-49406096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144312326	chr5:49406125-49406126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113359392	chr5:49406142-49406143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49405600-49405800	Bivalent/Poised TSS	Right Atrium	heart
2	chr5:49405600-49406000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr5:49405600-49406000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:49405600-49406000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:49405600-49406000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr5:49405600-49406000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr5:49405600-49406000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:49405600-49406000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:49405600-49406000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:49405600-49406000	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr5:49405600-49406000	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr5:49405600-49406000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
13	chr5:49405600-49406000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr5:49405600-49406000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
15	chr5:49405600-49406000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:49405600-49406000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:49405600-49406000	ZNF genes & repeats	Aorta	Aorta
18	chr5:49405600-49406000	ZNF genes & repeats	Liver	Liver
19	chr5:49405600-49406000	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr5:49405600-49406000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:49405600-49406000	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr5:49405600-49406000	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr5:49405600-49406000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr5:49405600-49406000	ZNF genes & repeats	Fetal Brain Male	brain
25	chr5:49405600-49406000	ZNF genes & repeats	Fetal Heart	heart
26	chr5:49405600-49406000	ZNF genes & repeats	Fetal Lung	lung
27	chr5:49405600-49406000	ZNF genes & repeats	Left Ventricle	heart
28	chr5:49405600-49406000	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
29	chr5:49405600-49406000	ZNF genes & repeats	Psoas Muscle	Psoas
30	chr5:49405600-49406000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
31	chr5:49405600-49406000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
32	chr5:49405600-49406000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr5:49405600-49406000	ZNF genes & repeats	Stomach Mucosa	stomach
34	chr5:49405600-49406000	ZNF genes & repeats	Thymus	Thymus
35	chr5:49405600-49406000	ZNF genes & repeats	NH-A	brain
36	chr5:49405600-49406200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr5:49405600-49406200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:49405600-49406200	ZNF genes & repeats	Small Intestine	intestine
39	chr5:49405800-49406000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
40	chr5:49405800-49406000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:49405800-49406000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:49405800-49406000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr5:49405800-49406000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:49405800-49406000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:49405800-49406000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr5:49405800-49406000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
47	chr5:49405800-49406000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr5:49405800-49406000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:49405800-49406000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:49405800-49406000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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