Variant report

Variant	esv3425269
Chromosome Location	chr5:44461244-44487601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 774 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79052216	chr5:44466814-44466815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138277275	chr5:44466868-44466869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112109055	chr5:44466883-44466884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541423258	chr5:44466897-44466898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149612934	chr5:44466923-44466924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533699135	chr5:44466949-44466950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78120791	chr5:44466970-44466971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563624134	chr5:44466999-44467000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144416344	chr5:44467033-44467034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56313556	chr5:44467090-44467091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567819656	chr5:44467122-44467123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533897149	chr5:44467127-44467128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186294263	chr5:44467160-44467161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570326781	chr5:44467208-44467209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539400273	chr5:44467215-44467216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191072340	chr5:44467222-44467223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2086655	chr5:44467224-44467225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141002765	chr5:44467228-44467229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143456538	chr5:44467233-44467234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572586329	chr5:44467247-44467248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541136303	chr5:44467259-44467260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577121445	chr5:44467260-44467261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182444969	chr5:44467261-44467262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577985368	chr5:44467262-44467263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368001319	chr5:44467263-44467264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538037897	chr5:44467278-44467279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543790929	chr5:44467302-44467303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147143819	chr5:44467304-44467305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529499110	chr5:44467340-44467341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2128431	chr5:44467356-44467357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs559488353	chr5:44467380-44467381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574657669	chr5:44467381-44467382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527404708	chr5:44467410-44467411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188359620	chr5:44467447-44467448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374265865	chr5:44467535-44467536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549491711	chr5:44467574-44467575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192767889	chr5:44467586-44467587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570513810	chr5:44467606-44467607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539106398	chr5:44467679-44467680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549699764	chr5:44467702-44467703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142114463	chr5:44467786-44467787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535711787	chr5:44467794-44467795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368797510	chr5:44467807-44467808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555622318	chr5:44467811-44467812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368467345	chr5:44467832-44467833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572297025	chr5:44467842-44467843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541895405	chr5:44467878-44467879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558010276	chr5:44467884-44467885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151158006	chr5:44467893-44467894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182484375	chr5:44467907-44467908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44466800-44468600	Weak transcription	Fetal Lung	lung
2	chr5:44467800-44468200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:44468000-44468200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:44468000-44469000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:44468400-44469000	ZNF genes & repeats	Fetal Stomach	stomach
6	chr5:44468600-44469000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
7	chr5:44468600-44469200	Strong transcription	Fetal Lung	lung
8	chr5:44469200-44475000	Weak transcription	Fetal Lung	lung
9	chr5:44475000-44475600	ZNF genes & repeats	Fetal Lung	lung
10	chr5:44475000-44476600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:44475600-44479400	Weak transcription	Fetal Lung	lung
12	chr5:44476400-44476800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr5:44476600-44476800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:44476600-44477800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:44476800-44477800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:44477000-44477800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:44477000-44477800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:44477400-44477800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:44477800-44478000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:44477800-44479200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:44477800-44479200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:44477800-44479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:44477800-44480600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:44478000-44480000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr5:44479200-44480200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr5:44479200-44480400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr5:44479200-44480400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr5:44479400-44479800	ZNF genes & repeats	Fetal Lung	lung
29	chr5:44479800-44491800	Weak transcription	Fetal Lung	lung
30	chr5:44480200-44482800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:44480400-44480600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr5:44480400-44481600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:44480400-44482200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:44480600-44482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:44480800-44481000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:44480800-44481000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:44481000-44481600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:44481000-44482000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:44481600-44482800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:44481600-44483000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:44481600-44483200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:44481600-44483200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:44481800-44483400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:44482000-44483600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:44482200-44482600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr5:44482200-44483400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:44482400-44482600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:44482400-44482800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr5:44482600-44483000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:44482800-44483000	Enhancers	H1 Cell Line	embryonic stem cell

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