Variant report

Variant	esv3469184
Chromosome Location	chr5:44792995-44797493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:44792884..44795395-chr5:44807561..44809929,2	MCF-7	breast:
2	chr5:44796042..44798204-chr5:44807036..44809838,2	K562	blood:
3	chr5:44796071..44797749-chr5:44808242..44810334,2	MCF-7	breast:
4	chr5:44794554..44800071-chr5:44801416..44804503,5	K562	blood:

Variant related genes	Relation type
ENSG00000112996	chromatin interactions
ENSG00000251141	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551746509	chr5:44793026-44793027	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187184134	chr5:44793039-44793040	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs578186140	chr5:44793072-44793073	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191588826	chr5:44793091-44793092	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549241970	chr5:44793132-44793133	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376466020	chr5:44793174-44793175	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184455374	chr5:44793190-44793191	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142110297	chr5:44793210-44793211	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542672075	chr5:44793221-44793222	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146682520	chr5:44793303-44793304	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140341396	chr5:44793319-44793320	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541236753	chr5:44793326-44793327	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145419522	chr5:44793400-44793401	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533231764	chr5:44793420-44793421	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543784975	chr5:44793438-44793439	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563262374	chr5:44793440-44793441	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138138797	chr5:44793457-44793458	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs35765064	chr5:44793503-44793504	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188994571	chr5:44793506-44793507	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371976848	chr5:44793526-44793527	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570442233	chr5:44793532-44793533	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565786188	chr5:44793545-44793546	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192844925	chr5:44793556-44793557	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200489537	chr5:44793558-44793559	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs60255886	chr5:44793590-44793591	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556328733	chr5:44793616-44793617	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs140874369	chr5:44793617-44793618	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs562980261	chr5:44793619-44793620	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185691867	chr5:44793635-44793636	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567277182	chr5:44793651-44793652	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375227505	chr5:44793678-44793679	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536268728	chr5:44793692-44793693	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs568153617	chr5:44793696-44793697	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190215661	chr5:44793710-44793711	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535695676	chr5:44793747-44793748	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181042091	chr5:44793775-44793776	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557926810	chr5:44793847-44793848	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554013988	chr5:44793870-44793871	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577799106	chr5:44793887-44793888	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs185289233	chr5:44793939-44793940	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs116393858	chr5:44793982-44793983	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs6451774	chr5:44793984-44793985	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs542632740	chr5:44793988-44793989	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs559115651	chr5:44794024-44794025	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528188080	chr5:44794076-44794077	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551228991	chr5:44794081-44794082	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34462833	chr5:44794100-44794101	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150200222	chr5:44794149-44794150	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188822491	chr5:44794151-44794152	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375879588	chr5:44794216-44794217	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44781000-44793200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:44785800-44795600	Weak transcription	Brain Angular Gyrus	brain
3	chr5:44789400-44793000	Weak transcription	Ovary	ovary
4	chr5:44790800-44795000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:44791400-44798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:44792000-44793000	Flanking Active TSS	Hela-S3	cervix
7	chr5:44792200-44794000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr5:44792200-44794400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:44792600-44793400	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:44792800-44794400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:44793000-44793200	Enhancers	Hela-S3	cervix
12	chr5:44793000-44794800	ZNF genes & repeats	Ovary	ovary
13	chr5:44793200-44793400	Weak transcription	Hela-S3	cervix
14	chr5:44793200-44793600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:44793200-44794400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:44793400-44793800	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr5:44793400-44794200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr5:44793400-44796800	ZNF genes & repeats	Hela-S3	cervix
19	chr5:44793600-44794000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:44793600-44794200	ZNF genes & repeats	Aorta	Aorta
21	chr5:44793600-44795600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:44793600-44796800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr5:44793800-44794000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr5:44793800-44794200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr5:44793800-44794200	Strong transcription	Brain Hippocampus Middle	brain
26	chr5:44793800-44794200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr5:44793800-44794200	ZNF genes & repeats	Fetal Lung	lung
28	chr5:44793800-44794400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr5:44794000-44794200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr5:44794200-44795200	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:44794200-44808600	Weak transcription	Aorta	Aorta
32	chr5:44794400-44796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:44795600-44796200	ZNF genes & repeats	Brain Angular Gyrus	brain
34	chr5:44795600-44798200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr5:44796800-44800800	Strong transcription	Hela-S3	cervix
36	chr5:44797400-44799200	Enhancers	Dnd41	blood

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