Variant report

Variant	esv1792273
Chromosome Location	chr5:57214817-57320343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
2	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
3	chr5:57290033..57292434-chr5:57751650..57753353,2	MCF-7	breast:
4	chr5:57279398..57281900-chr5:57285710..57288017,2	K562	blood:
5	chr5:57233939..57234587-chr5:57755933..57756899,2	MCF-7	breast:
6	chr5:57279398..57281900-chr5:57285710..57288017,2	K562	blood:
7	chr5:57278201..57280786-chr5:57291082..57293497,2	K562	blood:
8	chr5:57250868..57253108-chr5:57753265..57756845,3	MCF-7	breast:
9	chr5:57278201..57280786-chr5:57291082..57293497,2	K562	blood:
10	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
11	chr5:57312144..57315034-chr5:57754413..57757407,2	MCF-7	breast:
12	chr5:57232336..57234961-chr5:57754268..57756704,2	MCF-7	breast:
13	chr17:37617529..37618214-chr5:57312142..57313016,2	Hela-S3	cervix:
14	chr5:57273502..57275672-chr5:57755713..57757571,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167258	chromatin interactions
ENSG00000145632	chromatin interactions

Extended variants
information (count: 2944 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2944 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531966263	chr5:57215017-57215018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550375184	chr5:57215071-57215072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76598838	chr5:57215073-57215074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532819196	chr5:57215110-57215111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547819954	chr5:57215131-57215132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375549710	chr5:57215225-57215226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531776019	chr5:57215232-57215233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150189562	chr5:57215245-57215246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189604193	chr5:57215262-57215263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181856980	chr5:57215263-57215264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537280777	chr5:57215313-57215314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558303975	chr5:57215341-57215342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576742846	chr5:57215347-57215348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186507711	chr5:57215378-57215379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368310979	chr5:57215383-57215384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552552553	chr5:57215389-57215390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3989425	chr5:57215420-57215421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4541617	chr5:57215428-57215429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs567551551	chr5:57215431-57215432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377280791	chr5:57215455-57215456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541444383	chr5:57215476-57215477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368985098	chr5:57215484-57215485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563425036	chr5:57215508-57215509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530492766	chr5:57215511-57215512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4637506	chr5:57215537-57215538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565435466	chr5:57215555-57215556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190505651	chr5:57215583-57215584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553297185	chr5:57215589-57215590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532856116	chr5:57215608-57215609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548153178	chr5:57215626-57215627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559784073	chr5:57215640-57215641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371256580	chr5:57215679-57215680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183071821	chr5:57215710-57215711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10066649	chr5:57215719-57215720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186301791	chr5:57215729-57215730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538264094	chr5:57215768-57215769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368729407	chr5:57215778-57215779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369325391	chr5:57215796-57215797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537116434	chr5:57215849-57215850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551963764	chr5:57215860-57215861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138907645	chr5:57215879-57215880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534506594	chr5:57215930-57215931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553273956	chr5:57216014-57216015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142039147	chr5:57216054-57216055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62359093	chr5:57216067-57216068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556648901	chr5:57216083-57216084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191166031	chr5:57216084-57216085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183427235	chr5:57216095-57216096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575259316	chr5:57216113-57216114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187546591	chr5:57216165-57216166	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17634833	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57215000-57216200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:57225000-57228200	Enhancers	Brain Germinal Matrix	brain
3	chr5:57225000-57228800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:57225400-57226000	Enhancers	Fetal Stomach	stomach
5	chr5:57225600-57226000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:57226600-57227600	Enhancers	Fetal Brain Male	brain
7	chr5:57228400-57229200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:57228400-57229400	Enhancers	HMEC	breast
9	chr5:57228600-57229000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:57228600-57229000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:57228600-57229200	Enhancers	NHEK	skin
12	chr5:57230400-57231000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:57230600-57231000	Enhancers	Primary hematopoietic stem cells	blood
14	chr5:57231800-57232200	Enhancers	K562	blood
15	chr5:57231800-57233800	Enhancers	NHLF	lung
16	chr5:57232000-57233800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:57232800-57233200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:57232800-57233800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:57233000-57233400	Enhancers	NHDF-Ad	bronchial
20	chr5:57233000-57233600	Enhancers	Fetal Lung	lung
21	chr5:57233000-57233800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:57233000-57233800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:57233200-57233400	Enhancers	HSMM	muscle
24	chr5:57233600-57235200	Weak transcription	HSMM	muscle
25	chr5:57234200-57235200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:57235200-57236400	Enhancers	HSMM	muscle
27	chr5:57242600-57243200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:57242600-57244000	Enhancers	Fetal Lung	lung
29	chr5:57243200-57243400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr5:57243400-57247200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:57246200-57246800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:57246400-57246800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:57246400-57246800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:57246400-57246800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:57246400-57247000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:57246400-57247000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:57246400-57247000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:57246400-57247000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:57246600-57247000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:57246600-57247000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:57246600-57247000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:57246600-57247000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:57246600-57247000	Enhancers	Spleen	Spleen
44	chr5:57246600-57247200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:57246600-57248400	Enhancers	A549	lung
46	chr5:57246800-57247000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:57247000-57248000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:57247000-57249200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:57247000-57251400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr5:57247200-57248800	Enhancers	Pancreatic Islets	Pancreatic Islet

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