Variant report

Variant	esv3413029
Chromosome Location	chr5:43377145-43379143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43312430..43314252-chr5:43377523..43379864,2	MCF-7	breast:
2	chr5:43109727..43112275-chr5:43377801..43380719,2	K562	blood:
3	chr5:43378870..43381035-chr5:43384992..43387422,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112972	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553175964	chr5:43377252-43377253	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533462783	chr5:43377253-43377254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545742643	chr5:43377279-43377280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562508090	chr5:43377487-43377488	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376332403	chr5:43377523-43377524	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369342871	chr5:43377529-43377530	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541924162	chr5:43377593-43377594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548333918	chr5:43377605-43377606	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs60879480	chr5:43377611-43377612	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs60137853	chr5:43377615-43377616	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79013941	chr5:43377619-43377620	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568243172	chr5:43377627-43377628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527448352	chr5:43377638-43377639	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547294807	chr5:43377767-43377768	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190136701	chr5:43377768-43377769	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7380111	chr5:43377806-43377807	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539392780	chr5:43377866-43377867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556519204	chr5:43378035-43378036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569744302	chr5:43378059-43378060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373277361	chr5:43378083-43378084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555409595	chr5:43378124-43378125	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572232336	chr5:43378125-43378126	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs28450849	chr5:43378148-43378149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs368766867	chr5:43378187-43378188	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541568153	chr5:43378224-43378225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182769832	chr5:43378231-43378232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575675575	chr5:43378268-43378269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188464229	chr5:43378274-43378275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371115258	chr5:43378294-43378295	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543806066	chr5:43378300-43378301	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147448115	chr5:43378328-43378329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554749293	chr5:43378353-43378354	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541862097	chr5:43378424-43378425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115826237	chr5:43378444-43378445	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201915326	chr5:43378452-43378453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527396097	chr5:43378470-43378471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547562277	chr5:43378477-43378478	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373162823	chr5:43378581-43378582	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138410605	chr5:43378612-43378613	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113605906	chr5:43378620-43378621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533233718	chr5:43378696-43378697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549699779	chr5:43378763-43378764	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569633454	chr5:43378786-43378787	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535431953	chr5:43378787-43378788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192199768	chr5:43378792-43378793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377278319	chr5:43378803-43378804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7710570	chr5:43378817-43378818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
48	rs374637361	chr5:43378825-43378826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532605301	chr5:43378830-43378831	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558325217	chr5:43378853-43378854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Esophageal adenocarcinoma	19417022	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
Prostate cancer	18632612	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
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43367200-43386400	Weak transcription	Pancreas	Pancrea
2	chr5:43368400-43381600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:43368600-43389800	Weak transcription	Stomach Mucosa	stomach
4	chr5:43368800-43396400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:43369000-43387000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:43369200-43386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:43370000-43396200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:43370400-43377200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:43371000-43379000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr5:43371800-43396800	Weak transcription	Small Intestine	intestine
11	chr5:43372200-43396800	Weak transcription	Gastric	stomach
12	chr5:43372800-43382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:43373200-43396400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:43374400-43381600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:43374600-43396400	Weak transcription	Adipose Nuclei	Adipose
16	chr5:43375000-43378200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:43375000-43387000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:43375000-43396800	Weak transcription	Spleen	Spleen
19	chr5:43375200-43379600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:43375200-43379600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:43375400-43387200	Weak transcription	Thymus	Thymus
22	chr5:43375800-43377800	Enhancers	Fetal Intestine Large	intestine
23	chr5:43376000-43377400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:43376200-43377400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:43376200-43378800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr5:43376200-43378800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:43376200-43382600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:43376200-43389800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:43376400-43377200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:43376400-43377400	Strong transcription	Primary T cells from cord blood	blood
31	chr5:43376400-43377400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:43376400-43377800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:43376400-43382200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:43376600-43377200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:43376600-43377200	Strong transcription	Colonic Mucosa	Colon
36	chr5:43376600-43384800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:43376600-43384800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:43376800-43377200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr5:43376800-43377200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr5:43376800-43381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:43376800-43386800	Weak transcription	HMEC	breast
42	chr5:43377000-43377600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:43377000-43381800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:43377000-43387000	Weak transcription	Lung	lung
45	chr5:43377200-43377600	Enhancers	Fetal Intestine Small	intestine
46	chr5:43377200-43379600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:43377200-43379600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr5:43377200-43379600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:43377200-43381200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:43377200-43381800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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