Variant report

Variant	esv3372466
Chromosome Location	chr5:9370552-9374750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:9367193..9369881-chr5:9371572..9373664,2	MCF-7	breast:

Extended variants
information (count: 170 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs149270731	chr5:9370601-9370602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569069010	chr5:9370604-9370605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570094306	chr5:9370606-9370607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538787693	chr5:9370634-9370635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375059041	chr5:9370643-9370644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539586137	chr5:9370701-9370702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558789750	chr5:9370717-9370718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572344320	chr5:9370719-9370720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541353018	chr5:9370842-9370843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79075800	chr5:9370853-9370854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536681887	chr5:9370856-9370857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34678162	chr5:9370910-9370911	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3798004	chr5:9370945-9370946	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543090413	chr5:9371028-9371029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563355364	chr5:9371083-9371084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191371342	chr5:9371107-9371108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376685519	chr5:9371182-9371183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs137890287	chr5:9371252-9371253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555032035	chr5:9371356-9371357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527912891	chr5:9371363-9371364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547660916	chr5:9371398-9371399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs40654	chr5:9371411-9371412	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs367931833	chr5:9371415-9371416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142303846	chr5:9371422-9371423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146037871	chr5:9371448-9371449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570087114	chr5:9371455-9371456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183946790	chr5:9371465-9371466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148681102	chr5:9371549-9371550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552368336	chr5:9371603-9371604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565866480	chr5:9371608-9371609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567399339	chr5:9371613-9371614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534843021	chr5:9371635-9371636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189458350	chr5:9371654-9371655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181933404	chr5:9371664-9371665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186588428	chr5:9371667-9371668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556704123	chr5:9371775-9371776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142182931	chr5:9371778-9371779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553096595	chr5:9371795-9371796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150765175	chr5:9371797-9371798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574443847	chr5:9371799-9371800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139330577	chr5:9371818-9371819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190310968	chr5:9371843-9371844	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181186051	chr5:9371857-9371858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370877458	chr5:9371874-9371875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186430294	chr5:9371881-9371882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190233823	chr5:9371887-9371888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537998888	chr5:9371904-9371905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375103990	chr5:9371906-9371907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34498023	chr5:9371969-9371970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541866972	chr5:9372000-9372001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Lung adenocarcinoma	17982442	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9332800-9372400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:9357200-9377800	Weak transcription	Fetal Intestine Large	intestine
3	chr5:9358000-9389400	Weak transcription	Brain Substantia Nigra	brain
4	chr5:9358800-9372400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:9359200-9382800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:9359600-9372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:9359800-9372400	Weak transcription	Fetal Kidney	kidney
8	chr5:9363800-9373000	Weak transcription	Fetal Stomach	stomach
9	chr5:9364000-9371800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:9364000-9372400	Weak transcription	Aorta	Aorta
11	chr5:9364200-9372600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:9364200-9373400	Weak transcription	Osteobl	bone
13	chr5:9365400-9370600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:9366000-9372400	Weak transcription	Esophagus	oesophagus
15	chr5:9366000-9374600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:9366000-9374800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:9366200-9372400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:9366200-9372400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:9366400-9372400	Weak transcription	Fetal Heart	heart
20	chr5:9366400-9373800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:9369000-9372600	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:9369200-9372200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:9369400-9372400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:9369400-9378400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:9370000-9372400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:9370000-9372400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:9370000-9376000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:9370200-9370600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:9370200-9370600	Enhancers	Pancreas	Pancrea
30	chr5:9370200-9371000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:9370200-9371000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:9370200-9371000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:9370200-9371000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr5:9370200-9371000	Enhancers	HMEC	breast
35	chr5:9370200-9371000	Enhancers	NHDF-Ad	bronchial
36	chr5:9370200-9371000	Enhancers	NHEK	skin
37	chr5:9370200-9371000	Enhancers	NHLF	lung
38	chr5:9370200-9371200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:9370200-9380800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:9370600-9371000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:9370600-9372400	Weak transcription	Pancreas	Pancrea
42	chr5:9370800-9380600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:9371000-9372200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:9371000-9372600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:9371000-9372600	Weak transcription	NHLF	lung
46	chr5:9371000-9374000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:9371000-9378400	Weak transcription	Ovary	ovary
48	chr5:9371000-9381600	Weak transcription	NHDF-Ad	bronchial
49	chr5:9371200-9379200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:9371400-9373600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links