Variant report

Variant	esv2572990
Chromosome Location	chr10:493054-495198
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	chr10:482519..484382-chr10:495131..497388,2	MCF-7	breast:
2	chr10:485797..489382-chr10:492522..494449,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233021	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs527483565	chr10:493059-493060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs137893310	chr10:493071-493072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142325602	chr10:493095-493096	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72504958	chr10:493130-493131	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200878743	chr10:493169-493170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199970582	chr10:493195-493196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533065757	chr10:493216-493217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78165450	chr10:493220-493221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372969542	chr10:493234-493235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549473521	chr10:493235-493236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78631444	chr10:493253-493254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111698004	chr10:493254-493255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569315890	chr10:493265-493266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12768860	chr10:493282-493283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12778537	chr10:493283-493284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528905544	chr10:493298-493299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369089646	chr10:493312-493313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549256945	chr10:493316-493317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372866969	chr10:493320-493321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566067639	chr10:493339-493340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12769029	chr10:493362-493363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36216067	chr10:493363-493364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534884733	chr10:493388-493389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551973685	chr10:493390-493391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571615205	chr10:493395-493396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12774330	chr10:493403-493404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12784953	chr10:493409-493410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12769209	chr10:493415-493416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557345186	chr10:493442-493443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142434447	chr10:493453-493454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574079456	chr10:493491-493492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536682468	chr10:493492-493493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61837249	chr10:493497-493498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572330818	chr10:493530-493531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112668554	chr10:493586-493587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556054086	chr10:493610-493611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376200153	chr10:493611-493612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370828764	chr10:493612-493613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12761114	chr10:493618-493619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564317988	chr10:493619-493620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577620770	chr10:493634-493635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112973986	chr10:493637-493638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543113698	chr10:493640-493641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71505875	chr10:493661-493662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71505876	chr10:493667-493668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12769635	chr10:493680-493681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12779389	chr10:493686-493687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563083746	chr10:493688-493689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78453316	chr10:493706-493707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58323574	chr10:493710-493711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:436600-521200	Weak transcription	HepG2	liver
2	chr10:443400-497000	Weak transcription	Psoas Muscle	Psoas
3	chr10:445800-498400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:456000-496600	Weak transcription	Fetal Heart	heart
5	chr10:466200-500000	Weak transcription	NHDF-Ad	bronchial
6	chr10:466400-497200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:467600-496600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:468800-496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:469600-496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:469800-496600	Weak transcription	Adipose Nuclei	Adipose
11	chr10:474800-495000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:476800-500000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:479800-503600	Weak transcription	NHLF	lung
14	chr10:482600-498400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:482600-498400	Weak transcription	Spleen	Spleen
16	chr10:483000-503600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:483400-499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:483600-498600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:483600-498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:483600-501000	Weak transcription	Esophagus	oesophagus
21	chr10:484600-496000	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:485400-494800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:485400-496400	Weak transcription	Ovary	ovary
24	chr10:485600-496200	Weak transcription	Aorta	Aorta
25	chr10:485600-498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:485800-496400	Weak transcription	Fetal Lung	lung
27	chr10:486000-498200	Weak transcription	Fetal Brain Female	brain
28	chr10:486000-500600	Weak transcription	NH-A	brain
29	chr10:486400-496000	Weak transcription	Brain Angular Gyrus	brain
30	chr10:486400-496200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:486400-496600	Weak transcription	Left Ventricle	heart
32	chr10:486400-504600	Weak transcription	Fetal Kidney	kidney
33	chr10:486600-498200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:486800-496200	Weak transcription	Osteobl	bone
35	chr10:486800-496400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:486800-496600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr10:486800-498800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:486800-505400	Weak transcription	HSMM	muscle
39	chr10:487000-496600	Weak transcription	Right Ventricle	heart
40	chr10:487000-496600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr10:487000-498400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr10:487400-496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:487400-496800	Weak transcription	Brain Germinal Matrix	brain
44	chr10:487400-498400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr10:487400-499000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:488200-496200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:488400-499400	Weak transcription	Fetal Stomach	stomach
48	chr10:489200-497600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr10:490200-496000	Weak transcription	Stomach Mucosa	stomach
50	chr10:490400-493200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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