Variant report

Variant	esv3410912
Chromosome Location	chr10:719430-719980
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	chr10:717115..720273-chr10:724564..727281,3	MCF-7	breast:
2	chr10:719611..721837-chr10:748749..751307,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547451895	chr10:719446-719447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11253317	chr10:719492-719493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10795295	chr10:719502-719503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549952297	chr10:719539-719540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569656359	chr10:719553-719554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537706547	chr10:719559-719560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4881504	chr10:719562-719563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555277709	chr10:719574-719575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575243711	chr10:719619-719620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568235234	chr10:719630-719631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147222127	chr10:719642-719643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80078814	chr10:719644-719645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534531145	chr10:719666-719667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71376846	chr10:719735-719736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545781713	chr10:719751-719752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555927308	chr10:719752-719753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374221979	chr10:719770-719771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4880737	chr10:719803-719804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531872295	chr10:719824-719825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140578447	chr10:719839-719840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541253030	chr10:719876-719877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564235735	chr10:719915-719916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551589079	chr10:719918-719919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550256371	chr10:719968-719969	Weak transcription Enhancers	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:698400-723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:710200-723800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:712000-723600	Weak transcription	Aorta	Aorta
4	chr10:712000-723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr10:712200-725600	Weak transcription	Fetal Intestine Small	intestine
6	chr10:712800-726000	Weak transcription	Fetal Stomach	stomach
7	chr10:713400-728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:716200-725600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:716200-725800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:716400-719800	Weak transcription	Fetal Brain Female	brain
11	chr10:716400-723000	Weak transcription	Right Ventricle	heart
12	chr10:716400-723800	Weak transcription	Esophagus	oesophagus
13	chr10:716400-723800	Weak transcription	Gastric	stomach
14	chr10:716400-723800	Weak transcription	Pancreas	Pancrea
15	chr10:716400-723800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr10:716400-725600	Weak transcription	Fetal Heart	heart
17	chr10:716400-726400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:716400-729200	Weak transcription	Fetal Lung	lung
19	chr10:716400-732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:716400-734200	Weak transcription	Fetal Kidney	kidney
21	chr10:716600-719600	Enhancers	Fetal Brain Male	brain
22	chr10:718000-719800	Enhancers	Brain Cingulate Gyrus	brain
23	chr10:718000-719800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr10:718000-720000	Enhancers	Brain Anterior Caudate	brain
25	chr10:718000-720000	Enhancers	Brain Substantia Nigra	brain
26	chr10:718200-719800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:718400-719800	Enhancers	Brain Hippocampus Middle	brain
28	chr10:718400-720200	Enhancers	Colon Smooth Muscle	Colon
29	chr10:718400-723600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:718400-723800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:718400-725600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:718600-719600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:718800-720000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:718800-720000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:719000-719800	Enhancers	Adipose Nuclei	Adipose
36	chr10:719000-719800	Enhancers	Left Ventricle	heart
37	chr10:719000-720000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr10:719200-719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:719200-719600	Weak transcription	Brain Angular Gyrus	brain
40	chr10:719200-719600	Weak transcription	Brain Germinal Matrix	brain
41	chr10:719200-720600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:719400-719800	Enhancers	Ovary	ovary
43	chr10:719400-719800	Enhancers	Psoas Muscle	Psoas
44	chr10:719400-719800	Enhancers	Right Atrium	heart
45	chr10:719400-720000	Enhancers	Lung	lung
46	chr10:719400-720000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr10:719600-719800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:719600-719800	Enhancers	Brain Angular Gyrus	brain
49	chr10:719600-719800	Enhancers	Brain Germinal Matrix	brain
50	chr10:719600-725600	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links