Variant report

Variant	esv3343952
Chromosome Location	chr10:20112229-20112560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192051688	chr10:20112262-20112263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560086860	chr10:20112327-20112328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533712043	chr10:20112328-20112329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61841505	chr10:20112345-20112346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs202185750	chr10:20112369-20112370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570036360	chr10:20112398-20112399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12779736	chr10:20112427-20112428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567749884	chr10:20112435-20112436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184453085	chr10:20112439-20112440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552789370	chr10:20112440-20112441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571192041	chr10:20112462-20112463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538573786	chr10:20112527-20112528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117701257	chr10:20112536-20112537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575097368	chr10:20112543-20112544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536253312	chr10:20112558-20112559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:20107000-20117800	Weak transcription	Spleen	Spleen
2	chr10:20107600-20115800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:20107600-20117000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:20107600-20117200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:20107600-20117600	Weak transcription	Right Ventricle	heart
6	chr10:20107600-20117800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:20107600-20121600	Weak transcription	Left Ventricle	heart
8	chr10:20107800-20112400	Weak transcription	Fetal Intestine Large	intestine
9	chr10:20108000-20112600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr10:20108000-20113400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:20108200-20114600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:20108200-20115600	Weak transcription	HMEC	breast
13	chr10:20108200-20117000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:20108400-20113400	Weak transcription	Fetal Stomach	stomach
15	chr10:20108400-20115800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:20108600-20113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:20108600-20117000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr10:20108600-20117000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:20108600-20117400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:20108600-20117600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:20108800-20112800	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:20108800-20113000	Weak transcription	Adipose Nuclei	Adipose
23	chr10:20108800-20113200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:20108800-20113200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:20108800-20113400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:20108800-20113400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:20108800-20115600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:20108800-20117800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr10:20109000-20113000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:20109000-20113000	Weak transcription	Fetal Kidney	kidney
31	chr10:20109000-20113200	Weak transcription	Brain Anterior Caudate	brain
32	chr10:20109000-20113200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:20109000-20115800	Weak transcription	Brain Angular Gyrus	brain
34	chr10:20109000-20117000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:20109000-20117600	Weak transcription	HSMMtube	muscle
36	chr10:20109200-20112600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:20109200-20112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:20109200-20112800	Weak transcription	Brain Substantia Nigra	brain
39	chr10:20109200-20113000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr10:20109200-20115000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr10:20109400-20112800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:20110200-20113800	Weak transcription	Fetal Muscle Leg	muscle
43	chr10:20110400-20112600	Weak transcription	Brain Hippocampus Middle	brain
44	chr10:20110400-20113000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr10:20110400-20151400	Weak transcription	Fetal Intestine Small	intestine
46	chr10:20110600-20112600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr10:20110600-20112800	Weak transcription	Fetal Lung	lung
48	chr10:20112200-20112800	Enhancers	Aorta	Aorta
49	chr10:20112200-20113200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr10:20112200-20119800	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links