Variant report

Variant	esv1216894
Chromosome Location	chr10:43116623-43116625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 52 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398013290	chr10:43116624-43116625	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43089600-43123600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr10:43089800-43126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:43089800-43133000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:43089800-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:43089800-43133000	Weak transcription	Right Ventricle	heart
6	chr10:43090000-43119200	Weak transcription	Brain Anterior Caudate	brain
7	chr10:43090000-43119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:43090400-43118600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:43090800-43133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr10:43091000-43123800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:43091200-43123600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:43091200-43126000	Weak transcription	Small Intestine	intestine
13	chr10:43091200-43132800	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:43091400-43119600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:43091400-43132400	Weak transcription	HMEC	breast
16	chr10:43091400-43132800	Weak transcription	Colonic Mucosa	Colon
17	chr10:43094000-43119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr10:43094000-43119400	Weak transcription	Spleen	Spleen
19	chr10:43094200-43119400	Weak transcription	Right Atrium	heart
20	chr10:43094400-43133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:43095400-43126000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:43095600-43125800	Weak transcription	HUVEC	blood vessel
23	chr10:43096800-43119400	Weak transcription	NHEK	skin
24	chr10:43097600-43118400	Weak transcription	Esophagus	oesophagus
25	chr10:43100400-43118400	Weak transcription	Pancreas	Pancrea
26	chr10:43101000-43133000	Weak transcription	NH-A	brain
27	chr10:43102000-43119400	Weak transcription	Gastric	stomach
28	chr10:43102000-43126200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:43102000-43132000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:43105800-43119400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr10:43106200-43132600	Weak transcription	Fetal Heart	heart
32	chr10:43107000-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:43107400-43129000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr10:43107800-43119400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr10:43108000-43133200	Weak transcription	Psoas Muscle	Psoas
36	chr10:43108800-43119400	Weak transcription	Left Ventricle	heart
37	chr10:43109000-43133200	Weak transcription	Aorta	Aorta
38	chr10:43109200-43117200	Weak transcription	Adipose Nuclei	Adipose
39	chr10:43109400-43119000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr10:43109600-43118000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr10:43109600-43118600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr10:43109600-43118800	Weak transcription	Brain Germinal Matrix	brain
43	chr10:43109600-43119200	Weak transcription	Fetal Kidney	kidney
44	chr10:43109600-43119400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr10:43109600-43119400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr10:43109600-43119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:43109600-43119400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:43109600-43119400	Weak transcription	Fetal Stomach	stomach
49	chr10:43109800-43117200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr10:43109800-43117800	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links