Variant report

Variant	esv3449084
Chromosome Location	chr15:31211263-31211816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531717784	chr15:31211311-31211312	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562138994	chr15:31211314-31211315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2955798	chr15:31211323-31211324	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184515227	chr15:31211326-31211327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150864828	chr15:31211335-31211336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376936720	chr15:31211413-31211414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188884267	chr15:31211437-31211438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546983021	chr15:31211447-31211448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549923324	chr15:31211450-31211451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112073167	chr15:31211548-31211549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139355618	chr15:31211565-31211566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369521257	chr15:31211576-31211577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34395788	chr15:31211582-31211583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398026731	chr15:31211603-31211604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552503615	chr15:31211620-31211621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373117828	chr15:31211638-31211639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150045922	chr15:31211691-31211692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35725021	chr15:31211714-31211715	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34917024	chr15:31211719-31211720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34418026	chr15:31211722-31211723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375317736	chr15:31211723-31211724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146572174	chr15:31211727-31211728	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537686789	chr15:31211741-31211742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557610469	chr15:31211753-31211754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571171946	chr15:31211765-31211766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533842659	chr15:31211766-31211767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553440891	chr15:31211773-31211774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19521722	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31196800-31213000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:31196800-31215000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:31197000-31213400	Weak transcription	Stomach Mucosa	stomach
4	chr15:31197000-31216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:31197200-31214000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:31197400-31215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:31198200-31224000	Strong transcription	Dnd41	blood
8	chr15:31198400-31213000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:31199800-31213400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:31200000-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:31200000-31213200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:31200200-31211800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:31200200-31213400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:31200200-31214400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:31200200-31224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:31200400-31213000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr15:31200400-31213400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:31200400-31213800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:31200400-31216200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:31200400-31221200	Strong transcription	Placenta	Placenta
21	chr15:31200400-31223200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:31200400-31242200	Strong transcription	Primary T cells from cord blood	blood
23	chr15:31200600-31211400	Strong transcription	Fetal Muscle Leg	muscle
24	chr15:31200600-31254800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr15:31200800-31213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr15:31200800-31213600	Strong transcription	Liver	Liver
27	chr15:31201200-31211400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr15:31201200-31224000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:31201200-31241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:31202000-31212800	Weak transcription	Psoas Muscle	Psoas
31	chr15:31202400-31213800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:31202400-31214000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:31202800-31213000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:31203000-31213200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:31203200-31212400	Weak transcription	HepG2	liver
36	chr15:31204200-31211400	Strong transcription	Adipose Nuclei	Adipose
37	chr15:31204200-31212800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:31204200-31213000	Strong transcription	Osteobl	bone
39	chr15:31204200-31224000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr15:31204400-31211400	Strong transcription	Fetal Intestine Large	intestine
41	chr15:31204400-31211400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:31204400-31213000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:31204400-31213200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:31204400-31214600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:31204400-31214800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr15:31204400-31223200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr15:31204400-31223200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:31204400-31223400	Strong transcription	Fetal Stomach	stomach
49	chr15:31204400-31223600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:31204400-31224000	Strong transcription	Duodenum Mucosa	Duodenum

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