Variant report

Variant	esv3425160
Chromosome Location	chr15:34488516-34488884
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	chr15:34487048..34490897-chr15:34492238..34496487,4	K562	blood:
2	chr15:34488843..34491834-chr15:34501195..34503320,2	K562	blood:

Variant related genes	Relation type
ENSG00000134152	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 67 )

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	rs185954714	chr15:34488543-34488544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190370593	chr15:34488544-34488545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11638656	chr15:34488549-34488550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532415801	chr15:34488558-34488559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548645965	chr15:34488567-34488568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567839577	chr15:34488581-34488582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182555171	chr15:34488608-34488609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115094283	chr15:34488637-34488638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35678773	chr15:34488649-34488650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111533546	chr15:34488653-34488654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529676081	chr15:34488654-34488655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185276738	chr15:34488656-34488657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191168118	chr15:34488706-34488707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7174014	chr15:34488738-34488739	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527387238	chr15:34488743-34488744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376284445	chr15:34488750-34488751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552310649	chr15:34488775-34488776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116715394	chr15:34488790-34488791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147910841	chr15:34488793-34488794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183010770	chr15:34488795-34488796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568703074	chr15:34488813-34488814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535841822	chr15:34488814-34488815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554213652	chr15:34488830-34488831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572534839	chr15:34488846-34488847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Angelman syndrome	16183798	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
Melanoma	18172304	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
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34454200-34497800	Weak transcription	Osteobl	bone
2	chr15:34454600-34501200	Weak transcription	Colonic Mucosa	Colon
3	chr15:34454800-34501000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:34464600-34500400	Weak transcription	Hela-S3	cervix
5	chr15:34466400-34500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:34467000-34500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr15:34467200-34491400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:34467200-34500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:34468000-34496400	Weak transcription	Fetal Lung	lung
10	chr15:34468000-34497800	Weak transcription	NHEK	skin
11	chr15:34468200-34498000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:34471000-34501000	Weak transcription	Aorta	Aorta
13	chr15:34471600-34500400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:34473400-34500400	Weak transcription	HSMMtube	muscle
15	chr15:34475000-34500400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:34475400-34491600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:34475600-34491800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:34475600-34493600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr15:34475600-34495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:34475600-34499800	Weak transcription	Ovary	ovary
21	chr15:34475600-34500000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:34475600-34500400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:34475600-34500400	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:34475600-34500400	Weak transcription	HUVEC	blood vessel
25	chr15:34476000-34491600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:34476000-34491800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:34476200-34499600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:34476200-34500000	Weak transcription	Fetal Brain Female	brain
29	chr15:34476400-34500800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:34476800-34499800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr15:34477000-34499800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr15:34477200-34500000	Weak transcription	Liver	Liver
33	chr15:34477600-34501000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:34477600-34501200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:34478000-34491200	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:34478000-34500200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:34478200-34492000	Weak transcription	Primary B cells from cord blood	blood
38	chr15:34478400-34489000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:34478600-34491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:34478600-34496400	Weak transcription	HSMM	muscle
41	chr15:34478800-34491600	Weak transcription	Primary T cells from cord blood	blood
42	chr15:34478800-34500000	Weak transcription	Fetal Intestine Large	intestine
43	chr15:34478800-34500400	Weak transcription	Thymus	Thymus
44	chr15:34478800-34500800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:34479000-34498200	Weak transcription	NH-A	brain
46	chr15:34479200-34500000	Weak transcription	Esophagus	oesophagus
47	chr15:34479200-34500800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:34479200-34501000	Weak transcription	Gastric	stomach
49	chr15:34479400-34491200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:34479400-34491400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links