Variant report

Variant	esv3394879
Chromosome Location	chr15:77675925-77676489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77676422..77679960-chr15:77680439..77684994,6	K562	blood:
2	chr15:77671092..77674187-chr15:77674414..77677871,3	K562	blood:
3	chr15:77675482..77678764-chr15:77710197..77713556,3	K562	blood:

Variant related genes	Relation type
ENSG00000140382	chromatin interactions
ENSG00000173517	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538935528	chr15:77675949-77675950	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs553770443	chr15:77675953-77675954	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs527525276	chr15:77675968-77675969	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34690222	chr15:77675988-77675989	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs193029104	chr15:77676053-77676054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560817798	chr15:77676166-77676167	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs367844633	chr15:77676302-77676303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576131280	chr15:77676341-77676342	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142434834	chr15:77676444-77676445	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562748418	chr15:77676451-77676452	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs550546198	chr15:77676472-77676473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144691704	chr15:77676480-77676481	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77639800-77687000	Weak transcription	Primary B cells from cord blood	blood
2	chr15:77645800-77677000	Weak transcription	Right Ventricle	heart
3	chr15:77647000-77687200	Weak transcription	A549	lung
4	chr15:77648600-77685800	Weak transcription	Gastric	stomach
5	chr15:77656200-77676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:77656400-77683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:77662200-77677000	Weak transcription	NHDF-Ad	bronchial
8	chr15:77663000-77680200	Weak transcription	Osteobl	bone
9	chr15:77664600-77678200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:77665000-77676800	Weak transcription	Fetal Heart	heart
11	chr15:77669400-77683400	Weak transcription	Fetal Stomach	stomach
12	chr15:77670200-77676600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:77671800-77677200	Weak transcription	Primary T cells from cord blood	blood
14	chr15:77673200-77683400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:77673600-77676200	Weak transcription	Liver	Liver
16	chr15:77674000-77676000	Enhancers	Psoas Muscle	Psoas
17	chr15:77674200-77676800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:77674200-77677800	Weak transcription	Left Ventricle	heart
19	chr15:77674200-77680200	Weak transcription	Right Atrium	heart
20	chr15:77674200-77681800	Weak transcription	Aorta	Aorta
21	chr15:77674200-77686600	Weak transcription	Ovary	ovary
22	chr15:77674800-77677000	Weak transcription	Brain Substantia Nigra	brain
23	chr15:77674800-77677800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:77674800-77677800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:77674800-77684000	Weak transcription	Stomach Mucosa	stomach
26	chr15:77675000-77676600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:77675000-77678000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:77675000-77684400	Weak transcription	Spleen	Spleen
29	chr15:77675000-77709400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:77675600-77685200	Weak transcription	Lung	lung
31	chr15:77675800-77676600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:77675800-77677600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:77675800-77677800	Weak transcription	Brain Anterior Caudate	brain
34	chr15:77676000-77677000	Weak transcription	Psoas Muscle	Psoas
35	chr15:77676200-77677000	Enhancers	Liver	Liver
36	chr15:77676400-77677000	Enhancers	Adipose Nuclei	Adipose
37	chr15:77676400-77677800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:77676400-77678400	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links