Variant report

Variant	esv11837
Chromosome Location	chr15:77589085-77589818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77587677..77589850-chr15:77710277..77712592,2	K562	blood:
2	chr15:77585431..77587225-chr15:77589534..77592219,2	K562	blood:
3	chr15:77587941..77589755-chr15:77592690..77595045,2	K562	blood:
4	chr15:77587934..77589441-chr15:77592568..77594190,2	K562	blood:

Variant related genes	Relation type
ENSG00000173517	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542111219	chr15:77589114-77589115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117137307	chr15:77589121-77589122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115954900	chr15:77589209-77589210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529150100	chr15:77589226-77589227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552240043	chr15:77589243-77589244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564150309	chr15:77589251-77589252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138493389	chr15:77589327-77589328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141423221	chr15:77589349-77589350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75733620	chr15:77589368-77589369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144626703	chr15:77589385-77589386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138506827	chr15:77589438-77589439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182593922	chr15:77589502-77589503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7182221	chr15:77589535-77589536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs186872439	chr15:77589581-77589582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536036987	chr15:77589588-77589589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571324608	chr15:77589687-77589688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576890955	chr15:77589688-77589689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574630863	chr15:77589720-77589721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191301854	chr15:77589751-77589752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79761293	chr15:77589772-77589773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552704219	chr15:77589801-77589802	Weak transcription Enhancers	Chromatin interactive region	1 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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77541800-77589800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:77544600-77589200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr15:77562200-77589600	Weak transcription	Primary T cells from cord blood	blood
4	chr15:77573600-77589400	Weak transcription	Fetal Stomach	stomach
5	chr15:77577200-77619400	Weak transcription	HSMM	muscle
6	chr15:77577800-77590000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:77580800-77592400	Weak transcription	NHDF-Ad	bronchial
8	chr15:77582400-77591200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:77583000-77603600	Weak transcription	Left Ventricle	heart
10	chr15:77586600-77589600	Weak transcription	Psoas Muscle	Psoas
11	chr15:77586600-77591200	Weak transcription	Pancreas	Pancrea
12	chr15:77586800-77601800	Weak transcription	Stomach Mucosa	stomach
13	chr15:77588000-77589200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:77588000-77589400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:77588200-77589200	Weak transcription	Fetal Heart	heart
16	chr15:77588600-77603400	Weak transcription	Osteobl	bone
17	chr15:77589200-77589600	Enhancers	Adipose Nuclei	Adipose
18	chr15:77589200-77589800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:77589200-77589800	Enhancers	Fetal Muscle Leg	muscle
20	chr15:77589200-77589800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr15:77589200-77590000	Enhancers	Fetal Heart	heart
22	chr15:77589200-77590000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr15:77589400-77589600	Enhancers	Fetal Stomach	stomach
24	chr15:77589600-77590000	Enhancers	Psoas Muscle	Psoas

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