Variant report

Variant	nsv528233
Chromosome Location	chr15:73284181-73287152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73281450..73284379-chr15:73286906..73289508,2	MCF-7	breast:
2	chr15:73283925..73285701-chr15:73287876..73289544,2	K562	blood:
3	chr15:73280099..73282772-chr15:73284444..73286998,2	K562	blood:
4	chr15:73281450..73284379-chr15:73286906..73289508,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9920504	chr15:73284181-73284182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567415325	chr15:73284194-73284195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188767546	chr15:73284213-73284214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546341551	chr15:73284319-73284320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564290011	chr15:73284328-73284329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371989553	chr15:73284367-73284368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573199437	chr15:73284464-73284465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs67262948	chr15:73284503-73284504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543507819	chr15:73284510-73284511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61298463	chr15:73284517-73284518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547530533	chr15:73284518-73284519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9920548	chr15:73284535-73284536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182039172	chr15:73284558-73284559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549520198	chr15:73284611-73284612	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs201703747	chr15:73284615-73284616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529438567	chr15:73284626-73284627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550798269	chr15:73284695-73284696	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187155058	chr15:73284712-73284713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111856824	chr15:73284748-73284749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552256051	chr15:73284797-73284798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs570302702	chr15:73284834-73284835	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534658470	chr15:73284871-73284872	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551387265	chr15:73284910-73284911	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112054804	chr15:73284931-73284932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs11858307	chr15:73284960-73284961	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552490504	chr15:73285002-73285003	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs142620724	chr15:73285049-73285050	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191165225	chr15:73285119-73285120	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112735759	chr15:73285137-73285138	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs8040888	chr15:73285240-73285241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180789623	chr15:73285281-73285282	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561919616	chr15:73285346-73285347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs533904749	chr15:73285367-73285368	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs558235299	chr15:73285389-73285390	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs34846029	chr15:73285393-73285394	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs200346795	chr15:73285421-73285422	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs397853642	chr15:73285428-73285429	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540664434	chr15:73285445-73285446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145999800	chr15:73285517-73285518	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556785694	chr15:73285613-73285614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79964340	chr15:73285620-73285621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4494506	chr15:73285630-73285631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562699558	chr15:73285641-73285642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74896617	chr15:73285642-73285643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185975111	chr15:73285661-73285662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545102292	chr15:73285683-73285684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574613364	chr15:73285710-73285711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191218170	chr15:73285732-73285733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139881756	chr15:73285790-73285791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546602242	chr15:73285795-73285796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	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
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73278000-73286200	Weak transcription	Fetal Brain Male	brain
2	chr15:73282800-73284200	Enhancers	NHEK	skin
3	chr15:73282800-73284400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:73282800-73285600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr15:73283200-73285000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:73283400-73284200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:73283400-73285800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:73283600-73286000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:73283800-73285200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr15:73283800-73285800	Enhancers	Osteobl	bone
11	chr15:73284000-73284200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:73284000-73284200	Enhancers	Rectal Smooth Muscle	rectum
13	chr15:73284000-73284400	Enhancers	NH-A	brain
14	chr15:73284000-73284600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:73284000-73284800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:73284000-73285200	Enhancers	Colon Smooth Muscle	Colon
17	chr15:73284000-73285200	Enhancers	NHLF	lung
18	chr15:73284000-73287200	Enhancers	Ovary	ovary
19	chr15:73284000-73289800	Enhancers	Fetal Lung	lung
20	chr15:73284000-73294800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:73284200-73284800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr15:73284200-73285000	Enhancers	Lung	lung
23	chr15:73284200-73285800	Enhancers	Psoas Muscle	Psoas
24	chr15:73284200-73286800	Weak transcription	NHEK	skin
25	chr15:73284200-73287000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:73284400-73290200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:73284600-73285000	Enhancers	NH-A	brain
28	chr15:73284600-73285600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:73284600-73286800	Enhancers	Adipose Nuclei	Adipose
30	chr15:73284600-73290400	Enhancers	Fetal Stomach	stomach
31	chr15:73284800-73285000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr15:73284800-73285000	Enhancers	Rectal Smooth Muscle	rectum
33	chr15:73284800-73285200	Enhancers	Brain Anterior Caudate	brain
34	chr15:73284800-73285200	Enhancers	Brain Hippocampus Middle	brain
35	chr15:73284800-73285200	Enhancers	Fetal Kidney	kidney
36	chr15:73284800-73285400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:73284800-73285600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:73284800-73285600	Enhancers	Colonic Mucosa	Colon
39	chr15:73284800-73285800	Enhancers	Fetal Muscle Trunk	muscle
40	chr15:73284800-73285800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:73284800-73286800	Enhancers	Aorta	Aorta
42	chr15:73284800-73287000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr15:73284800-73288800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr15:73285000-73285200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:73285000-73285200	Enhancers	Fetal Intestine Small	intestine
46	chr15:73285000-73285800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr15:73285000-73286200	Enhancers	Stomach Smooth Muscle	stomach
48	chr15:73285000-73289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:73285000-73292400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:73285200-73285400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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