Variant report

Variant	esv3395622
Chromosome Location	chr15:83676898-83677335
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	chr15:83673940..83677248-chr15:83678210..83681021,4	MCF-7	breast:
2	chr15:83672818..83677219-chr15:83678356..83680913,3	K562	blood:

Variant related genes	Relation type
ENSG00000169609	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148109952	chr15:83676909-83676910	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539758384	chr15:83676930-83676931	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141855890	chr15:83676938-83676939	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113081534	chr15:83676943-83676944	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572505107	chr15:83676971-83676972	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535042709	chr15:83676979-83676980	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150618590	chr15:83676996-83676997	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34426565	chr15:83677006-83677007	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566977987	chr15:83677013-83677014	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544431438	chr15:83677015-83677016	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183920104	chr15:83677023-83677024	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577740041	chr15:83677028-83677029	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540159629	chr15:83677031-83677032	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112682570	chr15:83677036-83677037	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113226431	chr15:83677041-83677042	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113256459	chr15:83677088-83677089	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528537711	chr15:83677099-83677100	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142246703	chr15:83677144-83677145	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562193538	chr15:83677212-83677213	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530892490	chr15:83677215-83677216	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560439005	chr15:83677227-83677228	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190100140	chr15:83677250-83677251	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534261421	chr15:83677270-83677271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373204607	chr15:83677271-83677272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74479393	chr15:83677283-83677284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187251387	chr15:83677291-83677292	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201017968	chr15:83677293-83677294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116091515	chr15:83677318-83677319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83655800-83679200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:83656200-83677800	Weak transcription	Fetal Brain Male	brain
3	chr15:83656200-83679000	Weak transcription	Right Ventricle	heart
4	chr15:83656400-83679200	Weak transcription	Fetal Heart	heart
5	chr15:83658000-83679000	Weak transcription	Gastric	stomach
6	chr15:83665600-83679400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:83669200-83677200	Weak transcription	Aorta	Aorta
8	chr15:83669200-83678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:83669200-83678800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:83669200-83679000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:83669400-83677200	Weak transcription	Fetal Lung	lung
12	chr15:83669400-83678000	Weak transcription	Psoas Muscle	Psoas
13	chr15:83669400-83678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:83669400-83678800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:83669400-83678800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:83669400-83679000	Weak transcription	Right Atrium	heart
17	chr15:83669600-83679000	Weak transcription	Pancreas	Pancrea
18	chr15:83670000-83678400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr15:83671400-83678400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:83672200-83678000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:83672200-83678600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:83672200-83678800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:83672400-83678600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:83672400-83678600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr15:83672400-83679000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:83672400-83679000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:83672800-83678400	Strong transcription	Fetal Stomach	stomach
28	chr15:83673000-83678200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:83673000-83678200	Strong transcription	Adipose Nuclei	Adipose
30	chr15:83673000-83678600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:83673000-83678600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:83673000-83678800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:83673000-83678800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:83673000-83678800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:83673000-83679000	Strong transcription	Fetal Muscle Leg	muscle
36	chr15:83673000-83679000	Strong transcription	Placenta	Placenta
37	chr15:83673200-83679000	Strong transcription	Osteobl	bone
38	chr15:83673400-83677600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:83673400-83678600	Strong transcription	Liver	Liver
40	chr15:83673400-83678800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:83673400-83679000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr15:83673400-83679000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:83673600-83677200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:83673600-83678000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr15:83673600-83678200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr15:83673600-83678200	Strong transcription	A549	lung
47	chr15:83673600-83678400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr15:83673600-83678400	Strong transcription	Primary T cells from cord blood	blood
49	chr15:83673600-83678600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:83673600-83678600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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