Variant report

Variant	esv3378846
Chromosome Location	chr15:41531789-41532276
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	chr15:41521136..41528560-chr15:41530721..41537224,13	K562	blood:

Variant related genes	Relation type
ENSG00000178997	chromatin interactions
ENSG00000187446	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 70 )

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	rs538452616	chr15:41531842-41531843	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs116334027	chr15:41531849-41531850	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs564272208	chr15:41531863-41531864	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533307832	chr15:41531864-41531865	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201477881	chr15:41531910-41531911	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184805585	chr15:41531975-41531976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs4445868	chr15:41531991-41531992	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs190728147	chr15:41532002-41532003	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545573793	chr15:41532009-41532010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs563874695	chr15:41532030-41532031	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548820823	chr15:41532043-41532044	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs4419033	chr15:41532044-41532045	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs534408664	chr15:41532046-41532047	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557968653	chr15:41532060-41532061	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577799537	chr15:41532061-41532062	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374419757	chr15:41532067-41532068	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148486558	chr15:41532136-41532137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575423099	chr15:41532181-41532182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181974701	chr15:41532216-41532217	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142602675	chr15:41532220-41532221	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186128948	chr15:41532237-41532238	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41524200-41533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:41524200-41533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41524200-41535800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:41524200-41536600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:41524200-41546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:41524200-41554800	Weak transcription	Fetal Thymus	thymus
7	chr15:41524200-41555800	Weak transcription	Aorta	Aorta
8	chr15:41524200-41563800	Weak transcription	Small Intestine	intestine
9	chr15:41524200-41575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:41524400-41532400	Weak transcription	Fetal Intestine Small	intestine
11	chr15:41524400-41533400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:41524400-41533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:41524400-41533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:41524400-41535800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:41524400-41536600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:41524400-41555800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:41524600-41533400	Weak transcription	Primary B cells from cord blood	blood
18	chr15:41524600-41533600	Weak transcription	Thymus	Thymus
19	chr15:41524600-41536400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:41524600-41536600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:41524800-41533000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:41524800-41533200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:41524800-41533400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:41524800-41533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:41524800-41535800	Weak transcription	Ovary	ovary
26	chr15:41524800-41546200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:41524800-41563800	Weak transcription	Esophagus	oesophagus
28	chr15:41525000-41533400	Weak transcription	Primary T cells from cord blood	blood
29	chr15:41525000-41533600	Weak transcription	Placenta	Placenta
30	chr15:41525000-41535400	Weak transcription	Fetal Stomach	stomach
31	chr15:41525000-41548400	Weak transcription	Fetal Lung	lung
32	chr15:41525200-41532600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:41525200-41533400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:41525200-41533400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:41525200-41533400	Weak transcription	Brain Anterior Caudate	brain
36	chr15:41525200-41533600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:41525200-41533600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:41525200-41548200	Weak transcription	Fetal Kidney	kidney
39	chr15:41525200-41554200	Weak transcription	Fetal Brain Female	brain
40	chr15:41525200-41556400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:41525200-41575400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr15:41525400-41532400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr15:41525400-41532400	Weak transcription	Fetal Intestine Large	intestine
44	chr15:41525400-41533200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:41525400-41533400	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:41525400-41533400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr15:41525400-41533600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:41525400-41533600	Weak transcription	Spleen	Spleen
49	chr15:41525400-41536400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:41525400-41538800	Weak transcription	Fetal Muscle Leg	muscle

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