Variant report

Variant	esv3353891
Chromosome Location	chr15:41581060-41583108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41579631..41582972-chr15:41599254..41603170,4	K562	blood:
2	chr15:41581933..41584889-chr15:41587370..41590303,3	K562	blood:
3	chr15:41575888..41578316-chr15:41582979..41585104,2	MCF-7	breast:
4	chr15:41581502..41583044-chr15:41584915..41586594,2	K562	blood:
5	chr15:41581131..41583433-chr15:41618949..41620567,2	K562	blood:
6	chr15:41578529..41581280-chr15:41851350..41854253,2	K562	blood:

Variant related genes	Relation type
ENSG00000247556	chromatin interactions
ENSG00000092445	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556890163	chr15:41581068-41581069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573823196	chr15:41581078-41581079	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148726448	chr15:41581114-41581115	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142452640	chr15:41581136-41581137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573160884	chr15:41581150-41581151	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545039555	chr15:41581151-41581152	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150917671	chr15:41581184-41581185	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139335380	chr15:41581221-41581222	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544334538	chr15:41581237-41581238	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560817608	chr15:41581238-41581239	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144409166	chr15:41581263-41581264	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546859636	chr15:41581281-41581282	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146443599	chr15:41581295-41581296	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532637627	chr15:41581310-41581311	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530218455	chr15:41581331-41581332	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191373475	chr15:41581355-41581356	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139876817	chr15:41581395-41581396	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201864529	chr15:41581419-41581420	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559803189	chr15:41581427-41581428	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372060750	chr15:41581430-41581431	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143299324	chr15:41581451-41581452	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372726093	chr15:41581473-41581474	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548743508	chr15:41581487-41581488	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113419503	chr15:41581570-41581571	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7176505	chr15:41581624-41581625	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs536481472	chr15:41581633-41581634	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189675186	chr15:41581680-41581681	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566795625	chr15:41581718-41581719	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192822663	chr15:41581719-41581720	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73404969	chr15:41581729-41581730	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76883528	chr15:41581738-41581739	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531159457	chr15:41581785-41581786	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11633487	chr15:41581808-41581809	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563949577	chr15:41581852-41581853	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552876979	chr15:41581868-41581869	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571141506	chr15:41581869-41581870	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58126667	chr15:41581870-41581871	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71104786	chr15:41581871-41581872	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185208752	chr15:41581923-41581924	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534282628	chr15:41581965-41581966	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552936846	chr15:41581982-41581983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543839963	chr15:41581995-41581996	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554681124	chr15:41582061-41582062	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151010502	chr15:41582274-41582275	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568004464	chr15:41582302-41582303	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540841345	chr15:41582305-41582306	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560264538	chr15:41582315-41582316	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532677669	chr15:41582327-41582328	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142135504	chr15:41582408-41582409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562841632	chr15:41582412-41582413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41577000-41582400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:41577400-41584600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:41577400-41610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:41577600-41581200	Genic enhancers	Primary B cells from cord blood	blood
5	chr15:41577600-41581200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr15:41577600-41581200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr15:41577600-41606400	Weak transcription	Stomach Mucosa	stomach
8	chr15:41577800-41581200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:41577800-41581200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
10	chr15:41577800-41581600	Strong transcription	Placenta	Placenta
11	chr15:41577800-41581800	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr15:41577800-41583600	Weak transcription	Aorta	Aorta
13	chr15:41577800-41583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:41577800-41589000	Weak transcription	Esophagus	oesophagus
15	chr15:41577800-41591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:41578000-41581200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:41578000-41581200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr15:41578000-41581200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr15:41578000-41581200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:41578000-41581200	Genic enhancers	Adipose Nuclei	Adipose
21	chr15:41578000-41581200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr15:41578000-41581400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:41578000-41581600	Strong transcription	Fetal Kidney	kidney
24	chr15:41578000-41581600	Strong transcription	Fetal Lung	lung
25	chr15:41578000-41581600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr15:41578000-41581600	Strong transcription	NH-A	brain
27	chr15:41578000-41582400	Genic enhancers	Liver	Liver
28	chr15:41578000-41584000	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr15:41578000-41584000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:41578000-41584600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr15:41578000-41584600	Strong transcription	Fetal Intestine Large	intestine
32	chr15:41578000-41588400	Weak transcription	Right Atrium	heart
33	chr15:41578000-41591600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:41578200-41581200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr15:41578200-41581200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:41578200-41581200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr15:41578200-41581400	Strong transcription	HMEC	breast
38	chr15:41578200-41581600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:41578200-41581600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:41578200-41581800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:41578200-41581800	Strong transcription	NHEK	skin
42	chr15:41578200-41582200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:41578200-41591800	Strong transcription	Fetal Stomach	stomach
44	chr15:41578200-41592600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:41578400-41581400	Genic enhancers	HepG2	liver
46	chr15:41578400-41581600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:41578400-41592600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:41578600-41581200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:41578800-41581200	Strong transcription	Colonic Mucosa	Colon
50	chr15:41578800-41581600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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