Variant report

Variant	nsv832964
Chromosome Location	chr15:33608771-33784018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:33705823..33709150-chr15:33710958..33713846,3	K562	blood:
2	chr15:33751077..33753937-chr15:33756239..33758312,2	K562	blood:
3	chr15:33751077..33753937-chr15:33756239..33758312,2	K562	blood:
4	chr15:33778958..33781584-chr15:33783377..33785698,2	K562	blood:
5	chr15:33604912..33607577-chr15:33610572..33613167,2	K562	blood:
6	chr15:33655798..33658171-chr15:33661026..33663355,2	K562	blood:
7	chr15:33688402..33689977-chr15:33693470..33695148,2	K562	blood:
8	chr15:33655798..33658171-chr15:33661026..33663355,2	K562	blood:
9	chr15:33688402..33689977-chr15:33693470..33695148,2	K562	blood:
10	chr15:33778958..33781584-chr15:33783377..33785698,2	K562	blood:
11	chr15:33705823..33709150-chr15:33710958..33713846,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHRM5-4	chr15:33625688-33625966	ucscGeneNc_uc001zjc_2

No data

Extended variants
information (count: 6558 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:6558 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373808387	chr15:33608833-33608834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117140230	chr15:33608855-33608856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549985068	chr15:33608868-33608869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199597289	chr15:33608972-33608973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568590035	chr15:33609035-33609036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183626168	chr15:33609040-33609041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs137900327	chr15:33609062-33609063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566126376	chr15:33609063-33609064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539735655	chr15:33609114-33609115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558464581	chr15:33609120-33609121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576541379	chr15:33609132-33609133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115445798	chr15:33609311-33609312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555953732	chr15:33609325-33609326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142329263	chr15:33609326-33609327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145174021	chr15:33609393-33609394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559712024	chr15:33609411-33609412	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527326672	chr15:33609412-33609413	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545763682	chr15:33609417-33609418	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201739079	chr15:33609420-33609421	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2676081	chr15:33609429-33609430	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs549963129	chr15:33609457-33609458	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138998073	chr15:33609458-33609459	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs8028442	chr15:33609460-33609461	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs8034688	chr15:33609465-33609466	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189161984	chr15:33609478-33609479	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539851624	chr15:33609493-33609494	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79667526	chr15:33609501-33609502	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112029563	chr15:33609512-33609513	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79873843	chr15:33609543-33609544	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116796640	chr15:33609567-33609568	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555541472	chr15:33609577-33609578	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149406484	chr15:33609581-33609582	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73374800	chr15:33609599-33609600	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553482914	chr15:33609608-33609609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571924060	chr15:33609611-33609612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182007179	chr15:33609629-33609630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140529470	chr15:33609680-33609681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564189470	chr15:33609682-33609683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144761880	chr15:33609686-33609687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543400790	chr15:33609687-33609688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561857113	chr15:33609782-33609783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114798912	chr15:33609797-33609798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184317246	chr15:33609836-33609837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189046379	chr15:33609926-33609927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181221371	chr15:33609972-33609973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561282512	chr15:33609980-33609981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186408792	chr15:33610004-33610005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557075438	chr15:33610009-33610010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79166622	chr15:33610019-33610020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542822602	chr15:33610073-33610074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33606600-33615600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:33608200-33615800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:33609400-33609600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:33609400-33610200	Enhancers	Fetal Muscle Leg	muscle
5	chr15:33610200-33611200	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:33610400-33611000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr15:33610600-33611400	Enhancers	Brain Germinal Matrix	brain
8	chr15:33611400-33611600	Enhancers	Fetal Muscle Leg	muscle
9	chr15:33611400-33611800	Weak transcription	Brain Germinal Matrix	brain
10	chr15:33611800-33612000	Bivalent Enhancer	HSMMtube	muscle
11	chr15:33611800-33612400	Enhancers	Brain Germinal Matrix	brain
12	chr15:33613200-33613600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr15:33614400-33616400	Enhancers	Dnd41	blood
14	chr15:33614400-33617000	Enhancers	Fetal Thymus	thymus
15	chr15:33615000-33616400	Enhancers	Thymus	Thymus
16	chr15:33615600-33616200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:33615600-33616200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:33615600-33616200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:33615600-33616400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr15:33615600-33616800	Enhancers	GM12878-XiMat	blood
21	chr15:33615600-33617200	Enhancers	Primary B cells from peripheral blood	blood
22	chr15:33615800-33616200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr15:33615800-33616200	Enhancers	HSMMtube	muscle
24	chr15:33615800-33616400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr15:33615800-33616400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:33616000-33616600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr15:33616200-33616400	Flanking Active TSS	HSMMtube	muscle
28	chr15:33616200-33620400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:33616200-33620800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:33616400-33617400	Weak transcription	Thymus	Thymus
31	chr15:33617400-33617600	Enhancers	Thymus	Thymus
32	chr15:33620400-33621000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:33620600-33621400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:33630800-33649200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:33631800-33634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:33633800-33635800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:33634200-33634400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:33634200-33634600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:33634200-33634600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr15:33634200-33635800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:33634200-33636000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr15:33634400-33634600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:33634400-33634800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr15:33634600-33635600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:33634600-33635800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:33634800-33635200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:33635000-33635200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:33635200-33635400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:33635200-33635800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr15:33635200-33636000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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