Variant report

Variant	nsv457123
Chromosome Location	chr15:45074519-45099142
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:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45094810..45097168-chr15:45098428..45100206,2	K562	blood:
2	chr15:45068193..45071978-chr15:45073632..45077696,5	K562	blood:
3	chr15:45003320..45005264-chr15:45079269..45081855,2	K562	blood:
4	chr15:45078360..45081782-chr15:45082145..45085958,6	K562	blood:
5	chr15:44970663..44972208-chr15:45073819..45076712,2	K562	blood:
6	chr15:45074115..45076771-chr15:45078811..45081683,3	K562	blood:
7	chr15:44954130..44956261-chr15:45073217..45077809,7	K562	blood:
8	chr15:45088575..45090576-chr15:45093916..45096665,2	K562	blood:
9	chr15:45094810..45096971-chr15:45098706..45103803,4	K562	blood:
10	chr15:45003617..45005985-chr15:45093478..45096391,2	K562	blood:
11	chr15:45078400..45082133-chr15:45082665..45085139,3	K562	blood:
12	chr15:45050487..45053149-chr15:45073962..45077607,3	K562	blood:
13	chr15:45018290..45020903-chr15:45076318..45078549,2	K562	blood:
14	chr15:45088575..45090576-chr15:45093916..45096665,2	K562	blood:
15	chr15:45094810..45097168-chr15:45098428..45100206,2	K562	blood:
16	chr15:44829337..44830847-chr15:45073722..45076273,2	K562	blood:
17	chr15:45098451..45101074-chr15:45104343..45106886,2	K562	blood:
18	chr15:45002568..45005264-chr15:45079269..45082094,2	K562	blood:
19	chr15:45074115..45076771-chr15:45078811..45081683,3	K562	blood:
20	chr15:45078400..45082133-chr15:45082665..45085139,3	K562	blood:
21	chr15:45007223..45009349-chr15:45075066..45077596,2	K562	blood:
22	chr15:45003576..45005117-chr15:45094891..45096857,2	K562	blood:
23	chr15:45005716..45006437-chr15:45076991..45077613,2	MCF-7	breast:
24	chr15:45078360..45081782-chr15:45082145..45085958,6	K562	blood:
25	chr15:44949692..44958566-chr15:45073635..45082479,18	K562	blood:
26	chr15:45094810..45096971-chr15:45098706..45103803,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PATL2-4	chr15:45075779-45076489	NONHSAT042194

No data

Variant related genes	Relation type
ENSG00000229474	chromatin interactions
ENSG00000104131	chromatin interactions
ENSG00000166710	chromatin interactions
ENSG00000104133	chromatin interactions
ENSG00000185880	chromatin interactions

Extended variants
information (count: 1091 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2462043	chr15:45074519-45074520	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565150168	chr15:45074574-45074575	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs183859310	chr15:45074590-45074591	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs543783637	chr15:45074658-45074659	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs560583217	chr15:45074668-45074669	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs529730743	chr15:45074697-45074698	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs376435306	chr15:45074704-45074705	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs546243191	chr15:45074715-45074716	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs560002601	chr15:45074717-45074718	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs528651785	chr15:45074729-45074730	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs551705232	chr15:45074740-45074741	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs545111046	chr15:45074741-45074742	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs566814578	chr15:45074743-45074744	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs112590046	chr15:45074757-45074758	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs1630168	chr15:45074774-45074775	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141113032	chr15:45074825-45074826	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs567711826	chr15:45074836-45074837	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs1720723	chr15:45074883-45074884	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs553460793	chr15:45074884-45074885	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs149727209	chr15:45074911-45074912	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188864044	chr15:45074919-45074920	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs558497922	chr15:45074920-45074921	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575479215	chr15:45074966-45074967	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs16974543	chr15:45074967-45074968	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560890488	chr15:45074975-45074976	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs374552383	chr15:45074980-45074981	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs560542866	chr15:45074986-45074987	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs574055162	chr15:45074990-45074991	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371982080	chr15:45074999-45075000	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs193040428	chr15:45075008-45075009	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs560165868	chr15:45075031-45075032	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs78297053	chr15:45075074-45075075	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs77072858	chr15:45075075-45075076	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs532137687	chr15:45075114-45075115	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs551936879	chr15:45075118-45075119	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs565382229	chr15:45075137-45075138	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs531230902	chr15:45075140-45075141	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs551246793	chr15:45075152-45075153	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs184455106	chr15:45075167-45075168	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs530080572	chr15:45075207-45075208	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs374357759	chr15:45075222-45075223	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs368003638	chr15:45075234-45075235	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs546697799	chr15:45075250-45075251	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs372231851	chr15:45075298-45075299	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs566934918	chr15:45075311-45075312	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs117000436	chr15:45075336-45075337	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs145557572	chr15:45075383-45075384	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs568757840	chr15:45075389-45075390	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs58940927	chr15:45075415-45075416	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs60993689	chr15:45075417-45075418	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
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
Basal cell lymphoma	17053054	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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45047600-45076000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:45057200-45076000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:45072600-45075800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:45073600-45075200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:45073600-45075200	Weak transcription	Hela-S3	cervix
6	chr15:45073600-45075400	Enhancers	HSMM	muscle
7	chr15:45073600-45076000	Enhancers	HMEC	breast
8	chr15:45073600-45076200	Weak transcription	Brain Angular Gyrus	brain
9	chr15:45073800-45075400	Enhancers	HSMMtube	muscle
10	chr15:45073800-45076000	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:45073800-45076200	Weak transcription	Brain Substantia Nigra	brain
12	chr15:45074000-45076000	Enhancers	K562	blood
13	chr15:45074200-45076000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:45074200-45076000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:45074200-45076000	Weak transcription	HepG2	liver
16	chr15:45074400-45075200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:45074800-45075400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:45075000-45075200	Enhancers	Primary hematopoietic stem cells	blood
19	chr15:45075000-45075200	Enhancers	Fetal Muscle Leg	muscle
20	chr15:45075000-45075400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr15:45075200-45076200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:45075200-45076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:45075200-45076200	Enhancers	Hela-S3	cervix
24	chr15:45075200-45076400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:45075200-45076400	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:45075400-45075600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr15:45075400-45075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:45075400-45076200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr15:45075400-45076200	Enhancers	HUVEC	blood vessel
30	chr15:45075400-45076400	Weak transcription	HSMM	muscle
31	chr15:45075400-45076400	Weak transcription	HSMMtube	muscle
32	chr15:45075600-45077000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr15:45075800-45076000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr15:45075800-45076000	Enhancers	GM12878-XiMat	blood
35	chr15:45075800-45076000	Enhancers	NH-A	brain
36	chr15:45075800-45076200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:45075800-45076200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:45075800-45076400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:45075800-45077200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr15:45076000-45076200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr15:45076000-45076200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr15:45076000-45076200	Enhancers	Primary B cells from peripheral blood	blood
43	chr15:45076000-45076200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr15:45076000-45076200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:45076000-45076200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr15:45076000-45076200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr15:45076000-45076200	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr15:45076000-45076200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr15:45076000-45076200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:45076000-45076200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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