Variant report

Variant	nsv564731
Chromosome Location	chr14:46147441-46180960
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:2)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:46147083..46148164-chr14:46409225..46410271,4	MCF-7	breast:
2	chr14:46147376..46147982-chr14:46279500..46280082,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIS18BP1-1	chr14:46175475-46175705	ENSG00000258616
2	lnc-FANCM-5	chr14:46179124-46179145	NONHSAT036668
3	lnc-MIS18BP1-1	chr14:46175463-46175705	ENSG00000258616
4	lnc-MIS18BP1-1	chr14:46175453-46175705	ENSG00000258616
5	lnc-MIS18BP1-1	chr14:46177039-46177101	ENSG00000258616
6	lnc-MIS18BP1-1	chr14:46175495-46175705	XLOC_011012
7	lnc-MIS18BP1-1	chr14:46177058-46177101	NONHSAT036666
8	lnc-MIS18BP1-1	chr14:46175461-46175705	ENSG00000258616
9	lnc-MIS18BP1-1	chr14:46175461-46175705	ENSG00000258616

No data

Variant related genes	Relation type
ENSG00000258700	chromatin interactions
IGF2BP3	miRNA target sites

Extended variants
information (count: 1022 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1022 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7160658	chr14:46147441-46147442	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537714259	chr14:46147515-46147516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556433276	chr14:46147540-46147541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144323431	chr14:46147559-46147560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541859639	chr14:46147578-46147579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559974528	chr14:46147596-46147597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115308022	chr14:46147610-46147611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555980354	chr14:46147681-46147682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565443410	chr14:46147694-46147695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532761140	chr14:46147716-46147717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148778404	chr14:46147728-46147729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190840568	chr14:46147738-46147739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141460805	chr14:46147743-46147744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147494582	chr14:46147771-46147772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566605921	chr14:46147896-46147897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534002363	chr14:46147927-46147928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552271669	chr14:46147950-46147951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200303848	chr14:46147975-46147976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139871030	chr14:46148010-46148011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538050820	chr14:46148020-46148021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575633753	chr14:46148038-46148039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145326602	chr14:46148056-46148057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574708652	chr14:46148068-46148069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535081678	chr14:46148116-46148117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147670596	chr14:46148119-46148120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139180278	chr14:46148137-46148138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545872692	chr14:46148151-46148152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564173037	chr14:46148152-46148153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577510179	chr14:46148154-46148155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544831544	chr14:46148207-46148208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563024569	chr14:46148210-46148211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544565712	chr14:46148220-46148221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183552515	chr14:46148223-46148224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78888157	chr14:46148253-46148254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187852297	chr14:46148285-46148286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1906801	chr14:46148318-46148319	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552208541	chr14:46148343-46148344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571984242	chr14:46148345-46148346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570661572	chr14:46148373-46148374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372657218	chr14:46148388-46148389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540907801	chr14:46148405-46148406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537638299	chr14:46148464-46148465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376822623	chr14:46148489-46148490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192290862	chr14:46148493-46148494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17637416	chr14:46148494-46148495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554115800	chr14:46148507-46148508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184447956	chr14:46148509-46148510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74691778	chr14:46148574-46148575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557877411	chr14:46148601-46148602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576121392	chr14:46148606-46148607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46146800-46149800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:46147200-46148200	Weak transcription	NHEK	skin
3	chr14:46147600-46151200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr14:46148000-46148600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:46148000-46150600	Enhancers	HSMM	muscle
6	chr14:46148200-46148400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:46148200-46148400	Enhancers	HSMMtube	muscle
8	chr14:46148200-46149000	Enhancers	NHEK	skin
9	chr14:46148200-46149600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:46148200-46150400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:46148200-46150600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:46148200-46150800	Enhancers	HUVEC	blood vessel
13	chr14:46148200-46152200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:46148600-46148800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:46148600-46148800	Enhancers	NHLF	lung
16	chr14:46148600-46149000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:46148600-46149200	Enhancers	HMEC	breast
18	chr14:46148600-46149400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:46148600-46150400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:46148800-46149400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:46148800-46149400	Enhancers	Rectal Smooth Muscle	rectum
22	chr14:46148800-46149600	Enhancers	Colon Smooth Muscle	Colon
23	chr14:46148800-46149800	Weak transcription	NHLF	lung
24	chr14:46148800-46150400	Enhancers	NH-A	brain
25	chr14:46148800-46150600	Enhancers	Osteobl	bone
26	chr14:46149000-46149200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:46149000-46149200	Flanking Active TSS	NHEK	skin
28	chr14:46149000-46149400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:46149000-46149400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:46149000-46150000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:46149000-46150600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:46149200-46149400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:46149200-46149400	Enhancers	NHEK	skin
34	chr14:46149200-46150200	Weak transcription	HMEC	breast
35	chr14:46149400-46149600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:46149400-46149600	Flanking Active TSS	NHEK	skin
37	chr14:46149400-46149800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:46149400-46149800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:46149400-46150200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:46149400-46150400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:46149600-46150600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:46149600-46150600	Enhancers	NHEK	skin
43	chr14:46149800-46150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:46149800-46150400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:46149800-46150400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:46149800-46150600	Enhancers	NHLF	lung
47	chr14:46150000-46150400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:46150000-46150400	Enhancers	HSMMtube	muscle
49	chr14:46150200-46150600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:46150400-46150600	Enhancers	HMEC	breast

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