Variant report

Variant	nsv599658
Chromosome Location	chr5:124459547-124513012
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:124478793..124481294-chr5:124482364..124483984,2	K562	blood:
2	chr5:124478793..124481294-chr5:124482364..124483984,2	K562	blood:
3	chr5:124510130..124512819-chr5:124513957..124516828,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-43D2.2.1-13	chr5:124485221-124485622	ENSG00000249365
2	lnc-RP11-43D2.2.1-12	chr5:124505231-124505319	NR_109882
3	lnc-RP11-43D2.2.1-12	chr5:124494346-124494515	NR_109882

No data

Extended variants
information (count: 2061 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2061 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7735615	chr5:124459547-124459548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189884248	chr5:124459584-124459585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34735920	chr5:124459619-124459620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73305884	chr5:124459646-124459647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs151061203	chr5:124459664-124459665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182458930	chr5:124459671-124459672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6421892	chr5:124459706-124459707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535719149	chr5:124459707-124459708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577251707	chr5:124459714-124459715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200863518	chr5:124459722-124459723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536529731	chr5:124459754-124459755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150639531	chr5:124459776-124459777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138829792	chr5:124459792-124459793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370767803	chr5:124459801-124459802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1898911	chr5:124459820-124459821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1371380	chr5:124459828-124459829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546196037	chr5:124459840-124459841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185412876	chr5:124459853-124459854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556470560	chr5:124459856-124459857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189470163	chr5:124459882-124459883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180828345	chr5:124459905-124459906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549609641	chr5:124459912-124459913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115431412	chr5:124459932-124459933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139537847	chr5:124459964-124459965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569456399	chr5:124459973-124459974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377300372	chr5:124459990-124459991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562515775	chr5:124459998-124459999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1371381	chr5:124460014-124460015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185635333	chr5:124460049-124460050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535238827	chr5:124460075-124460076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374674450	chr5:124460082-124460083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568026398	chr5:124460113-124460114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144124546	chr5:124460120-124460121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547624082	chr5:124460198-124460199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565783924	chr5:124460201-124460202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539613008	chr5:124460296-124460297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551700955	chr5:124460297-124460298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111843556	chr5:124460337-124460338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537923848	chr5:124460356-124460357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76002745	chr5:124460393-124460394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111418028	chr5:124460480-124460481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139914458	chr5:124460531-124460532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554436075	chr5:124460539-124460540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73784272	chr5:124460547-124460548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs4836148	chr5:124460571-124460572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs576333117	chr5:124460589-124460590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576220944	chr5:124460625-124460626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142191205	chr5:124460633-124460634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190050061	chr5:124460694-124460695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181626081	chr5:124460704-124460705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124453600-124459800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:124454400-124460000	Weak transcription	Dnd41	blood
3	chr5:124456200-124470000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:124456200-124470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:124456400-124459800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:124456400-124465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:124459800-124460000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:124460000-124460800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:124460000-124461200	Enhancers	Dnd41	blood
10	chr5:124460200-124461600	Enhancers	Fetal Lung	lung
11	chr5:124460600-124462200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:124460800-124461000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:124460800-124461200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:124460800-124461200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr5:124460800-124461200	Enhancers	Stomach Mucosa	stomach
16	chr5:124460800-124461400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:124460800-124461400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:124460800-124461400	Enhancers	HSMMtube	muscle
19	chr5:124460800-124461400	Enhancers	NHDF-Ad	bronchial
20	chr5:124460800-124461600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:124461000-124461600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:124461000-124461600	Enhancers	A549	lung
23	chr5:124461000-124461600	Active TSS	NH-A	brain
24	chr5:124461200-124462400	Enhancers	Fetal Heart	heart
25	chr5:124461400-124465200	Weak transcription	NHDF-Ad	bronchial
26	chr5:124461400-124468200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:124461600-124462800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:124464800-124465600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:124464800-124465600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:124464800-124465600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:124464800-124465600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:124464800-124465600	Enhancers	HMEC	breast
33	chr5:124464800-124465800	Enhancers	NHEK	skin
34	chr5:124465000-124465400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:124465200-124465600	Enhancers	HUVEC	blood vessel
36	chr5:124465200-124465600	Enhancers	NHDF-Ad	bronchial
37	chr5:124465400-124470000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:124465400-124471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:124465600-124468600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:124465600-124470000	Weak transcription	HUVEC	blood vessel
41	chr5:124465600-124470000	Weak transcription	NHDF-Ad	bronchial
42	chr5:124466200-124468600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:124468200-124472000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:124468600-124468800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:124468600-124468800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:124468600-124469200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr5:124468800-124470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:124468800-124470000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:124469200-124469800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:124469400-124472400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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