Variant report

Variant	nsv826283
Chromosome Location	chr12:24902154-24965379
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:19)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:24748352..24749237-chr12:24931539..24932547,4	K562	blood:
2	chr12:24962988..24964519-chr12:24967652..24970354,2	K562	blood:
3	chr12:24928533..24930157-chr12:24935258..24937081,2	K562	blood:
4	chr12:24727299..24728129-chr12:24931571..24932267,2	K562	blood:
5	chr12:24952418..24954851-chr12:25537652..25539269,2	K562	blood:
6	chr12:24905416..24908277-chr12:24908479..24910331,2	K562	blood:
7	chr12:24748344..24749063-chr12:24931573..24932396,2	MCF-7	breast:
8	chr12:24908273..24911152-chr12:24917896..24919412,2	K562	blood:
9	chr12:24928533..24930157-chr12:24935258..24937081,2	K562	blood:
10	chr12:24902134..24904126-chr12:24907515..24909258,2	K562	blood:
11	chr12:24908273..24911152-chr12:24917896..24919412,2	K562	blood:
12	chr12:24905416..24908277-chr12:24908479..24910331,2	K562	blood:
13	chr12:24947966..24950896-chr12:24952610..24955592,2	K562	blood:
14	chr12:24947966..24950896-chr12:24952610..24955592,2	K562	blood:
15	chr12:24934124..24934639-chr17:59489487..59490272,2	MCF-7	breast:
16	chr12:24959610..24961654-chr12:24967893..24970356,2	K562	blood:
17	chr12:24738799..24739892-chr12:24931469..24932575,4	K562	blood:
18	chr12:24902134..24904126-chr12:24907515..24909258,2	K562	blood:
19	chr12:23499573..23501871-chr12:24948381..24950433,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRMP-4	chr12:24926905-24927568	XLOC_009690
2	lnc-LRMP-4	chr12:24926905-24927147	ENSG00000255745
3	lnc-LRMP-4	chr12:24916795-24916866	ENSG00000255745
4	lnc-LRMP-4	chr12:24920063-24920160	ENSG00000255745
5	lnc-LRMP-4	chr12:24920107-24920160	XLOC_009690
6	lnc-LRMP-4	chr12:24913064-24913128	ENSG00000255745

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	BCAT1	hsa-let-7b-5p	chr12:24964511-24964532
2	BCAT1	hsa-let-7a-5p	chr12:24964511-24964532
3	BCAT1	hsa-let-7b-5p	chr12:24964517-24964510
4	BCAT1	hsa-miR-32-5p	chr12:24965155-24965174
5	BCAT1	hsa-let-7a-5p	chr12:24964517-24964510

Variant related genes	Relation type
EIF5A2	miRNA target sites
ELAVL1	miRNA target sites

Extended variants
information (count: 2677 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2677 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189798593	chr12:24902174-24902175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559409037	chr12:24902175-24902176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149032225	chr12:24902253-24902254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552790157	chr12:24902260-24902261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376083701	chr12:24902293-24902294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116766949	chr12:24902332-24902333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114515069	chr12:24902349-24902350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531071125	chr12:24902368-24902369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182452234	chr12:24902410-24902411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143100337	chr12:24902418-24902419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76342992	chr12:24902431-24902432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56138098	chr12:24902446-24902447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188394838	chr12:24902464-24902465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568670202	chr12:24902544-24902545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529684309	chr12:24902547-24902548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192881026	chr12:24902606-24902607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569389019	chr12:24902607-24902608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536782655	chr12:24902633-24902634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558246428	chr12:24902637-24902638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183839922	chr12:24902650-24902651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534519060	chr12:24902673-24902674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148222392	chr12:24902689-24902690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574681914	chr12:24902700-24902701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542201244	chr12:24902724-24902725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141585329	chr12:24902770-24902771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145474164	chr12:24902787-24902788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137985771	chr12:24902797-24902798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564576514	chr12:24902804-24902805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528656581	chr12:24902805-24902806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549919824	chr12:24902806-24902807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540510864	chr12:24902817-24902818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6487410	chr12:24902821-24902822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188379831	chr12:24902839-24902840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548152322	chr12:24902864-24902865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569274269	chr12:24902897-24902898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530446083	chr12:24902901-24902902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551808675	chr12:24902905-24902906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554159454	chr12:24902935-24902936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201515146	chr12:24902962-24902963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570218875	chr12:24902968-24902969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34889215	chr12:24902969-24902970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386375929	chr12:24902970-24902971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71063345	chr12:24902980-24902981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192371230	chr12:24902987-24902988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7297474	chr12:24903005-24903006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7311820	chr12:24903006-24903007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552937606	chr12:24903035-24903036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184987050	chr12:24903037-24903038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566102700	chr12:24903089-24903090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535355541	chr12:24903105-24903106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24897600-24902200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:24897600-24907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:24898000-24907600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:24899200-24902600	Enhancers	Fetal Heart	heart
5	chr12:24899200-24904000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:24899200-24905000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:24899400-24902400	Enhancers	Ovary	ovary
8	chr12:24899600-24903200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:24899800-24903400	Enhancers	HepG2	liver
10	chr12:24900000-24903400	Weak transcription	NHLF	lung
11	chr12:24900600-24904000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:24900800-24903800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:24901000-24903800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:24901200-24903800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:24901400-24903200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:24901600-24902400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:24901600-24902400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:24901600-24902400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:24901600-24903400	Weak transcription	Fetal Lung	lung
20	chr12:24901600-24909200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:24901600-24912800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:24901800-24902200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:24901800-24903800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:24901800-24903800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:24902000-24903200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:24902000-24903600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:24902200-24902600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:24902200-24907600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:24902400-24902600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:24902400-24903400	Weak transcription	Ovary	ovary
31	chr12:24902400-24903600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr12:24902400-24905000	Enhancers	NH-A	brain
33	chr12:24902400-24907600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:24902600-24903400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:24903200-24903600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:24903200-24903800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:24903200-24904000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:24903400-24903600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:24903400-24903600	Enhancers	Ovary	ovary
40	chr12:24903400-24903800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:24903400-24904000	Flanking Active TSS	HepG2	liver
42	chr12:24903400-24904200	Enhancers	NHLF	lung
43	chr12:24903400-24904400	Enhancers	HSMM	muscle
44	chr12:24903400-24904600	Enhancers	Fetal Lung	lung
45	chr12:24903600-24903800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:24903600-24903800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:24903600-24904200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:24903600-24907600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:24903600-24907800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:24903800-24904600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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