Variant report

Variant	nsv558787
Chromosome Location	chr12:47945797-47981313
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:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:47969970..47972142-chr12:47972144..47974115,2	K562	blood:
2	chr12:47969970..47972142-chr12:47972144..47974115,2	K562	blood:
3	chr12:47955362..47958310-chr12:48025284..48027406,2	MCF-7	breast:
4	chr12:47978595..47981359-chr12:47984602..47986611,2	K562	blood:
5	chr12:47949400..47951691-chr12:47954293..47957038,2	MCF-7	breast:
6	chr12:47969081..47971247-chr12:47974364..47977314,2	MCF-7	breast:
7	chr12:47954626..47957338-chr12:47968383..47970833,2	K562	blood:
8	chr12:47954626..47957338-chr12:47968383..47970833,2	K562	blood:
9	chr12:47975336..47978227-chr12:47979914..47982995,4	K562	blood:
10	chr12:47975336..47978227-chr12:47979914..47982995,4	K562	blood:
11	chr12:47947520..47950380-chr12:47954557..47956247,2	MCF-7	breast:
12	chr12:47959788..47962194-chr12:47969072..47971219,2	K562	blood:
13	chr12:47974012..47976836-chr12:47979914..47981559,2	K562	blood:
14	chr12:47960869..47963224-chr12:47965190..47966994,3	K562	blood:
15	chr12:47960869..47963224-chr12:47965190..47966994,3	K562	blood:
16	chr12:47959788..47962194-chr12:47969072..47971219,2	K562	blood:
17	chr12:47951165..47953932-chr12:47955672..47957240,2	MCF-7	breast:
18	chr12:47949400..47951691-chr12:47954293..47957038,2	MCF-7	breast:
19	chr12:47947520..47950380-chr12:47954557..47956247,2	MCF-7	breast:
20	chr12:47969081..47971247-chr12:47974364..47977314,2	MCF-7	breast:
21	chr12:47951165..47953932-chr12:47955672..47957240,2	MCF-7	breast:
22	chr12:47974012..47976836-chr12:47979914..47981559,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC48A1-6	chr12:47947058-47947319	expReg_chr12_3796_+

No data

Extended variants
information (count: 1324 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1324 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2214527	chr12:47945797-47945798	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540716998	chr12:47945821-47945822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140037289	chr12:47945899-47945900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188162897	chr12:47945915-47945916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7314490	chr12:47945956-47945957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570722964	chr12:47945959-47945960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571671362	chr12:47945988-47945989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534623625	chr12:47945989-47945990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558012528	chr12:47945999-47946000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146882230	chr12:47946061-47946062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112041908	chr12:47946064-47946065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140580948	chr12:47946111-47946112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535349700	chr12:47946115-47946116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199514502	chr12:47946249-47946250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563678060	chr12:47946251-47946252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374817427	chr12:47946283-47946284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75941189	chr12:47946304-47946305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559803400	chr12:47946342-47946343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528471106	chr12:47946370-47946371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181091316	chr12:47946407-47946408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565561371	chr12:47946414-47946415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531055377	chr12:47946447-47946448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12308762	chr12:47946485-47946486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74736677	chr12:47946562-47946563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185536330	chr12:47946564-47946565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548638729	chr12:47946583-47946584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190441385	chr12:47946591-47946592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370584247	chr12:47946611-47946612	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182091950	chr12:47946666-47946667	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557809371	chr12:47946739-47946740	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10783205	chr12:47946795-47946796	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536903761	chr12:47946805-47946806	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149188661	chr12:47946809-47946810	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187173329	chr12:47946810-47946811	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543167362	chr12:47946838-47946839	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369255265	chr12:47946863-47946864	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559868404	chr12:47946896-47946897	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373717801	chr12:47946938-47946939	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10875662	chr12:47946958-47946959	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545379246	chr12:47946976-47946977	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78526254	chr12:47947098-47947099	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs77371536	chr12:47947118-47947119	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs192483000	chr12:47947186-47947187	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs561167672	chr12:47947192-47947193	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs370071327	chr12:47947204-47947205	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs530208905	chr12:47947213-47947214	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs7296656	chr12:47947223-47947224	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146966129	chr12:47947236-47947237	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs545878677	chr12:47947279-47947280	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs137984842	chr12:47947295-47947296	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47943600-47951600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:47944200-47946000	Enhancers	Fetal Stomach	stomach
3	chr12:47944200-47946400	Enhancers	Rectal Smooth Muscle	rectum
4	chr12:47944200-47953000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:47944400-47946400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:47944400-47946400	Enhancers	Colon Smooth Muscle	Colon
7	chr12:47944800-47946600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:47945000-47946400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:47945200-47945800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:47945200-47945800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:47945200-47945800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:47945200-47945800	Enhancers	A549	lung
13	chr12:47945200-47946000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:47945400-47945800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:47945600-47946000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:47945600-47946000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr12:47945600-47946000	Enhancers	NHDF-Ad	bronchial
18	chr12:47945800-47946200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:47945800-47947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:47946000-47947000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:47946400-47946800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:47946400-47947000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:47946400-47949800	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:47946600-47947200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr12:47946800-47947400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:47947000-47947400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:47947000-47948000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:47947200-47948000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:47947200-47949400	Enhancers	Dnd41	blood
30	chr12:47947200-47953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:47947400-47948200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:47947400-47951000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:47947800-47948400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:47947800-47948800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:47948000-47948800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:47948000-47949000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:47948000-47949000	Weak transcription	HMEC	breast
38	chr12:47948000-47949200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:47948200-47948400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:47948200-47948600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr12:47948200-47948600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr12:47949000-47950000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:47949000-47953200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:47949200-47950200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr12:47949600-47951600	Enhancers	HMEC	breast
46	chr12:47949600-47952000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:47949800-47950200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:47949800-47950800	Enhancers	NHEK	skin
49	chr12:47949800-47953400	Enhancers	Colon Smooth Muscle	Colon
50	chr12:47950000-47950200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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