Variant report

Variant	nsv899496
Chromosome Location	chr12:105152391-105199038
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:23)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105184845..105186362-chr12:105189504..105191210,2	K562	blood:
2	chr12:105184083..105184965-chr12:105220814..105221546,2	K562	blood:
3	chr12:105172416..105175180-chr12:105175349..105177504,2	K562	blood:
4	chr12:105184845..105186362-chr12:105189504..105191210,2	K562	blood:
5	chr12:105114827..105117713-chr12:105150243..105152886,2	K562	blood:
6	chr12:105146747..105148409-chr12:105161769..105164567,2	K562	blood:
7	chr12:105187897..105189481-chr12:105191929..105194027,2	K562	blood:
8	chr12:105187897..105189481-chr12:105191929..105194027,2	K562	blood:
9	chr12:105065660..105066217-chr12:105169545..105170241,2	MCF-7	breast:
10	chr12:105167548..105170068-chr12:105170304..105172425,2	MCF-7	breast:
11	chr12:105148544..105150678-chr12:105152923..105154577,2	K562	blood:
12	chr12:105167548..105170068-chr12:105170304..105172425,2	MCF-7	breast:
13	chr12:105173249..105175093-chr12:105175948..105178622,2	MCF-7	breast:
14	chr12:105156899..105157460-chr12:105169554..105170172,2	MCF-7	breast:
15	chr12:105166605..105169124-chr12:105175430..105176938,2	MCF-7	breast:
16	chr12:105140750..105142550-chr12:105151278..105155246,3	MCF-7	breast:
17	chr12:105156899..105157460-chr12:105169554..105170172,2	MCF-7	breast:
18	chr12:105173249..105175093-chr12:105175948..105178622,2	MCF-7	breast:
19	chr12:105166605..105169124-chr12:105175430..105176938,2	MCF-7	breast:
20	chr12:105154675..105157648-chr12:105161416..105163979,2	K562	blood:
21	chr12:105180077..105182540-chr12:105221823..105224422,2	K562	blood:
22	chr12:105172416..105175180-chr12:105175349..105177504,2	K562	blood:
23	chr12:105154675..105157648-chr12:105161416..105163979,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST11-2	chr12:105166326-105166656	l_719_chr12:105166325-105170689_thyroid
2	lnc-CHST11-2	chr12:105167648-105167686	l_719_chr12:105166325-105170689_thyroid
3	lnc-C12orf45-3	chr12:105151948-105155783	NONHSAT030431
4	lnc-CHST11-2	chr12:105170038-105170689	l_719_chr12:105166325-105170689_thyroid

No data

Extended variants
information (count: 1514 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1514 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2468110	chr12:105152391-105152392	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35743683	chr12:105152410-105152411	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs147863103	chr12:105152450-105152451	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs189494917	chr12:105152502-105152503	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181825011	chr12:105152550-105152551	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs541196309	chr12:105152552-105152553	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs564397048	chr12:105152569-105152570	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs533297368	chr12:105152570-105152571	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs536694667	chr12:105152587-105152588	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs372800259	chr12:105152623-105152624	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs550037779	chr12:105152674-105152675	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs117527286	chr12:105152701-105152702	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs61940581	chr12:105152747-105152748	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs115572502	chr12:105152790-105152791	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs548402355	chr12:105152810-105152811	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs568180826	chr12:105152847-105152848	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs555108061	chr12:105152880-105152881	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs76096693	chr12:105152888-105152889	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs535912915	chr12:105152890-105152891	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs570695638	chr12:105152930-105152931	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1565814	chr12:105152960-105152961	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12828253	chr12:105152986-105152987	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs556813734	chr12:105152996-105152997	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs2463018	chr12:105152997-105152998	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs558791880	chr12:105153027-105153028	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs12829575	chr12:105153050-105153051	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs12829596	chr12:105153083-105153084	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs535390848	chr12:105153148-105153149	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs12828314	chr12:105153154-105153155	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs12828664	chr12:105153156-105153157	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs12828669	chr12:105153162-105153163	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs12829819	chr12:105153190-105153191	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs12828694	chr12:105153191-105153192	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs372245623	chr12:105153194-105153195	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs2453154	chr12:105153208-105153209	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs12828502	chr12:105153211-105153212	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs12829969	chr12:105153212-105153213	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs3782418	chr12:105153252-105153253	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs12828538	chr12:105153278-105153279	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs183879441	chr12:105153299-105153300	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs146432420	chr12:105153300-105153301	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs535579677	chr12:105153336-105153337	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs577763421	chr12:105153378-105153379	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs111978655	chr12:105153405-105153406	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs555893535	chr12:105153426-105153427	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs531622042	chr12:105153431-105153432	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs115508423	chr12:105153446-105153447	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs574301657	chr12:105153465-105153466	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs77465182	chr12:105153495-105153496	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs547476802	chr12:105153511-105153512	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105136800-105154400	Weak transcription	Right Ventricle	heart
2	chr12:105137000-105152600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:105137200-105154000	Weak transcription	Brain Substantia Nigra	brain
4	chr12:105137200-105157000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:105141600-105155400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:105142400-105154600	Weak transcription	Fetal Brain Male	brain
7	chr12:105142400-105160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:105142600-105158000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:105142800-105154800	Weak transcription	Fetal Brain Female	brain
10	chr12:105142800-105158200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:105143600-105154200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:105143800-105156800	Weak transcription	NHLF	lung
13	chr12:105143800-105160800	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:105144000-105158200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:105144200-105152600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:105144200-105154000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:105144200-105154000	Weak transcription	Left Ventricle	heart
18	chr12:105144200-105156800	Weak transcription	NHDF-Ad	bronchial
19	chr12:105144200-105157000	Weak transcription	NH-A	brain
20	chr12:105144200-105158000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:105145000-105153000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:105145200-105154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:105145200-105155600	Strong transcription	Dnd41	blood
24	chr12:105145200-105158200	Weak transcription	Adipose Nuclei	Adipose
25	chr12:105145400-105154200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:105145400-105161200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:105145600-105154800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:105145600-105162800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:105145800-105161200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:105145800-105161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:105145800-105161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:105146000-105161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:105146800-105153400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr12:105146800-105156000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:105146800-105161200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:105148200-105154000	Weak transcription	HSMM	muscle
37	chr12:105148400-105152600	Weak transcription	Fetal Intestine Small	intestine
38	chr12:105148400-105154800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:105148400-105156000	Weak transcription	Pancreas	Pancrea
40	chr12:105148800-105153800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:105149400-105152800	Weak transcription	Fetal Kidney	kidney
42	chr12:105149600-105157000	Weak transcription	HMEC	breast
43	chr12:105149800-105153600	Strong transcription	Fetal Thymus	thymus
44	chr12:105150000-105153000	Strong transcription	K562	blood
45	chr12:105150000-105154000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:105150000-105154000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:105150000-105154200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:105150000-105154400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:105150000-105155000	Strong transcription	Primary T cells from cord blood	blood
50	chr12:105150000-105155200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links