Variant report

Variant	nsv899502
Chromosome Location	chr12:105862964-105904525
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:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:105866822..105868644-chr12:105870694..105872285,2	K562	blood:
2	chr12:105874327..105876569-chr12:105894873..105897769,2	MCF-7	breast:
3	chr12:105874327..105876569-chr12:105894873..105897769,2	MCF-7	breast:
4	chr12:105855241..105857321-chr12:105863634..105866501,2	MCF-7	breast:
5	chr12:105861881..105863943-chr12:106421999..106424753,2	K562	blood:
6	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:
7	chr12:105866822..105868644-chr12:105870694..105872285,2	K562	blood:
8	chr12:105864464..105865998-chr12:105866420..105868253,2	K562	blood:
9	chr12:105864464..105865998-chr12:105866420..105868253,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf75-5	chr12:105897693-105905365	NONHSAT030457
2	lnc-C12orf75-5	chr12:105863639-105863851	NONHSAT030457
3	lnc-APPL2-4	chr12:105871938-105873405	ucscGeneNc_uc001tma_2

No data

Extended variants
information (count: 1638 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1638 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17037213	chr12:105862964-105862965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547931661	chr12:105862980-105862981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141260009	chr12:105863015-105863016	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533108393	chr12:105863021-105863022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549881793	chr12:105863022-105863023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569703266	chr12:105863037-105863038	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535395589	chr12:105863044-105863045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73385048	chr12:105863071-105863072	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565918355	chr12:105863148-105863149	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534525628	chr12:105863199-105863200	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568346926	chr12:105863214-105863215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577411443	chr12:105863218-105863219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545918295	chr12:105863222-105863223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556220099	chr12:105863256-105863257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535543031	chr12:105863265-105863266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576384247	chr12:105863269-105863270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542162364	chr12:105863285-105863286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562255814	chr12:105863313-105863314	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571665601	chr12:105863393-105863394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572741433	chr12:105863420-105863421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs1526854	chr12:105863429-105863430	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116957053	chr12:105863497-105863498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76351075	chr12:105863509-105863510	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549918578	chr12:105863510-105863511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs563343823	chr12:105863575-105863576	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577457979	chr12:105863618-105863619	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528884820	chr12:105863654-105863655	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs374798119	chr12:105863689-105863690	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs548922230	chr12:105863695-105863696	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs544514839	chr12:105863723-105863724	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs565527932	chr12:105863739-105863740	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs534962374	chr12:105863769-105863770	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551238055	chr12:105863772-105863773	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs571140990	chr12:105863788-105863789	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs34093252	chr12:105863791-105863792	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs367665195	chr12:105863832-105863833	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs545847810	chr12:105863859-105863860	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558147190	chr12:105863883-105863884	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563077928	chr12:105863887-105863888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536813590	chr12:105863912-105863913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs138868601	chr12:105863918-105863919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs576444244	chr12:105863919-105863920	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs149370302	chr12:105863964-105863965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555780017	chr12:105863985-105863986	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572330008	chr12:105864025-105864026	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs541780764	chr12:105864045-105864046	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs530160337	chr12:105864048-105864049	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs188316113	chr12:105864051-105864052	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564736196	chr12:105864053-105864054	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs561657941	chr12:105864061-105864062	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105854200-105863000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:105857600-105863000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:105858200-105864000	Weak transcription	Fetal Brain Male	brain
4	chr12:105859600-105864000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:105860600-105863000	Weak transcription	NH-A	brain
6	chr12:105860600-105866200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:105860800-105863000	Enhancers	Adipose Nuclei	Adipose
8	chr12:105860800-105863800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:105861400-105863000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:105861400-105863200	Enhancers	Right Atrium	heart
11	chr12:105861400-105863600	Enhancers	Fetal Muscle Leg	muscle
12	chr12:105861400-105863600	Enhancers	Placenta	Placenta
13	chr12:105861400-105863800	Enhancers	Left Ventricle	heart
14	chr12:105861400-105864400	Enhancers	HSMMtube	muscle
15	chr12:105861800-105863000	Weak transcription	Aorta	Aorta
16	chr12:105862000-105864000	Weak transcription	Fetal Kidney	kidney
17	chr12:105862200-105863000	Weak transcription	Right Ventricle	heart
18	chr12:105862200-105863600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:105862200-105863600	Enhancers	Psoas Muscle	Psoas
20	chr12:105862400-105863000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:105862400-105863200	Weak transcription	Fetal Heart	heart
22	chr12:105862600-105863800	Enhancers	Lung	lung
23	chr12:105862600-105865000	Enhancers	HSMM	muscle
24	chr12:105862800-105864000	Flanking Active TSS	HUVEC	blood vessel
25	chr12:105862800-105864200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:105863000-105863200	Enhancers	Right Ventricle	heart
27	chr12:105863000-105863200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:105863000-105863600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:105863000-105863800	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:105863000-105864000	Enhancers	NH-A	brain
31	chr12:105863000-105864200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:105863000-105864200	Enhancers	Aorta	Aorta
33	chr12:105863200-105863400	Enhancers	Fetal Heart	heart
34	chr12:105863200-105864000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:105863200-105864000	Weak transcription	Right Ventricle	heart
36	chr12:105863200-105884200	Weak transcription	Right Atrium	heart
37	chr12:105863400-105863600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:105863400-105864200	Weak transcription	Fetal Heart	heart
39	chr12:105863600-105863800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:105863800-105864800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:105864000-105864200	Enhancers	Right Ventricle	heart
42	chr12:105864000-105864200	Active TSS	HUVEC	blood vessel
43	chr12:105864000-105864400	ZNF genes & repeats	Fetal Kidney	kidney
44	chr12:105864000-105864600	Enhancers	Fetal Brain Male	brain
45	chr12:105864000-105866800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:105864000-105868400	Weak transcription	NH-A	brain
47	chr12:105864200-105864400	Enhancers	Fetal Heart	heart
48	chr12:105864200-105864400	Flanking Active TSS	HUVEC	blood vessel
49	chr12:105864200-105868200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:105864400-105864600	Active TSS	HUVEC	blood vessel

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