Variant report

Variant	nsv973038
Chromosome Location	chr12:26221928-26224398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSPN-5	chr12:26224196-26225483	ucscGeneNc_uc001rhc_2

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RASSF8	hsa-miR-130b-3p	chr12:26224343-26224364
2	RASSF8	hsa-miR-192-5p	chr12:26224125-26224146

Extended variants
information (count: 92 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35953710	chr12:26221957-26221958	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139099890	chr12:26221993-26221994	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562750416	chr12:26222007-26222008	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577766155	chr12:26222014-26222015	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545602311	chr12:26222098-26222099	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574487952	chr12:26222101-26222102	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141650587	chr12:26222106-26222107	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114677809	chr12:26222123-26222124	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550171024	chr12:26222151-26222152	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199938064	chr12:26222159-26222160	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200872751	chr12:26222160-26222161	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540203450	chr12:26222163-26222164	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553831721	chr12:26222169-26222170	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147029186	chr12:26222176-26222177	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148091474	chr12:26222179-26222180	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367979051	chr12:26222189-26222190	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550853989	chr12:26222222-26222223	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187407876	chr12:26222253-26222254	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533124343	chr12:26222270-26222271	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192593023	chr12:26222367-26222368	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550370503	chr12:26222409-26222410	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141858989	chr12:26222448-26222449	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185030250	chr12:26222484-26222485	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555720797	chr12:26222487-26222488	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567279539	chr12:26222488-26222489	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370527260	chr12:26222491-26222492	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75790334	chr12:26222504-26222505	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577831969	chr12:26222588-26222589	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376427094	chr12:26222589-26222590	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150687831	chr12:26222627-26222628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557594672	chr12:26222689-26222690	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572890193	chr12:26222690-26222691	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578164005	chr12:26222719-26222720	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11048399	chr12:26222732-26222733	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561677068	chr12:26222738-26222739	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1546550	chr12:26222745-26222746	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs10129050	chr12:26222768-26222769	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562740647	chr12:26222805-26222806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376612699	chr12:26222833-26222834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533015883	chr12:26222887-26222888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545416838	chr12:26222981-26222982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551533848	chr12:26223032-26223033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190328793	chr12:26223103-26223104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527792542	chr12:26223117-26223118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138983529	chr12:26223161-26223162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567341349	chr12:26223190-26223191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530184302	chr12:26223305-26223306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537812892	chr12:26223330-26223331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556472848	chr12:26223381-26223382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2271480	chr12:26223438-26223439	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:88)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26192400-26228600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:26197200-26228600	Weak transcription	Aorta	Aorta
3	chr12:26200800-26229000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:26201000-26223400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:26201200-26234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:26201600-26236200	Weak transcription	Right Ventricle	heart
7	chr12:26206800-26229600	Weak transcription	Ovary	ovary
8	chr12:26206800-26229800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:26207400-26223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:26207800-26224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:26207800-26224000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:26208400-26234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:26209600-26224800	Weak transcription	Brain Anterior Caudate	brain
14	chr12:26209600-26230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:26211400-26227400	Weak transcription	Placenta	Placenta
16	chr12:26211600-26223800	Weak transcription	Fetal Intestine Large	intestine
17	chr12:26211600-26234600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:26211800-26230800	Weak transcription	Fetal Lung	lung
19	chr12:26212200-26223400	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:26214400-26224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:26215200-26230200	Weak transcription	Adipose Nuclei	Adipose
22	chr12:26215600-26222600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:26215800-26230800	Weak transcription	A549	lung
24	chr12:26216000-26226800	Weak transcription	Hela-S3	cervix
25	chr12:26216000-26227600	Weak transcription	HSMMtube	muscle
26	chr12:26216000-26228800	Weak transcription	HSMM	muscle
27	chr12:26216000-26229200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:26216000-26230400	Weak transcription	Psoas Muscle	Psoas
29	chr12:26216000-26230600	Weak transcription	HMEC	breast
30	chr12:26216000-26230800	Weak transcription	NHLF	lung
31	chr12:26216000-26231000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:26216200-26230800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:26216200-26231000	Weak transcription	NH-A	brain
34	chr12:26216400-26223400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:26217000-26226200	Strong transcription	NHDF-Ad	bronchial
36	chr12:26217400-26222400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:26217800-26223400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:26218200-26224000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:26218200-26224000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:26219800-26224000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:26220200-26222800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:26220200-26223200	Strong transcription	Osteobl	bone
43	chr12:26220400-26222000	Weak transcription	Small Intestine	intestine
44	chr12:26220600-26222000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:26220600-26227600	Weak transcription	Fetal Kidney	kidney
46	chr12:26220800-26222400	Strong transcription	Left Ventricle	heart
47	chr12:26220800-26222400	Strong transcription	HUVEC	blood vessel
48	chr12:26220800-26222600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:26220800-26225000	Weak transcription	Brain Substantia Nigra	brain
50	chr12:26221000-26222600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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