Variant report

Variant	esv1840338
Chromosome Location	chr12:26367307-26390319
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:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:26377327..26379490-chr12:26385777..26389319,3	K562	blood:
2	chr12:26372294..26374868-chr12:26375069..26377161,2	MCF-7	breast:
3	chr12:26357801..26359384-chr12:26374632..26376428,2	K562	blood:
4	chr12:26379669..26381238-chr12:26381559..26383300,2	MCF-7	breast:
5	chr12:26379669..26381238-chr12:26381559..26383300,2	MCF-7	breast:
6	chr12:26372294..26374868-chr12:26375069..26377161,2	MCF-7	breast:
7	chr12:26386612..26388611-chr12:26391012..26393277,2	MCF-7	breast:
8	chr12:26377327..26379490-chr12:26385777..26389319,3	K562	blood:
9	chr12:26389613..26392747-chr12:26395888..26399490,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITPR2-2	chr12:26384856-26384918	ENSG00000255750.1
2	lnc-SSPN-3	chr12:26377226-26377312	NONHSAT027395
3	lnc-ITPR2-3	chr12:26367650-26367710	ENSG00000256234.1
4	lnc-ITPR2-2	chr12:26384327-26384713	ENSG00000255750.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SSPN	hsa-miR-335-5p	chr12:26386110-26386135

Extended variants
information (count: 813 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7955911	chr12:26367307-26367308	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs386761336	chr12:26367358-26367359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs755987	chr12:26367359-26367360	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548501102	chr12:26367360-26367361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569517745	chr12:26367375-26367376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537074418	chr12:26367377-26367378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558642317	chr12:26367400-26367401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201140295	chr12:26367419-26367420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191863262	chr12:26367638-26367639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534746822	chr12:26367639-26367640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114812406	chr12:26367646-26367647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369933101	chr12:26367683-26367684	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575003249	chr12:26367719-26367720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542141552	chr12:26367729-26367730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183255286	chr12:26367744-26367745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575521529	chr12:26367758-26367759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187949620	chr12:26367783-26367784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16930347	chr12:26367811-26367812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113657708	chr12:26367833-26367834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200000933	chr12:26367834-26367835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192428989	chr12:26367849-26367850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540357780	chr12:26367945-26367946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559268828	chr12:26367950-26367951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529918055	chr12:26368008-26368009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36034234	chr12:26368011-26368012	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76761562	chr12:26368019-26368020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530474576	chr12:26368073-26368074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555644662	chr12:26368074-26368075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570507808	chr12:26368099-26368100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534683206	chr12:26368165-26368166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546708571	chr12:26368198-26368199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12318254	chr12:26368240-26368241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550657147	chr12:26368357-26368358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74607045	chr12:26368371-26368372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142386273	chr12:26368412-26368413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575886115	chr12:26368475-26368476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539791035	chr12:26368486-26368487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557710396	chr12:26368586-26368587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572936782	chr12:26368612-26368613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151296390	chr12:26368649-26368650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573821589	chr12:26368662-26368663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567461777	chr12:26368755-26368756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562234816	chr12:26368835-26368836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574502633	chr12:26368902-26368903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183298952	chr12:26368914-26368915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530215890	chr12:26368972-26368973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530821439	chr12:26368995-26368996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375079793	chr12:26368996-26368997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369284253	chr12:26369039-26369040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552525044	chr12:26369051-26369052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	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
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26358600-26368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:26359200-26379600	Weak transcription	Aorta	Aorta
4	chr12:26359600-26379000	Weak transcription	Brain Angular Gyrus	brain
5	chr12:26360000-26368000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:26360000-26372800	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:26365000-26377400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:26366000-26367400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:26366000-26368600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:26366000-26379400	Weak transcription	Ovary	ovary
11	chr12:26366600-26368000	Weak transcription	Fetal Heart	heart
12	chr12:26366600-26390600	Weak transcription	HSMMtube	muscle
13	chr12:26367000-26367400	Enhancers	Psoas Muscle	Psoas
14	chr12:26367000-26367400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:26367400-26372800	Weak transcription	Psoas Muscle	Psoas
16	chr12:26367400-26379000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:26368000-26368600	Enhancers	Fetal Heart	heart
18	chr12:26368400-26368600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:26368600-26372000	Weak transcription	Fetal Heart	heart
20	chr12:26368600-26372400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:26372000-26373400	Enhancers	Fetal Heart	heart
22	chr12:26372200-26379200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:26372400-26375200	Weak transcription	Fetal Intestine Small	intestine
24	chr12:26372400-26378200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:26372600-26373000	Enhancers	Left Ventricle	heart
26	chr12:26372600-26373200	Enhancers	Right Atrium	heart
27	chr12:26372800-26373000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:26372800-26373000	Enhancers	Psoas Muscle	Psoas
29	chr12:26372800-26373200	Enhancers	Brain Hippocampus Middle	brain
30	chr12:26372800-26373200	Enhancers	Brain Substantia Nigra	brain
31	chr12:26372800-26373600	Enhancers	HMEC	breast
32	chr12:26372800-26374200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:26373000-26373600	Weak transcription	Psoas Muscle	Psoas
34	chr12:26373200-26373600	Weak transcription	Right Atrium	heart
35	chr12:26373200-26377600	Weak transcription	Brain Substantia Nigra	brain
36	chr12:26373200-26378600	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:26373400-26374600	Weak transcription	Fetal Heart	heart
38	chr12:26373600-26373800	Enhancers	Psoas Muscle	Psoas
39	chr12:26373600-26373800	Enhancers	Right Atrium	heart
40	chr12:26373600-26379000	Weak transcription	HMEC	breast
41	chr12:26373800-26375200	Weak transcription	Psoas Muscle	Psoas
42	chr12:26373800-26379000	Weak transcription	Right Atrium	heart
43	chr12:26374200-26378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:26374800-26379200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:26375200-26375400	Enhancers	Fetal Intestine Small	intestine
46	chr12:26375200-26375400	Enhancers	Psoas Muscle	Psoas
47	chr12:26376600-26379200	Weak transcription	Right Ventricle	heart
48	chr12:26377400-26378200	Enhancers	Brain Anterior Caudate	brain
49	chr12:26377600-26378200	Enhancers	Brain Substantia Nigra	brain
50	chr12:26377600-26379000	Enhancers	Brain Cingulate Gyrus	brain

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