Variant report

Variant	esv1815828
Chromosome Location	chr12:32533730-32537488
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32535707..32537411-chr12:32551451..32553487,2	MCF-7	breast:
2	chr12:32519761..32521890-chr12:32532145..32533928,2	K562	blood:
3	chr12:32534459..32536924-chr12:32539453..32542230,3	K562	blood:
4	chr12:32530472..32534353-chr12:32830607..32833580,3	K562	blood:
5	chr12:32534948..32536924-chr12:32539453..32542087,2	K562	blood:
6	chr12:32533618..32535853-chr12:32541374..32543080,2	MCF-7	breast:
7	chr12:32534188..32536796-chr12:32561079..32564068,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BICD1-1	chr12:32534220-32536567	NONHSAT027609

No data

Variant related genes	Relation type
ENSG00000087470	chromatin interactions
ENSG00000139132	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10844194	chr12:32533730-32533731	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554767577	chr12:32533742-32533743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574833998	chr12:32533755-32533756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10600850	chr12:32533776-32533777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368584884	chr12:32533778-32533779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192567857	chr12:32533796-32533797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568827228	chr12:32533825-32533826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563717202	chr12:32533887-32533888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558109420	chr12:32533926-32533927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112295853	chr12:32533996-32533997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541478065	chr12:32534059-32534060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532524502	chr12:32534106-32534107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7958506	chr12:32534131-32534132	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs185627055	chr12:32534159-32534160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548926195	chr12:32534163-32534164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528684033	chr12:32534210-32534211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1064102	chr12:32534333-32534334	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs376466133	chr12:32534385-32534386	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs548725356	chr12:32534423-32534424	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs574579745	chr12:32534427-32534428	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs369766833	chr12:32534495-32534496	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs147697884	chr12:32534608-32534609	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs372077630	chr12:32534617-32534618	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs556729398	chr12:32534687-32534688	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs549444472	chr12:32534771-32534772	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs541571964	chr12:32534830-32534831	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs569345610	chr12:32534895-32534896	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs7138575	chr12:32534921-32534922	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs76845282	chr12:32534960-32534961	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs140814625	chr12:32534968-32534969	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs1872829	chr12:32535100-32535101	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150149626	chr12:32535108-32535109	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs554787527	chr12:32535162-32535163	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574541226	chr12:32535165-32535166	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs545871144	chr12:32535190-32535191	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs190106304	chr12:32535195-32535196	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs138639082	chr12:32535218-32535219	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs577334808	chr12:32535245-32535246	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs10565801	chr12:32535246-32535247	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs199824175	chr12:32535248-32535249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs181872289	chr12:32535285-32535286	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs149336244	chr12:32535287-32535288	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs562290637	chr12:32535410-32535411	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs573522447	chr12:32535411-32535412	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs10565802	chr12:32535476-32535477	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs78165422	chr12:32535543-32535544	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs59770950	chr12:32535586-32535587	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs7963039	chr12:32535664-32535665	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530996062	chr12:32535754-32535755	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs551228445	chr12:32535755-32535756	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32494200-32533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:32522600-32535800	Weak transcription	Fetal Brain Female	brain
3	chr12:32530600-32534000	Weak transcription	HSMM	muscle
4	chr12:32532600-32543400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:32536400-32536600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:32536600-32537600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:32536600-32538200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:32537400-32538600	Enhancers	Monocytes-CD14+_RO01746	blood

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