Variant report

Variant	nsv1050699
Chromosome Location	chr12:87061020-87137487
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:87071567..87073233-chr12:87073299..87075080,2	MCF-7	breast:
2	chr12:87132936..87135299-chr12:87145575..87148336,2	K562	blood:
3	chr12:87071567..87073233-chr12:87073299..87075080,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-1	chr12:87120982-87121018	ENSG00000258185
2	lnc-MGAT4C-1	chr12:87120986-87121018	NONHSAT029762
3	lnc-MGAT4C-1	chr12:87120986-87121018	ENSG00000258185

No data

Extended variants
information (count: 1368 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1368 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368693327	chr12:87061062-87061063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373255904	chr12:87061157-87061158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186579904	chr12:87061161-87061162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191069936	chr12:87061180-87061181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577419386	chr12:87061183-87061184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541534827	chr12:87061191-87061192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559731098	chr12:87061196-87061197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574719987	chr12:87061224-87061225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78891626	chr12:87061287-87061288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563449963	chr12:87061329-87061330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531805844	chr12:87061355-87061356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530674464	chr12:87061433-87061434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141728146	chr12:87061436-87061437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550081148	chr12:87061465-87061466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563934201	chr12:87061487-87061488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375181720	chr12:87061488-87061489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147094222	chr12:87061504-87061505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369495778	chr12:87061802-87061803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568078172	chr12:87061831-87061832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535128083	chr12:87061844-87061845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183823037	chr12:87061919-87061920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372961668	chr12:87061923-87061924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368943216	chr12:87061950-87061951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568618917	chr12:87061988-87061989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537694964	chr12:87062062-87062063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559241601	chr12:87062102-87062103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188678139	chr12:87062204-87062205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377301778	chr12:87062275-87062276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373608021	chr12:87062336-87062337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138704595	chr12:87062349-87062350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553213451	chr12:87062352-87062353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140199034	chr12:87062368-87062369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77044536	chr12:87062510-87062511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373402470	chr12:87062539-87062540	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541866819	chr12:87062566-87062567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs376449015	chr12:87062573-87062574	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs548262903	chr12:87062587-87062588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575192012	chr12:87062678-87062679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs545680472	chr12:87062679-87062680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs563977701	chr12:87062703-87062704	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73394995	chr12:87062852-87062853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369996242	chr12:87062938-87062939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566345812	chr12:87062941-87062942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11833815	chr12:87062989-87062990	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs150335776	chr12:87063080-87063081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192849998	chr12:87063100-87063101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184949046	chr12:87063101-87063102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568868030	chr12:87063110-87063111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537782783	chr12:87063111-87063112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7968612	chr12:87063113-87063114	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87054800-87062200	Weak transcription	HMEC	breast
2	chr12:87057200-87062200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:87057400-87062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:87057600-87062000	Weak transcription	NHEK	skin
5	chr12:87058000-87062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:87059800-87061200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:87059800-87061200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:87059800-87061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:87060000-87061600	Enhancers	A549	lung
10	chr12:87061000-87061200	Enhancers	HSMM	muscle
11	chr12:87061000-87061400	Enhancers	Fetal Brain Male	brain
12	chr12:87061200-87064400	Weak transcription	Fetal Lung	lung
13	chr12:87062000-87062400	Enhancers	NHEK	skin
14	chr12:87062000-87063600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:87062000-87063600	Enhancers	Esophagus	oesophagus
16	chr12:87062200-87063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:87062200-87063600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:87062200-87063600	Enhancers	HMEC	breast
19	chr12:87062200-87063800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:87062400-87062600	Enhancers	Spleen	Spleen
21	chr12:87062400-87062800	Flanking Active TSS	NHEK	skin
22	chr12:87062400-87063600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:87062600-87063600	Enhancers	Lung	lung
24	chr12:87062800-87063800	Enhancers	NHEK	skin
25	chr12:87063200-87063400	Weak transcription	Spleen	Spleen
26	chr12:87064400-87065600	Enhancers	Fetal Lung	lung
27	chr12:87064600-87065400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:87064600-87065800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:87076800-87077200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:87077000-87077800	Enhancers	Osteobl	bone
31	chr12:87077000-87078000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:87077200-87077600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:87077200-87077800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:87077400-87077800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:87077400-87077800	Enhancers	HMEC	breast
36	chr12:87077400-87078000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:87077400-87078000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:87077600-87077800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:87083800-87084400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:87084200-87084400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:87084400-87084600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:87085600-87086000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:87085800-87086200	Enhancers	NHEK	skin
44	chr12:87086000-87091400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:87091400-87093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:87091600-87092000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:87091600-87093400	Enhancers	NHDF-Ad	bronchial
48	chr12:87091800-87092200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:87091800-87092200	Enhancers	Osteobl	bone
50	chr12:87091800-87092600	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links