Variant report

Variant	nsv559691
Chromosome Location	chr12:87064588-87132840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:87071567..87073233-chr12:87073299..87075080,2	MCF-7	breast:
2	chr12:87071567..87073233-chr12:87073299..87075080,2	MCF-7	breast:

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

Extended variants
information (count: 1256 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1256 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2406250	chr12:87064588-87064589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562169528	chr12:87064595-87064596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138769765	chr12:87064602-87064603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181514325	chr12:87064607-87064608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185795674	chr12:87064683-87064684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141705795	chr12:87064698-87064699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576357979	chr12:87064781-87064782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551409813	chr12:87064790-87064791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116857230	chr12:87064876-87064877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566851014	chr12:87064877-87064878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544082681	chr12:87064917-87064918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555613980	chr12:87064942-87064943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190214954	chr12:87064943-87064944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3937525	chr12:87064946-87064947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181188746	chr12:87064949-87064950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368399748	chr12:87064958-87064959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2016230	chr12:87065042-87065043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527304167	chr12:87065071-87065072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545112526	chr12:87065074-87065075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148374922	chr12:87065112-87065113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559925635	chr12:87065124-87065125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs994288	chr12:87065157-87065158	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113860997	chr12:87065190-87065191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34825835	chr12:87065291-87065292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78466897	chr12:87065408-87065409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562423880	chr12:87065449-87065450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59556648	chr12:87065483-87065484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569620400	chr12:87065485-87065486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142870945	chr12:87065486-87065487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185226956	chr12:87065518-87065519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562741538	chr12:87065519-87065520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533292806	chr12:87065562-87065563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369107791	chr12:87065576-87065577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111559812	chr12:87065584-87065585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375371871	chr12:87065590-87065591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537793542	chr12:87065614-87065615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190617291	chr12:87065619-87065620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549067363	chr12:87065705-87065706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149114876	chr12:87076881-87076882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546580840	chr12:87076892-87076893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143107818	chr12:87076956-87076957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571655633	chr12:87076990-87076991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368599676	chr12:87076991-87076992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184846574	chr12:87076996-87076997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530414906	chr12:87077013-87077014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201844713	chr12:87077042-87077043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111847424	chr12:87077076-87077077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570217954	chr12:87077122-87077123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537178738	chr12:87077132-87077133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61949561	chr12:87077184-87077185	Enhancers	n/a	n/a	Overlapped CNVs	n/a

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:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87064400-87065600	Enhancers	Fetal Lung	lung
2	chr12:87064600-87065400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:87064600-87065800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:87076800-87077200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:87077000-87077800	Enhancers	Osteobl	bone
6	chr12:87077000-87078000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:87077200-87077600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:87077200-87077800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:87077400-87077800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:87077400-87077800	Enhancers	HMEC	breast
11	chr12:87077400-87078000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:87077400-87078000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:87077600-87077800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:87083800-87084400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:87084200-87084400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:87084400-87084600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:87085600-87086000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:87085800-87086200	Enhancers	NHEK	skin
19	chr12:87086000-87091400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:87091400-87093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:87091600-87092000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:87091600-87093400	Enhancers	NHDF-Ad	bronchial
23	chr12:87091800-87092200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:87091800-87092200	Enhancers	Osteobl	bone
25	chr12:87091800-87092600	Enhancers	Fetal Lung	lung
26	chr12:87092000-87092400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:87092000-87092600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:87092000-87092800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:87092000-87093400	Enhancers	Fetal Brain Male	brain
30	chr12:87092200-87092600	Enhancers	HSMM	muscle
31	chr12:87092200-87092800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:87092200-87092800	Enhancers	Adipose Nuclei	Adipose
33	chr12:87092200-87092800	Flanking Active TSS	Osteobl	bone
34	chr12:87092400-87092800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:87092600-87092800	Enhancers	HSMMtube	muscle
36	chr12:87092600-87093000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:87092800-87093000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:87092800-87093200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:87092800-87093200	Enhancers	Osteobl	bone
40	chr12:87101600-87106600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:87102200-87102600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:87102400-87102600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:87102600-87104000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:87102600-87105600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:87104000-87104200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:87104000-87104200	Enhancers	HMEC	breast
47	chr12:87104000-87104400	ZNF genes & repeats	A549	lung
48	chr12:87104200-87104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:87104200-87105200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:87104200-87106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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