Variant report

Variant	nsv525458
Chromosome Location	chr12:7623724-7631883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:7624288-7624370	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:7624384-7624387	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:7629242-7629368	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr12:7629237-7629414	H1-hESC	embryonic stem cell:	n/a	n/a
5	RXRA	chr12:7629225-7629427	HepG2	liver:	n/a	n/a
6	SP1	chr12:7629150-7629403	HepG2	liver:	n/a	n/a
7	ZBTB33	chr12:7629215-7629404	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APOBEC1-2	chr12:7623570-7623993	NONHSAT026254
2	lnc-APOBEC1-2	chr12:7625704-7625775	NONHSAT026254
3	lnc-APOBEC1-2	chr12:7623767-7623993	NONHSAT026255
4	lnc-APOBEC1-2	chr12:7624442-7624532	NONHSAT026255

No data

Variant related genes	Relation type
CD163	TF binding region

Extended variants
information (count: 194 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11054072	chr12:7623724-7623725	Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371295883	chr12:7623918-7623919	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs149270511	chr12:7623987-7623988	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs11054074	chr12:7624073-7624074	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs117582548	chr12:7624113-7624114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75499443	chr12:7624126-7624127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78945489	chr12:7624225-7624226	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181321544	chr12:7624236-7624237	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564747579	chr12:7624240-7624241	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144496744	chr12:7624352-7624353	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11614441	chr12:7624431-7624432	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118048423	chr12:7624457-7624458	Active TSS ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs148391942	chr12:7624502-7624503	Active TSS ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs542473938	chr12:7624506-7624507	Active TSS ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs185192990	chr12:7624565-7624566	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560135591	chr12:7624731-7624732	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12317102	chr12:7624732-7624733	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77556472	chr12:7624814-7624815	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189848190	chr12:7624938-7624939	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140587974	chr12:7624966-7624967	Active TSS ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117692263	chr12:7625014-7625015	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144554558	chr12:7625146-7625147	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201216062	chr12:7625154-7625155	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10128828	chr12:7625174-7625175	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553449742	chr12:7625192-7625193	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183246867	chr12:7625202-7625203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7974714	chr12:7625218-7625219	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535855216	chr12:7625252-7625253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10129005	chr12:7625285-7625286	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187345858	chr12:7625351-7625352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7974968	chr12:7625417-7625418	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575911859	chr12:7625526-7625527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192117834	chr12:7625543-7625544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151193862	chr12:7625550-7625551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59019776	chr12:7625666-7625667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75172954	chr12:7625773-7625774	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs78018172	chr12:7625793-7625794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79506522	chr12:7625801-7625802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377565263	chr12:7625806-7625807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78832283	chr12:7625822-7625823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59202306	chr12:7625854-7625855	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs80141471	chr12:7625903-7625904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183573754	chr12:7625924-7625925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75077356	chr12:7625932-7625933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76650649	chr12:7625940-7625941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573708987	chr12:7625957-7625958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542255843	chr12:7626034-7626035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139172876	chr12:7626152-7626153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188442275	chr12:7626238-7626239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149997891	chr12:7626278-7626279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7621800-7626600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:7622200-7637600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:7622600-7623800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:7623800-7624200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:7624200-7625000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:7624200-7625200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr12:7625200-7630200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:7626600-7630000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:7630000-7649400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:7630200-7649200	Strong transcription	Primary monocytes fromperipheralblood	blood

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