Variant report

Variant	nsv8918
Chromosome Location	chr12:11337700-11339877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:11339371-11339420	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11339792-11339842	AG09319	gingival:	n/a
2	chr12:11339792-11339842	GM19239	blood:	n/a
3	chr12:11339792-11339842	A549	lung:	n/a
4	chr12:11339792-11339842	AG10803	skin:	n/a
5	chr12:11339792-11339842	HNPCEpiC	eye:	n/a
6	chr12:11339792-11339842	H1-hESC	embryonic stem cell:	embryo
7	chr12:11339792-11339842	ECC-1	luminal epithelium:	n/a
8	chr12:11339792-11339842	Jurkat	blood:	n/a
9	chr12:11339792-11339842	HCM	heart:	n/a
10	chr12:11339792-11339842	AG04449	skin:	fetal
11	chr12:11339792-11339842	RPTEC	kidney:	n/a
12	chr12:11339792-11339842	AoSMC	blood vessel:	n/a
13	chr12:11339792-11339842	HL-60	blood:	n/a
14	chr12:11339792-11339842	GM12891	blood:	n/a
15	chr12:11339792-11339842	HRE	kidney:	n/a
16	chr12:11339792-11339842	HEK293	kidney:	embryo
17	chr12:11339792-11339842	HMEC	breast:	n/a
18	chr12:11339792-11339842	PFSK-1	brain:	n/a
19	chr12:11339792-11339842	IMR90	lung:	fetal
20	chr12:11339792-11339842	HEEpiC	esophagus:	n/a
21	chr12:11339792-11339842	HCT-116	colon:	n/a
22	chr12:11339792-11339842	PrEC	prostate:	n/a
23	chr12:11339792-11339842	SK-N-SH_RA	brain:	n/a
24	chr12:11339792-11339842	BE2_C	brain:	n/a
25	chr12:11339792-11339842	GM06990	blood:	n/a
26	chr12:11339792-11339842	HUVEC	blood vessel:	n/a
27	chr12:11339792-11339842	AG09309	skin:	n/a
28	chr12:11339792-11339842	HIPEpiC	eye:	n/a
29	chr12:11339792-11339842	MCF10A-Er-Src	breast:	n/a
30	chr12:11339792-11339842	HepG2	liver:	n/a
31	chr12:11339792-11339842	U87	brain:	n/a
32	chr12:11339792-11339842	BJ	skin:	n/a
33	chr12:11339792-11339842	HAEpiC	amniotic membrane:	n/a
34	chr12:11339792-11339842	SKMC	muscle:	n/a
35	chr12:11339792-11339842	MCF-7	breast:	n/a
36	chr12:11339792-11339842	T-47D	breast:	n/a
37	chr12:11339792-11339842	GM12878	blood:	n/a
38	chr12:11339792-11339842	NHBE	bronchial:	n/a
39	chr12:11339792-11339842	PANC-1	pancreas:	n/a
40	chr12:11339792-11339842	Caco-2	colon:	n/a
41	chr12:11339792-11339842	ovcar-3	ovarian:	n/a
42	chr12:11339792-11339842	LNCaP	prostate:	n/a
43	chr12:11339792-11339842	SK-N-MC	brain:	n/a
44	chr12:11339792-11339842	HRPEpiC	eye:	n/a
45	chr12:11339792-11339842	HCF	heart:	n/a
46	chr12:11339792-11339842	AG04450	lung:	fetal
47	chr12:11339792-11339842	HCPEpiC	choroid plexus:	n/a
48	chr12:11339792-11339842	K562	blood:	n/a
49	chr12:11339792-11339842	ProgFib	skin:	n/a
50	chr12:11339792-11339842	NHDF-neo	bronchial:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11331591..11333492-chr12:11338114..11339808,2	K562	blood:
2	chr12:11328652..11331846-chr12:11337152..11339281,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRH2-5	chr12:11338660-11339511	NONHSAT026929

No data

Variant related genes	Relation type
TAS2R42	TF binding region
TAS2R67P	TF binding region
TAS2R42	CpG island
TAS2R67P	CpG island
ENSG00000256629	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563223704	chr12:11337714-11337715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577018511	chr12:11337730-11337731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531997916	chr12:11337745-11337746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551963173	chr12:11337782-11337783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373419604	chr12:11337783-11337784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144291997	chr12:11337825-11337826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377563113	chr12:11337863-11337864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540763294	chr12:11337885-11337886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576012974	chr12:11337970-11337971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199744159	chr12:11337975-11337976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180794039	chr12:11337996-11337997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547606628	chr12:11338027-11338028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567410648	chr12:11338031-11338032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536291503	chr12:11338086-11338087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549716348	chr12:11338104-11338105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185823482	chr12:11338117-11338118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs367626364	chr12:11338137-11338138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76847702	chr12:11338147-11338148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs66920676	chr12:11338153-11338154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs67198379	chr12:11338157-11338158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs67039859	chr12:11338160-11338161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192397270	chr12:11338199-11338200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572175035	chr12:11338216-11338217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534800961	chr12:11338233-11338234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554747435	chr12:11338297-11338298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183226155	chr12:11338327-11338328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543447009	chr12:11338376-11338377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559585301	chr12:11338403-11338404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569181576	chr12:11338405-11338406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563236095	chr12:11338432-11338433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186141338	chr12:11338433-11338434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148026402	chr12:11338437-11338438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141742758	chr12:11338455-11338456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199861447	chr12:11338515-11338516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78910943	chr12:11338516-11338517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111961186	chr12:11338532-11338533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527917710	chr12:11338535-11338536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1650016	chr12:11338539-11338540	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs1669409	chr12:11338555-11338556	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs1669410	chr12:11338559-11338560	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs201094378	chr12:11338560-11338561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200042188	chr12:11338574-11338575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs1817103	chr12:11338577-11338578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1817104	chr12:11338589-11338590	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs139960283	chr12:11338603-11338604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs386760366	chr12:11338613-11338614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1669411	chr12:11338614-11338615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
48	rs144512624	chr12:11338632-11338633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148423170	chr12:11338633-11338634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142534531	chr12:11338654-11338655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11325600-11338200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:11326200-11338600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:11326400-11355600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:11328000-11338600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:11328800-11340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:11330600-11365400	Weak transcription	Primary T cells from cord blood	blood
7	chr12:11338600-11339000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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