Variant report

Variant	nsv983447
Chromosome Location	chr12:117454899-117457318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117454524..117457416-chr12:117594664..117596732,2	K562	blood:
2	chr12:117455374..117458365-chr12:117461422..117463402,2	MCF-7	breast:
3	chr12:117447389..117449402-chr12:117456865..117458856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135108	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190574184	chr12:117454906-117454907	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542717422	chr12:117454953-117454954	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555770352	chr12:117454989-117454990	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576044828	chr12:117455044-117455045	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182009350	chr12:117455110-117455111	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186086311	chr12:117455135-117455136	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572422513	chr12:117455252-117455253	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533123070	chr12:117455266-117455267	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189237263	chr12:117455299-117455300	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61019842	chr12:117455344-117455345	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560098376	chr12:117455364-117455365	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2393113	chr12:117455365-117455366	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181111889	chr12:117455392-117455393	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543541650	chr12:117455456-117455457	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146753683	chr12:117455483-117455484	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531314929	chr12:117455594-117455595	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551116273	chr12:117455612-117455613	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563849244	chr12:117455618-117455619	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369201654	chr12:117455637-117455638	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140373227	chr12:117455670-117455671	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550895917	chr12:117455671-117455672	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544262620	chr12:117455684-117455685	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534237552	chr12:117455690-117455691	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554297194	chr12:117455698-117455699	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185711170	chr12:117455732-117455733	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187982941	chr12:117455751-117455752	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61193113	chr12:117455792-117455793	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556224214	chr12:117455793-117455794	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576158072	chr12:117455849-117455850	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545383079	chr12:117455881-117455882	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145245164	chr12:117455923-117455924	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577828352	chr12:117455934-117455935	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561928548	chr12:117455978-117455979	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs137867581	chr12:117455989-117455990	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560360052	chr12:117456005-117456006	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529115412	chr12:117456085-117456086	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542876071	chr12:117456095-117456096	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140785802	chr12:117456108-117456109	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531477877	chr12:117456240-117456241	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551319363	chr12:117456249-117456250	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564732552	chr12:117456296-117456297	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190668077	chr12:117456383-117456384	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182908250	chr12:117456405-117456406	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147371907	chr12:117456408-117456409	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10641949	chr12:117456411-117456412	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34604500	chr12:117456412-117456413	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150110507	chr12:117456438-117456439	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536427721	chr12:117456457-117456458	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138288044	chr12:117456473-117456474	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552807382	chr12:117456547-117456548	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117387800-117463600	Weak transcription	HMEC	breast
2	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
3	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117443800-117461600	Weak transcription	Colonic Mucosa	Colon
5	chr12:117444000-117462800	Weak transcription	K562	blood
6	chr12:117448400-117462000	Weak transcription	Hela-S3	cervix
7	chr12:117450200-117455600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:117450200-117455800	Weak transcription	Fetal Brain Male	brain
9	chr12:117450200-117461800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:117450400-117461800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:117450800-117461200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:117450800-117461600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:117451000-117455000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:117451400-117455000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:117451600-117457000	Strong transcription	Primary T cells from cord blood	blood
16	chr12:117452400-117455200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:117452400-117460200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:117452400-117461800	Weak transcription	Brain Angular Gyrus	brain
19	chr12:117452400-117463400	Strong transcription	Fetal Intestine Large	intestine
20	chr12:117452400-117463800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:117452400-117469000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:117452600-117455000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:117452600-117457200	Weak transcription	Spleen	Spleen
24	chr12:117452600-117458000	Strong transcription	Adipose Nuclei	Adipose
25	chr12:117452600-117458000	Weak transcription	Fetal Heart	heart
26	chr12:117452600-117461200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:117452600-117463600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:117452800-117455600	Weak transcription	Left Ventricle	heart
29	chr12:117452800-117462400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:117452800-117463200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:117452800-117463200	Strong transcription	A549	lung
32	chr12:117452800-117465200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:117452800-117468400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:117452800-117470200	Weak transcription	HUVEC	blood vessel
35	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:117453000-117456600	Strong transcription	Aorta	Aorta
37	chr12:117453000-117459000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:117453200-117461600	Weak transcription	Brain Substantia Nigra	brain
39	chr12:117453200-117461800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:117453200-117461800	Weak transcription	Stomach Mucosa	stomach
41	chr12:117453200-117463600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:117453400-117455400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:117453400-117457200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:117453400-117457200	Weak transcription	Lung	lung
45	chr12:117453400-117457600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:117453400-117457600	Weak transcription	HepG2	liver
47	chr12:117453400-117461400	Weak transcription	Right Ventricle	heart
48	chr12:117453600-117455600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:117453600-117455600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:117453600-117455600	Weak transcription	Esophagus	oesophagus

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