Variant report

Variant	esv3451611
Chromosome Location	chr12:75849720-75853658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182883626	chr12:75849721-75849722	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs377642837	chr12:75849739-75849740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555683357	chr12:75849775-75849776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572096801	chr12:75849857-75849858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188193992	chr12:75849879-75849880	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs193167046	chr12:75849893-75849894	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184620913	chr12:75849898-75849899	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544019616	chr12:75849918-75849919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536922789	chr12:75849946-75849947	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529432246	chr12:75849968-75849969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549296017	chr12:75849974-75849975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188351391	chr12:75850017-75850018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34969863	chr12:75850049-75850050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528508757	chr12:75850063-75850064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557190706	chr12:75850072-75850073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140169641	chr12:75850082-75850083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17115048	chr12:75850085-75850086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143635764	chr12:75850087-75850088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146298615	chr12:75850099-75850100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559190703	chr12:75850125-75850126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569899258	chr12:75850167-75850168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113195409	chr12:75850211-75850212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139468337	chr12:75850223-75850224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191341682	chr12:75850262-75850263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs142884244	chr12:75850273-75850274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557443623	chr12:75850296-75850297	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577074497	chr12:75850534-75850535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs543188573	chr12:75850569-75850570	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4882628	chr12:75850591-75850592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs151054540	chr12:75850617-75850618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs371271660	chr12:75850629-75850630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183925258	chr12:75850719-75850720	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189433103	chr12:75850835-75850836	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs140849609	chr12:75851029-75851030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528713410	chr12:75851068-75851069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551774471	chr12:75851073-75851074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565100311	chr12:75851081-75851082	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs530916417	chr12:75851130-75851131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181769934	chr12:75851139-75851140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs149713807	chr12:75851185-75851186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185719160	chr12:75851189-75851190	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs567756854	chr12:75851233-75851234	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs4882629	chr12:75851260-75851261	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs35260380	chr12:75851371-75851372	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs189853969	chr12:75851380-75851381	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77665432	chr12:75851406-75851407	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547424808	chr12:75851413-75851414	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565980122	chr12:75851542-75851543	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563899739	chr12:75851558-75851559	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145674648	chr12:75851563-75851564	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Neurodevelopmental disorder	22521361	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75847000-75851200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:75847800-75854200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:75848600-75850600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:75848600-75852000	Enhancers	Dnd41	blood
5	chr12:75848800-75851800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:75849000-75851600	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:75849200-75850000	Enhancers	Placenta	Placenta
8	chr12:75849400-75850000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:75849400-75850000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:75849400-75850400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:75849600-75849800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:75849600-75850000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:75849600-75852000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:75849600-75852200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:75849600-75854800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:75849600-75854800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:75849800-75851800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:75849800-75851800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:75849800-75852400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:75850000-75850200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:75850000-75850200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:75850000-75850400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:75850000-75851200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:75850000-75851400	Weak transcription	Placenta	Placenta
25	chr12:75850200-75850600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:75850200-75850600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:75850200-75852000	Enhancers	Primary T cells from cord blood	blood
28	chr12:75850200-75852000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:75850200-75852400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:75850200-75854400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:75850400-75850600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:75850400-75851400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:75850400-75851800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:75850600-75851000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:75850600-75851000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:75850600-75851400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:75850600-75851400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:75851000-75851400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr12:75851000-75852000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:75851200-75851400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:75851200-75851600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:75851200-75852200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:75851400-75851800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:75851400-75851800	Enhancers	Placenta	Placenta
45	chr12:75851400-75852000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr12:75851400-75852000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:75851400-75852200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr12:75851400-75867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:75851800-75853000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:75851800-75853200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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