Variant report

Variant	nsv541533
Chromosome Location	chr12:72752760-72820618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:72768906..72769639-chr2:231606069..231606625,2	MCF-7	breast:
2	chr12:72806680..72809393-chr12:72809767..72812063,2	K562	blood:
3	chr12:72806680..72809393-chr12:72809767..72812063,2	K562	blood:
4	chr12:72818674..72821623-chr17:48943282..48945184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229980	chromatin interactions
ENSG00000141232	chromatin interactions

Extended variants
information (count: 1485 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1485 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566237021	chr12:72753806-72753807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150203411	chr12:72753807-72753808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567989894	chr12:72753812-72753813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73145000	chr12:72753848-72753849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145753758	chr12:72753860-72753861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76542668	chr12:72753861-72753862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545722189	chr12:72753868-72753869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75933181	chr12:72753872-72753873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141676139	chr12:72753919-72753920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543035678	chr12:72753945-72753946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556762854	chr12:72754059-72754060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561228045	chr12:72754087-72754088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191440342	chr12:72754110-72754111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540704234	chr12:72754157-72754158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147067987	chr12:72754176-72754177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569557242	chr12:72754286-72754287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576562260	chr12:72754298-72754299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1348575	chr12:72754310-72754311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377636926	chr12:72754315-72754316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371302990	chr12:72754319-72754320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550899189	chr12:72754330-72754331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538722493	chr12:72754407-72754408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569046593	chr12:72754408-72754409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529897061	chr12:72754419-72754420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78434626	chr12:72754448-72754449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183644305	chr12:72754450-72754451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186466293	chr12:72754461-72754462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11179171	chr12:72754491-72754492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs560416166	chr12:72754500-72754501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192744233	chr12:72754555-72754556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138080405	chr12:72754560-72754561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78730593	chr12:72754561-72754562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557678554	chr12:72754578-72754579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575859007	chr12:72754586-72754587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184731618	chr12:72754593-72754594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146069532	chr12:72754606-72754607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573240678	chr12:72754637-72754638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190114768	chr12:72754667-72754668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113657897	chr12:72754671-72754672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141141290	chr12:72754672-72754673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544083860	chr12:72754678-72754679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11179172	chr12:72754692-72754693	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181880745	chr12:72754776-72754777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201692960	chr12:72754781-72754782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199817531	chr12:72754792-72754793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150725845	chr12:72754805-72754806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559747869	chr12:72754812-72754813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574355632	chr12:72754841-72754842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527275130	chr12:72754844-72754845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139049935	chr12:72754879-72754880	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Williams Syndrome	20824207	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72753800-72755000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:72758200-72758400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:72758400-72758600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:72758400-72758600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:72758400-72758600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:72758600-72762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:72758600-72781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:72761000-72761200	Enhancers	Pancreas	Pancrea
9	chr12:72761200-72771200	Weak transcription	Pancreas	Pancrea
10	chr12:72761400-72765000	Enhancers	Fetal Intestine Large	intestine
11	chr12:72762400-72763000	Enhancers	Fetal Kidney	kidney
12	chr12:72762400-72764800	Enhancers	Fetal Intestine Small	intestine
13	chr12:72762600-72762800	Enhancers	Adipose Nuclei	Adipose
14	chr12:72762600-72763200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:72762600-72763600	Enhancers	Ovary	ovary
16	chr12:72762800-72783600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:72763000-72764000	Weak transcription	Fetal Kidney	kidney
18	chr12:72763000-72764800	Enhancers	Small Intestine	intestine
19	chr12:72763000-72783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:72763200-72764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:72763200-72773400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:72764000-72764200	Enhancers	Fetal Kidney	kidney
23	chr12:72764200-72787000	Weak transcription	Fetal Kidney	kidney
24	chr12:72764600-72764800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:72764800-72787000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:72765000-72782400	Weak transcription	Fetal Intestine Large	intestine
27	chr12:72767400-72782800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:72772400-72773600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:72772400-72774400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:72772600-72773000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:72772600-72773400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:72772600-72773400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:72772600-72773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:72772800-72773600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:72773200-72773600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr12:72773400-72773600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:72773400-72775600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:72775600-72783200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:72776000-72776200	Enhancers	Ovary	ovary
40	chr12:72779200-72781400	Weak transcription	Fetal Brain Male	brain
41	chr12:72780400-72781000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:72781800-72782000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:72781800-72782000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr12:72782000-72783000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:72782800-72783000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:72782800-72783800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:72783000-72783200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:72783000-72783400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr12:72783200-72783400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:72783200-72783400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links