Variant report

Variant	esv3359361
Chromosome Location	chr12:40476096-40477745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40468895..40470933-chr12:40476626..40479292,2	K562	blood:
2	chr12:40476970..40478917-chr12:40480066..40482046,2	MCF-7	breast:
3	chr12:40468130..40470395-chr12:40476626..40479537,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549929362	chr12:40476220-40476221	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571786196	chr12:40476223-40476224	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141715529	chr12:40476239-40476240	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551226533	chr12:40476243-40476244	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2624248	chr12:40476247-40476248	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527577062	chr12:40476275-40476276	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12317645	chr12:40476276-40476277	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142883873	chr12:40476292-40476293	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567110856	chr12:40476321-40476322	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17461082	chr12:40476438-40476439	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552521816	chr12:40476445-40476446	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139848744	chr12:40476473-40476474	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571771347	chr12:40476508-40476509	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557160224	chr12:40476515-40476516	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374586660	chr12:40476546-40476547	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17489529	chr12:40476576-40476577	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11175106	chr12:40476614-40476615	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561036588	chr12:40476697-40476698	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573059056	chr12:40476721-40476722	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540655133	chr12:40476731-40476732	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17458396	chr12:40476759-40476760	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532690762	chr12:40476786-40476787	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551088810	chr12:40476788-40476789	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376017224	chr12:40476824-40476825	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17458403	chr12:40476876-40476877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530238123	chr12:40476892-40476893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34372091	chr12:40476921-40476922	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186354563	chr12:40476959-40476960	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149987418	chr12:40476966-40476967	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555003561	chr12:40476987-40476988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552136642	chr12:40477013-40477014	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534198935	chr12:40477029-40477030	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2624247	chr12:40477047-40477048	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570900516	chr12:40477056-40477057	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376946438	chr12:40477072-40477073	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77320086	chr12:40477126-40477127	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556784018	chr12:40477141-40477142	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575258837	chr12:40477172-40477173	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368054840	chr12:40477178-40477179	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570582079	chr12:40477182-40477183	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28365171	chr12:40477202-40477203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192361735	chr12:40477259-40477260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573204220	chr12:40477268-40477269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540519643	chr12:40477273-40477274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75199793	chr12:40477280-40477281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145225507	chr12:40477290-40477291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544552111	chr12:40477401-40477402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530179879	chr12:40477422-40477423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17489542	chr12:40477474-40477475	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560720715	chr12:40477479-40477480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40453800-40487400	Weak transcription	Left Ventricle	heart
2	chr12:40464400-40493200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40471400-40496800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:40474000-40476600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:40474200-40476200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:40474400-40497000	Weak transcription	Ovary	ovary
8	chr12:40474800-40480600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:40475400-40483000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:40475400-40497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:40475600-40476400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:40475600-40476800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr12:40475600-40476800	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr12:40475600-40496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:40475800-40476200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr12:40475800-40476600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:40475800-40476600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:40475800-40476600	ZNF genes & repeats	Aorta	Aorta
19	chr12:40475800-40476600	ZNF genes & repeats	Fetal Stomach	stomach
20	chr12:40475800-40476800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:40475800-40479400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:40475800-40480000	Weak transcription	Right Ventricle	heart
23	chr12:40476000-40479400	Weak transcription	Liver	Liver
24	chr12:40476000-40480200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:40476200-40476400	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:40476200-40476600	ZNF genes & repeats	Lung	lung
27	chr12:40476200-40485400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:40476400-40476600	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr12:40476400-40476800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:40476400-40478400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:40476400-40486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:40476400-40492400	Weak transcription	K562	blood
33	chr12:40476400-40497400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:40476600-40476800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:40476600-40477000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:40476600-40477000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr12:40476600-40477800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:40476600-40480400	Weak transcription	Aorta	Aorta
39	chr12:40476600-40484600	Weak transcription	Fetal Intestine Large	intestine
40	chr12:40476600-40492600	Weak transcription	Lung	lung
41	chr12:40476600-40498400	Weak transcription	Fetal Stomach	stomach
42	chr12:40476800-40479000	Weak transcription	Fetal Intestine Small	intestine
43	chr12:40476800-40480400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:40476800-40480600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:40476800-40481400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:40476800-40497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:40477000-40477200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:40477000-40480600	Weak transcription	HepG2	liver
49	chr12:40477000-40492000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:40477000-40497000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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