Variant report

Variant	esv3443011
Chromosome Location	chr12:40746285-40748433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374379653	chr12:40746286-40746287	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs367941524	chr12:40746287-40746288	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368208833	chr12:40746306-40746307	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546289734	chr12:40746323-40746324	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564277971	chr12:40746329-40746330	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs531781652	chr12:40746330-40746331	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs113158396	chr12:40746338-40746339	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs566517281	chr12:40746350-40746351	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371804959	chr12:40746410-40746411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140899349	chr12:40746417-40746418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11176155	chr12:40746455-40746456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376720916	chr12:40746470-40746471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527347973	chr12:40746475-40746476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10878409	chr12:40746509-40746510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552295602	chr12:40746536-40746537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570342842	chr12:40746561-40746562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372218906	chr12:40746570-40746571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573656108	chr12:40746571-40746572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556018093	chr12:40746672-40746673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10878410	chr12:40746676-40746677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138382676	chr12:40746729-40746730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553511809	chr12:40746743-40746744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572211021	chr12:40746744-40746745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373318301	chr12:40746781-40746782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556859128	chr12:40746790-40746791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12811206	chr12:40746791-40746792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201867965	chr12:40746822-40746823	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs12812820	chr12:40746824-40746825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs12811374	chr12:40746831-40746832	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558274202	chr12:40746835-40746836	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576333949	chr12:40746839-40746840	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10878411	chr12:40746849-40746850	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12812837	chr12:40746861-40746862	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12811403	chr12:40746865-40746866	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs11176160	chr12:40746867-40746868	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529568912	chr12:40746872-40746873	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs541747961	chr12:40746879-40746880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs11176161	chr12:40746882-40746883	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs533615600	chr12:40746888-40746889	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs551970665	chr12:40746904-40746905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570555907	chr12:40746908-40746909	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs10878412	chr12:40746913-40746914	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549332749	chr12:40746925-40746926	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191816496	chr12:40746930-40746931	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535320576	chr12:40746935-40746936	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547336134	chr12:40746954-40746955	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs10878413	chr12:40746960-40746961	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs77153590	chr12:40746983-40746984	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74464070	chr12:40746985-40746986	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183544696	chr12:40746988-40746989	Weak transcription Strong transcription ZNF genes & repeats	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:40674400-40760400	Weak transcription	Lung	lung
4	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
8	chr12:40722800-40755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:40724800-40751000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
11	chr12:40726200-40766600	Weak transcription	A549	lung
12	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:40729800-40756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:40730000-40747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
16	chr12:40732000-40757200	Weak transcription	Right Ventricle	heart
17	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:40733200-40757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:40734600-40754200	Weak transcription	Esophagus	oesophagus
21	chr12:40735600-40747000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:40737000-40751600	Weak transcription	Left Ventricle	heart
23	chr12:40737200-40754000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:40742800-40746800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:40744400-40754200	Weak transcription	Aorta	Aorta
26	chr12:40745600-40746400	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr12:40746000-40746400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:40746000-40746600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:40746000-40760600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:40746200-40747200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:40746200-40748000	Weak transcription	Liver	Liver
32	chr12:40746200-40748200	Weak transcription	Adipose Nuclei	Adipose
33	chr12:40746200-40750800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:40746200-40754200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:40746200-40757200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:40746200-40760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:40746200-40760400	Weak transcription	Ovary	ovary
38	chr12:40746400-40747800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:40746400-40747800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:40746400-40748200	Weak transcription	Primary B cells from cord blood	blood
41	chr12:40746800-40747200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:40747000-40748000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
43	chr12:40747200-40759000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:40747200-40762400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:40747800-40765000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr12:40747800-40765200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:40748000-40750000	Strong transcription	Liver	Liver
48	chr12:40748000-40754200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:40748200-40748400	Strong transcription	Adipose Nuclei	Adipose
50	chr12:40748200-40748600	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links