Variant report

Variant	esv3361289
Chromosome Location	chr12:32404235-32406183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32404264..32406924-chr12:32407131..32410038,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564307218	chr12:32404235-32404236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557526273	chr12:32404267-32404268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533444273	chr12:32404268-32404269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35740672	chr12:32404269-32404270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547163056	chr12:32404280-32404281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566965043	chr12:32404318-32404319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148061257	chr12:32404327-32404328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374235179	chr12:32404336-32404337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11430617	chr12:32404426-32404427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397793752	chr12:32404427-32404428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201607706	chr12:32404428-32404429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549380474	chr12:32404433-32404434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572869220	chr12:32404491-32404492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141607338	chr12:32404511-32404512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77887243	chr12:32404537-32404538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557906590	chr12:32404597-32404598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181700376	chr12:32404614-32404615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539135964	chr12:32404628-32404629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534519981	chr12:32404642-32404643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552755619	chr12:32404680-32404681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78536978	chr12:32404741-32404742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76182298	chr12:32404749-32404750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35163924	chr12:32404774-32404775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147052179	chr12:32404783-32404784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555360659	chr12:32404857-32404858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77523990	chr12:32404872-32404873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73082230	chr12:32404873-32404874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564271982	chr12:32404889-32404890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200835973	chr12:32404914-32404915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533118680	chr12:32404922-32404923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373070554	chr12:32404923-32404924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368936538	chr12:32404930-32404931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1239622	chr12:32404938-32404939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368084239	chr12:32404947-32404948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534325127	chr12:32404951-32404952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs60607700	chr12:32404954-32404955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372193081	chr12:32404956-32404957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377733058	chr12:32404962-32404963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371117264	chr12:32404963-32404964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374198549	chr12:32404967-32404968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190174125	chr12:32404968-32404969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12299157	chr12:32404969-32404970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377619818	chr12:32404970-32404971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57155044	chr12:32404988-32404989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12366965	chr12:32404989-32404990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56821303	chr12:32404993-32404994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57154202	chr12:32404995-32404996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7975793	chr12:32404996-32404997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1239623	chr12:32405011-32405012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370872753	chr12:32405015-32405016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
2	chr12:32371200-32406800	Weak transcription	Primary T cells from cord blood	blood
3	chr12:32390800-32405400	Weak transcription	Ovary	ovary
4	chr12:32390800-32410600	Weak transcription	Primary B cells from cord blood	blood
5	chr12:32391200-32405200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:32391200-32408000	Weak transcription	Fetal Brain Female	brain
7	chr12:32391200-32409200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:32391600-32408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:32393600-32410400	Weak transcription	NHLF	lung
10	chr12:32393600-32423800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:32394000-32424200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:32394200-32405600	Weak transcription	A549	lung
13	chr12:32394400-32423800	Weak transcription	NH-A	brain
14	chr12:32394600-32414400	Weak transcription	HUVEC	blood vessel
15	chr12:32397400-32405400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:32400400-32405400	Weak transcription	Dnd41	blood
17	chr12:32401600-32410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:32401800-32405600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:32401800-32409200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:32402000-32405400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:32402000-32408400	Weak transcription	Fetal Intestine Small	intestine
22	chr12:32402000-32409400	Weak transcription	Aorta	Aorta
23	chr12:32402000-32417800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:32402000-32424000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:32402400-32405200	Weak transcription	GM12878-XiMat	blood
26	chr12:32402400-32423600	Weak transcription	Osteobl	bone
27	chr12:32402600-32405600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:32403000-32417800	Weak transcription	Brain Angular Gyrus	brain
29	chr12:32403000-32417800	Weak transcription	Fetal Stomach	stomach
30	chr12:32403000-32424400	Weak transcription	HSMMtube	muscle
31	chr12:32403200-32405200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:32403200-32405400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:32403200-32406600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:32403200-32407200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:32403200-32407200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:32403200-32410800	Weak transcription	NHEK	skin
37	chr12:32403200-32411800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:32403200-32413400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:32403200-32417600	Weak transcription	NHDF-Ad	bronchial
40	chr12:32403200-32424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:32403200-32424400	Weak transcription	HSMM	muscle
42	chr12:32403400-32404400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:32403400-32404600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:32403400-32404600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:32403400-32405200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:32403400-32405200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:32403400-32406000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:32403400-32406600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:32403400-32408000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:32403400-32411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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