Variant report

Variant	esv2403049
Chromosome Location	chr12:524282-524680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 86 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376579455	chr12:524291-524292	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563522560	chr12:524325-524326	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553121739	chr12:524339-524340	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574773825	chr12:524351-524352	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34080070	chr12:524369-524370	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192992284	chr12:524397-524398	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537501195	chr12:524421-524422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531182938	chr12:524451-524452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546440105	chr12:524459-524460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11062847	chr12:524465-524466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201801403	chr12:524469-524470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11062848	chr12:524470-524471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71858282	chr12:524473-524474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528228750	chr12:524476-524477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200552832	chr12:524479-524480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142409038	chr12:524487-524488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71435005	chr12:524490-524491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561572748	chr12:524493-524494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201621737	chr12:524494-524495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528869579	chr12:524502-524503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200999052	chr12:524515-524516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199564610	chr12:524519-524520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570968100	chr12:524520-524521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75192844	chr12:524522-524523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111753533	chr12:524528-524529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7972886	chr12:524540-524541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200403651	chr12:524544-524545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7961734	chr12:524554-524555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11062849	chr12:524559-524560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149502822	chr12:524565-524566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202148421	chr12:524569-524570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566310883	chr12:524574-524575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112837157	chr12:524578-524579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71045056	chr12:524579-524580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200152509	chr12:524581-524582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534853124	chr12:524583-524584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199796347	chr12:524593-524594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145993047	chr12:524595-524596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202186462	chr12:524598-524599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200277330	chr12:524599-524600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199712503	chr12:524600-524601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200793103	chr12:524601-524602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201890534	chr12:524602-524603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113412839	chr12:524603-524604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138618571	chr12:524613-524614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201103301	chr12:524614-524615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200621213	chr12:524622-524623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576021754	chr12:524666-524667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546503095	chr12:524669-524670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564695493	chr12:524670-524671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pleomorphic liposarcoma	18784837	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:511600-544600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:512000-545800	Weak transcription	HMEC	breast
3	chr12:512000-549600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:512200-540200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:512200-557800	Weak transcription	Fetal Heart	heart
6	chr12:512600-528600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:512600-528800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:512600-552200	Weak transcription	Fetal Brain Male	brain
9	chr12:513600-529000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:513600-529800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:514200-528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:514200-528800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:514400-528800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:514800-528600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:518000-524600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:518400-528800	Strong transcription	Dnd41	blood
17	chr12:518600-526600	Strong transcription	Fetal Intestine Small	intestine
18	chr12:518600-528400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:518800-529800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:519400-524400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:519400-528600	Strong transcription	Fetal Stomach	stomach
22	chr12:519400-529800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:519600-524400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:519600-524400	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:519600-524400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:519600-524600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:519600-528600	Strong transcription	Thymus	Thymus
28	chr12:519800-524400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:519800-528600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr12:519800-528600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:519800-528600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:519800-528800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:519800-528800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:520000-527800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:520400-528600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:520600-524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:520600-524400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:520600-525600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:520800-524400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:520800-524400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:520800-524400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr12:520800-524400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:520800-524400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:520800-524400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:520800-524400	Strong transcription	Adipose Nuclei	Adipose
46	chr12:520800-524400	Strong transcription	Liver	Liver
47	chr12:520800-525000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:520800-528600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr12:520800-528600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:520800-528600	Strong transcription	A549	lung

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