Variant report

Variant	esv3512629
Chromosome Location	chr12:124237632-124237809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124237598-124237676	Gliobla	brain:	n/a	n/a
2	POLR2A	chr12:124237729-124237736	K562	blood:	n/a	n/a
3	POLR2A	chr12:124237640-124237779	MCF-7	breast:	n/a	n/a
4	POLR2A	chr12:124237526-124237879	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:124237506-124237905	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:124237648-124237706	K562	blood:	n/a	n/a
7	POLR2A	chr12:124237556-124237757	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124195749..124198082-chr12:124236149..124239807,3	MCF-7	breast:

Variant related genes	Relation type
ATP6V0A2	TF binding region
ENSG00000185344	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12581755	chr12:124237686-124237687	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370830440	chr12:124237689-124237690	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs199723387	chr12:124237698-124237699	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11057345	chr12:124237711-124237712	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs10846552	chr12:124237729-124237730	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183923303	chr12:124237766-124237767	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372222998	chr12:124237769-124237770	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569321621	chr12:124237777-124237778	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs530787336	chr12:124237806-124237807	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124202200-124242600	Strong transcription	Fetal Stomach	stomach
3	chr12:124202600-124245200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:124202600-124245200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:124203400-124239800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:124203600-124242400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:124203600-124242400	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:124203600-124244600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:124203600-124246000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:124203800-124240000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:124203800-124245000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:124203800-124248000	Strong transcription	Dnd41	blood
13	chr12:124204000-124239800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:124205000-124242400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:124206000-124241800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:124208800-124244800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:124209200-124242600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:124209800-124239600	Strong transcription	Brain Germinal Matrix	brain
19	chr12:124213000-124243400	Strong transcription	Fetal Intestine Small	intestine
20	chr12:124215400-124242600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:124215400-124244800	Strong transcription	Liver	Liver
22	chr12:124215800-124240000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr12:124215800-124242400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr12:124217200-124240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:124217400-124239800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:124221800-124246200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:124223200-124240000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:124223400-124240000	Strong transcription	Fetal Intestine Large	intestine
29	chr12:124224200-124238800	Weak transcription	Fetal Kidney	kidney
30	chr12:124224200-124246400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:124226200-124239600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:124229400-124240000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:124229800-124246400	Weak transcription	Psoas Muscle	Psoas
34	chr12:124230200-124246000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:124230800-124240000	Strong transcription	Fetal Brain Female	brain
36	chr12:124231600-124239800	Strong transcription	Brain Anterior Caudate	brain
37	chr12:124231600-124239800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:124231600-124240000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:124231600-124243400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:124231800-124240000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:124232000-124246400	Weak transcription	NHDF-Ad	bronchial
42	chr12:124232400-124239800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:124232400-124241800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:124232600-124239000	Strong transcription	Fetal Thymus	thymus
45	chr12:124232600-124239800	Strong transcription	Primary T cells from cord blood	blood
46	chr12:124232800-124239800	Strong transcription	HSMMtube	muscle
47	chr12:124232800-124240200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:124233000-124239600	Strong transcription	Placenta	Placenta
49	chr12:124233000-124243400	Strong transcription	Left Ventricle	heart
50	chr12:124233200-124242400	Strong transcription	Spleen	Spleen

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