Variant report

Variant	esv3449607
Chromosome Location	chr12:64811837-64812705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:64797595-64812982	K562	blood:	n/a	n/a
2	RFX5	chr12:64812272-64812503	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64804231..64806720-chr12:64811625..64814288,2	MCF-7	breast:
2	chr12:64812157..64815119-chr12:64844083..64845847,2	K562	blood:
3	chr12:64811364..64814549-chr12:64829971..64833473,4	K562	blood:
4	chr12:64810412..64813320-chr12:64844705..64846531,3	MCF-7	breast:
5	chr12:64811036..64814900-chr12:64817095..64820147,3	MCF-7	breast:
6	chr12:64808338..64813675-chr12:64816125..64822168,7	MCF-7	breast:

No data

Variant related genes	Relation type
XPOT	TF binding region
ENSG00000184575	chromatin interactions
ENSG00000183735	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181425665	chr12:64811917-64811918	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs74100222	chr12:64811918-64811919	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185715245	chr12:64811930-64811931	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536082674	chr12:64811951-64811952	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555520686	chr12:64811969-64811970	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs568187099	chr12:64811995-64811996	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs148756175	chr12:64812013-64812014	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs117497387	chr12:64812117-64812118	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs61931549	chr12:64812197-64812198	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188121452	chr12:64812200-64812201	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs539842629	chr12:64812220-64812221	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs7132741	chr12:64812265-64812266	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs117452393	chr12:64812290-64812291	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs529157536	chr12:64812482-64812483	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs556871671	chr12:64812487-64812488	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs542869836	chr12:64812603-64812604	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs562689868	chr12:64812606-64812607	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs370525928	chr12:64812609-64812610	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs200291547	chr12:64812671-64812672	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs372746587	chr12:64812700-64812701	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Glioma	20126413	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64799200-64821200	Weak transcription	Stomach Mucosa	stomach
2	chr12:64799400-64844600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:64799800-64839600	Weak transcription	Fetal Heart	heart
4	chr12:64800200-64819800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:64800600-64844000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:64800800-64842400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:64801600-64818800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:64801600-64843600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:64802400-64843000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:64802400-64844000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:64802600-64817000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:64802600-64844000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:64802800-64842800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:64802800-64843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:64802800-64843200	Strong transcription	Dnd41	blood
16	chr12:64802800-64844000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:64803000-64812400	Strong transcription	K562	blood
18	chr12:64803000-64844200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:64803400-64819800	Strong transcription	HMEC	breast
20	chr12:64803600-64821200	Strong transcription	HepG2	liver
21	chr12:64803600-64823400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:64803600-64836200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:64803600-64837400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:64803600-64837600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:64803600-64842000	Strong transcription	NHDF-Ad	bronchial
26	chr12:64803600-64842200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:64803600-64842200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:64803600-64842200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:64803600-64842200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:64803600-64842400	Strong transcription	Hela-S3	cervix
31	chr12:64803600-64843000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:64803600-64843000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:64803600-64843400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:64803600-64843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:64803800-64812600	Strong transcription	HUVEC	blood vessel
36	chr12:64803800-64828000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:64803800-64829600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:64803800-64831200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:64803800-64834400	Strong transcription	Brain Anterior Caudate	brain
40	chr12:64803800-64836600	Strong transcription	Fetal Thymus	thymus
41	chr12:64803800-64837200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:64803800-64837400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:64803800-64837800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:64803800-64839400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:64803800-64842000	Strong transcription	Fetal Intestine Large	intestine
46	chr12:64803800-64842200	Strong transcription	NH-A	brain
47	chr12:64803800-64843000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:64803800-64844200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:64803800-64844800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:64804000-64816600	Strong transcription	A549	lung

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