Variant report

Variant	esv3448198
Chromosome Location	chr12:56609270-56609781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56609773-56609847	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:56609610-56609764	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:56609142-56609488	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56606354..56610392-chr12:56613995..56616440,4	MCF-7	breast:
2	chr12:56609459..56612925-chr12:56614221..56618096,8	MCF-7	breast:
3	chr12:56509108..56511988-chr12:56607579..56610265,3	MCF-7	breast:
4	chr12:56606878..56611530-chr12:56612338..56617285,8	K562	blood:
5	chr12:56581127..56584994-chr12:56605345..56610385,5	MCF-7	breast:

No data

Variant related genes	Relation type
RNF41	TF binding region
ENSG00000135482	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000139613	chromatin interactions
ENSG00000258199	chromatin interactions
ENSG00000181852	chromatin interactions
ENSG00000139579	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188125070	chr12:56609308-56609309	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs148002714	chr12:56609314-56609315	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs11837267	chr12:56609332-56609333	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182405870	chr12:56609334-56609335	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs369178567	chr12:56609366-56609367	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs560843807	chr12:56609395-56609396	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs63580964	chr12:56609502-56609503	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs57776746	chr12:56609507-56609508	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs576805734	chr12:56609521-56609522	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs58103466	chr12:56609522-56609523	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs575761624	chr12:56609563-56609564	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs187067030	chr12:56609631-56609632	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs144601937	chr12:56609635-56609636	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs532271712	chr12:56609686-56609687	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Thoracic aortic aneurysm	21092924	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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56585000-56614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56592600-56613600	Weak transcription	Right Atrium	heart
3	chr12:56597800-56610600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:56597800-56610600	Strong transcription	Fetal Lung	lung
5	chr12:56597800-56611600	Strong transcription	Primary T cells from cord blood	blood
6	chr12:56597800-56611600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:56597800-56611800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:56597800-56611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:56597800-56611800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:56597800-56611800	Strong transcription	Fetal Muscle Leg	muscle
11	chr12:56597800-56611800	Strong transcription	Fetal Thymus	thymus
12	chr12:56597800-56612000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:56598000-56610400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:56598000-56610600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:56598000-56610600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:56598000-56610600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:56598000-56610600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:56598000-56610600	Strong transcription	Brain Hippocampus Middle	brain
19	chr12:56598000-56610600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr12:56598000-56610600	Strong transcription	Spleen	Spleen
21	chr12:56598000-56611000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:56598000-56611000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr12:56598000-56611600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:56598000-56611600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:56598000-56611600	Strong transcription	Fetal Brain Female	brain
26	chr12:56598000-56611600	Strong transcription	Fetal Intestine Large	intestine
27	chr12:56598000-56611600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:56598000-56611800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr12:56598000-56613600	Strong transcription	Fetal Stomach	stomach
30	chr12:56598200-56609800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:56598200-56610400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:56598200-56610600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr12:56598200-56610600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:56598200-56610600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:56598200-56610600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:56598200-56610600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:56598200-56611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:56598200-56611800	Strong transcription	Placenta	Placenta
39	chr12:56598200-56611800	Strong transcription	Thymus	Thymus
40	chr12:56598200-56613800	Strong transcription	Fetal Intestine Small	intestine
41	chr12:56598400-56610600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr12:56598400-56610600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:56598400-56610600	Strong transcription	HSMMtube	muscle
44	chr12:56598400-56610800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:56598400-56611400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:56598400-56611800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:56598400-56611800	Strong transcription	Brain Germinal Matrix	brain
48	chr12:56598600-56610000	Strong transcription	Brain Cingulate Gyrus	brain
49	chr12:56598600-56610600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:56598800-56610600	Strong transcription	Right Ventricle	heart

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