Variant report

Variant	esv3379921
Chromosome Location	chr12:67668058-67668338
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	chr12:67665523..67668331-chr12:67690936..67692642,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115257375	chr12:67668058-67668059	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548841543	chr12:67668077-67668078	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs1152902	chr12:67668097-67668098	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs138262663	chr12:67668143-67668144	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557746583	chr12:67668166-67668167	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs12301230	chr12:67668198-67668199	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185408588	chr12:67668230-67668231	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189768112	chr12:67668231-67668232	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183526344	chr12:67668270-67668271	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187862682	chr12:67668299-67668300	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12301290	chr12:67668307-67668308	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
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
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
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
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Lung adenocarcinoma	17982442	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664400-67669000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:67664400-67669200	Weak transcription	Gastric	stomach
3	chr12:67664400-67669400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:67664600-67684000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
7	chr12:67665200-67668600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:67665200-67669000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:67665200-67669400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:67665200-67670600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:67665200-67671200	Weak transcription	Right Atrium	heart
12	chr12:67665200-67671800	Weak transcription	Esophagus	oesophagus
13	chr12:67665200-67673000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:67665200-67675400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:67665200-67675800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:67665200-67675800	Weak transcription	Placenta	Placenta
17	chr12:67665200-67675800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:67665200-67676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:67665200-67678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
22	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:67665400-67668200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:67665400-67669600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:67665400-67670200	Weak transcription	HSMMtube	muscle
27	chr12:67665400-67671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:67665600-67668200	Enhancers	Primary T cells from cord blood	blood
30	chr12:67665600-67668200	Enhancers	NHEK	skin
31	chr12:67665600-67669800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:67665600-67672000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:67665600-67672000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr12:67665600-67673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:67665600-67674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:67665800-67668400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:67666000-67668600	Weak transcription	NHDF-Ad	bronchial
38	chr12:67666000-67670000	Weak transcription	Fetal Stomach	stomach
39	chr12:67666000-67670200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:67666000-67671000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:67666000-67671200	Weak transcription	Fetal Brain Female	brain
42	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
43	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:67666200-67668200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:67666200-67668200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:67666200-67668200	Weak transcription	Osteobl	bone
47	chr12:67666200-67668400	Weak transcription	NHLF	lung
48	chr12:67666400-67669000	Genic enhancers	Dnd41	blood
49	chr12:67666400-67669400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:67666400-67670800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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