Variant report

Variant	esv3419146
Chromosome Location	chr1:181013910-181014482
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:181003253..181008679-chr1:181011469..181014538,5	MCF-7	breast:
2	chr1:180990073..180993369-chr1:181008815..181014232,9	MCF-7	breast:
3	chr1:180999745..181016101-chr1:181055432..181063450,33	K562	blood:
4	chr1:181004788..181008643-chr1:181010792..181015908,7	K562	blood:
5	chr1:181013057..181015311-chr1:181085662..181087249,2	MCF-7	breast:
6	chr1:181013036..181016290-chr1:181056443..181059535,5	MCF-7	breast:
7	chr1:181012572..181014580-chr1:181108514..181110085,2	K562	blood:
8	chr1:181011084..181016329-chr1:181056547..181060434,6	K562	blood:
9	chr1:181007094..181009350-chr1:181012392..181014502,3	MCF-7	breast:
10	chr1:181010770..181016050-chr1:181055138..181060794,9	MCF-7	breast:
11	chr1:181013434..181015271-chr1:181059973..181061827,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162783	chromatin interactions
ENSG00000272198	chromatin interactions
ENSG00000135823	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546238585	chr1:181014001-181014002	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs564527665	chr1:181014035-181014036	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs531978606	chr1:181014060-181014061	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs543644976	chr1:181014154-181014155	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs191812465	chr1:181014173-181014174	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs570271728	chr1:181014183-181014184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs3892173	chr1:181014239-181014240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547802609	chr1:181014242-181014243	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552892497	chr1:181014286-181014287	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112247220	chr1:181014405-181014406	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:181004000-181015600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:181004000-181025400	Weak transcription	Fetal Stomach	stomach
3	chr1:181004000-181025800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:181004000-181026200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:181005600-181025800	Weak transcription	Right Ventricle	heart
6	chr1:181005600-181026000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:181005600-181026400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:181005600-181028200	Weak transcription	Gastric	stomach
9	chr1:181005600-181028600	Weak transcription	Ovary	ovary
10	chr1:181007200-181026600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:181008600-181020800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:181008600-181031400	Weak transcription	NHLF	lung
13	chr1:181008800-181022800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:181009600-181014600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:181010600-181014200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:181010800-181024600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:181011000-181018400	Weak transcription	HSMM	muscle
18	chr1:181011000-181025600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:181011000-181031400	Weak transcription	Osteobl	bone
20	chr1:181011200-181019200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:181011200-181024600	Weak transcription	Aorta	Aorta
22	chr1:181011800-181014000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:181011800-181014200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:181011800-181014200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:181011800-181014200	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:181011800-181014400	Enhancers	Liver	Liver
27	chr1:181011800-181015000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:181012000-181014000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:181012000-181014000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:181012000-181014000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:181012000-181014000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:181012000-181014200	Enhancers	HMEC	breast
33	chr1:181012000-181014400	Enhancers	Stomach Mucosa	stomach
34	chr1:181012000-181014600	Enhancers	Primary T cells from cord blood	blood
35	chr1:181012000-181014800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:181012200-181014000	Enhancers	Placenta	Placenta
37	chr1:181012200-181014000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr1:181012200-181014000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:181012200-181014000	Genic enhancers	Thymus	Thymus
40	chr1:181012200-181014600	Enhancers	Fetal Thymus	thymus
41	chr1:181012200-181014800	Enhancers	Esophagus	oesophagus
42	chr1:181012400-181016200	Strong transcription	Spleen	Spleen
43	chr1:181012600-181014200	Enhancers	Dnd41	blood
44	chr1:181012600-181020200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:181012600-181024400	Weak transcription	Adipose Nuclei	Adipose
46	chr1:181012800-181014000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:181012800-181014200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:181012800-181016400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:181012800-181016600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:181012800-181028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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