Variant report

Variant	esv33004
Chromosome Location	chr1:171255144-171255466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 92 )

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	rs187868688	chr1:171255172-171255173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs41263700	chr1:171255184-171255185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577563253	chr1:171255231-171255232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573816219	chr1:171255233-171255234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573330336	chr1:171255242-171255243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12059179	chr1:171255346-171255347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs562145273	chr1:171255390-171255391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529263736	chr1:171255452-171255453	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141369816	chr1:171255457-171255458	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562845910	chr1:171255458-171255459	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533309230	chr1:171255460-171255461	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Intellectual disability	22102821	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
Retinoblastoma	19183342	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
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171237800-171255200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:171241600-171255200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:171249000-171255200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:171249200-171262000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:171252000-171258800	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:171253600-171256400	Enhancers	Fetal Intestine Large	intestine
7	chr1:171253800-171260400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:171255200-171255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:171255200-171256000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:171255200-171256000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:171255200-171256200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:171255200-171256400	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:171255200-171256400	Enhancers	NHEK	skin
14	chr1:171255200-171256600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:171255200-171261200	Enhancers	Fetal Intestine Small	intestine
16	chr1:171255400-171255800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:171255400-171256000	Enhancers	GM12878-XiMat	blood
18	chr1:171255400-171256400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:171255400-171256400	Enhancers	Monocytes-CD14+_RO01746	blood

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