Variant report

Variant	esv3453726
Chromosome Location	chr1:171261094-171261638
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	chr1:171258018..171259639-chr1:171260854..171263633,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571135304	chr1:171261150-171261151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534888691	chr1:171261166-171261167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6660565	chr1:171261193-171261194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
4	rs11803286	chr1:171261215-171261216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376754307	chr1:171261221-171261222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554178756	chr1:171261229-171261230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370686282	chr1:171261236-171261237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535211921	chr1:171261256-171261257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61815434	chr1:171261278-171261279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574868271	chr1:171261293-171261294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539436599	chr1:171261308-171261309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557754295	chr1:171261315-171261316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573121546	chr1:171261486-171261487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540052255	chr1:171261491-171261492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35894276	chr1:171261517-171261518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141964000	chr1:171261546-171261547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561904498	chr1:171261548-171261549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573890727	chr1:171261574-171261575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369328510	chr1:171261596-171261597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542297006	chr1:171261599-171261600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540168439	chr1:171261629-171261630	Weak transcription Enhancers	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171249200-171262000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:171255200-171261200	Enhancers	Fetal Intestine Small	intestine
3	chr1:171256000-171261800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:171261000-171263200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:171261200-171263000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:171261600-171263200	Enhancers	NHDF-Ad	bronchial
7	chr1:171261600-171266400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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