Variant report

Variant	esv3375005
Chromosome Location	chr1:169730301-169730861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552770649	chr1:169730340-169730341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535367414	chr1:169730344-169730345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550831383	chr1:169730361-169730362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146119102	chr1:169730405-169730406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12738242	chr1:169730413-169730414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12738244	chr1:169730417-169730418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538807637	chr1:169730454-169730455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569374303	chr1:169730471-169730472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4656717	chr1:169730487-169730488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376721054	chr1:169730494-169730495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539559121	chr1:169730525-169730526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12027610	chr1:169730551-169730552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12027611	chr1:169730556-169730557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12130550	chr1:169730572-169730573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568187916	chr1:169730582-169730583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7512064	chr1:169730586-169730587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553354074	chr1:169730629-169730630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386636660	chr1:169730647-169730648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs68040534	chr1:169730660-169730661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4405181	chr1:169730661-169730662	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs576132437	chr1:169730667-169730668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556354736	chr1:169730671-169730672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577770038	chr1:169730682-169730683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111899452	chr1:169730716-169730717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12034880	chr1:169730724-169730725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574881220	chr1:169730800-169730801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Glioblastoma multiforme	21080181	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
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
Breast cancer	21509527	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169728000-169732800	Weak transcription	Adipose Nuclei	Adipose
2	chr1:169728400-169731800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:169730800-169732600	Enhancers	Sigmoid Colon	Sigmoid Colon

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