Variant report

Variant	esv8433
Chromosome Location	chr1:210295164-210295860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367929625	chr1:210295189-210295190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372450939	chr1:210295206-210295207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531281644	chr1:210295217-210295218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549678799	chr1:210295219-210295220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567699843	chr1:210295224-210295225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191967333	chr1:210295246-210295247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181615795	chr1:210295383-210295384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571656380	chr1:210295385-210295386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368873291	chr1:210295391-210295392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573892984	chr1:210295566-210295567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539111929	chr1:210295575-210295576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557714880	chr1:210295584-210295585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542837082	chr1:210295616-210295617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184386199	chr1:210295619-210295620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543346075	chr1:210295777-210295778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79779607	chr1:210295805-210295806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573571604	chr1:210295806-210295807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150069093	chr1:210295837-210295838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559262120	chr1:210295841-210295842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210283000-210298000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:210291200-210297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:210291600-210295800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:210291800-210295800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:210291800-210297200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:210291800-210297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:210295600-210296000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:210295600-210298600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:210295800-210296200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:210295800-210298000	Enhancers	HUES64 Cell Line	embryonic stem cell

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