Variant report

Variant	esv2636908
Chromosome Location	chr1:172827734-172829200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148922206	chr1:172827763-172827764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574666619	chr1:172827781-172827782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116728646	chr1:172827862-172827863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76822974	chr1:172828024-172828025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181371283	chr1:172828095-172828096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546324172	chr1:172828118-172828119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573591843	chr1:172828127-172828128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184930017	chr1:172828128-172828129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573283488	chr1:172828205-172828206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540484687	chr1:172828211-172828212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371492253	chr1:172828223-172828224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12131049	chr1:172828254-172828255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529064386	chr1:172828261-172828262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550479969	chr1:172828270-172828271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188126526	chr1:172828310-172828311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368213931	chr1:172828338-172828339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532878090	chr1:172828339-172828340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551466865	chr1:172828359-172828360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74985558	chr1:172828390-172828391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10912482	chr1:172828413-172828414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181022459	chr1:172828442-172828443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578217653	chr1:172828458-172828459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17371133	chr1:172828480-172828481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs151018581	chr1:172828491-172828492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369881670	chr1:172828517-172828518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535770906	chr1:172828546-172828547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35559844	chr1:172828576-172828577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367741381	chr1:172828597-172828598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186180277	chr1:172828609-172828610	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs192446264	chr1:172828650-172828651	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs539507078	chr1:172828743-172828744	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs142262833	chr1:172828782-172828783	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573246689	chr1:172828832-172828833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540647000	chr1:172828837-172828838	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562093305	chr1:172828894-172828895	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573981654	chr1:172828895-172828896	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544536031	chr1:172828913-172828914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562504718	chr1:172828993-172828994	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs183303611	chr1:172829000-172829001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551163611	chr1:172829009-172829010	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187052853	chr1:172829016-172829017	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146042637	chr1:172829064-172829065	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548545945	chr1:172829090-172829091	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138779412	chr1:172829136-172829137	Weak transcription Flanking Active TSS 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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172820600-172840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:172826600-172830400	Weak transcription	Right Atrium	heart
3	chr1:172828400-172828600	Enhancers	A549	lung
4	chr1:172828400-172828600	Enhancers	HUVEC	blood vessel
5	chr1:172828400-172828800	Enhancers	HMEC	breast
6	chr1:172828400-172828800	Enhancers	HSMM	muscle
7	chr1:172828400-172828800	Enhancers	NHDF-Ad	bronchial
8	chr1:172828600-172828800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:172828600-172829000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:172828600-172829000	Enhancers	NH-A	brain
11	chr1:172828600-172829000	Enhancers	Osteobl	bone
12	chr1:172828600-172829200	Enhancers	NHEK	skin
13	chr1:172828600-172829400	Flanking Active TSS	HUVEC	blood vessel
14	chr1:172828600-172840600	Weak transcription	A549	lung
15	chr1:172828800-172840200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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