Variant report

Variant	esv3323223
Chromosome Location	chr1:171977229-171979302
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	chr1:171972282..171973897-chr1:171974999..171977877,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187166295	chr1:171977247-171977248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138732938	chr1:171977258-171977259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566206380	chr1:171977272-171977273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34083893	chr1:171977273-171977274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201372357	chr1:171977276-171977277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397771671	chr1:171977282-171977283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200066065	chr1:171977283-171977284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1073940	chr1:171977284-171977285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528745749	chr1:171977320-171977321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547312290	chr1:171977325-171977326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568362048	chr1:171977330-171977331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116537162	chr1:171977335-171977336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115961508	chr1:171977338-171977339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572813359	chr1:171977376-171977377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12059659	chr1:171977379-171977380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539612492	chr1:171977413-171977414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561537879	chr1:171977430-171977431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141180991	chr1:171977450-171977451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191552108	chr1:171977454-171977455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146956120	chr1:171977474-171977475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573509673	chr1:171977559-171977560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542569898	chr1:171977622-171977623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116308501	chr1:171977632-171977633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562409972	chr1:171977634-171977635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577297537	chr1:171977648-171977649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147991701	chr1:171977688-171977689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141621659	chr1:171977703-171977704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59449917	chr1:171977723-171977724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397708306	chr1:171977736-171977737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60406569	chr1:171977884-171977885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149685778	chr1:171977931-171977932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533456227	chr1:171977973-171977974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546932951	chr1:171977996-171977997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7542408	chr1:171978011-171978012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529240563	chr1:171978016-171978017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550977247	chr1:171978018-171978019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569299066	chr1:171978045-171978046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112880052	chr1:171978056-171978057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547162702	chr1:171978134-171978135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59520750	chr1:171978148-171978149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145447505	chr1:171978149-171978150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397947309	chr1:171978150-171978151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12088011	chr1:171978182-171978183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12088014	chr1:171978190-171978191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12088059	chr1:171978219-171978220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12086984	chr1:171978220-171978221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566646980	chr1:171978239-171978240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12088065	chr1:171978250-171978251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12086989	chr1:171978251-171978252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535678312	chr1:171978263-171978264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171973600-171979000	Weak transcription	NH-A	brain
2	chr1:171976600-171977600	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:171976800-171979000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:171977600-171977800	Enhancers	Brain Hippocampus Middle	brain
5	chr1:171979000-171980200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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