Variant report

Variant	esv3321791
Chromosome Location	chr1:172593229-172594677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172592662..172594827-chr1:172598145..172599883,2	K562	blood:
2	chr1:172591067..172593571-chr1:172597520..172599763,2	MCF-7	breast:
3	chr1:172593455..172595873-chr1:172596177..172598039,2	MCF-7	breast:
4	chr1:172592662..172594714-chr1:172598383..172600821,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569928033	chr1:172593237-172593238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186405311	chr1:172593250-172593251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73034088	chr1:172593315-172593316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372776295	chr1:172593361-172593362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190884794	chr1:172593465-172593466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36129276	chr1:172593467-172593468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534729388	chr1:172593468-172593469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71111031	chr1:172593470-172593471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559797774	chr1:172593499-172593500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573150273	chr1:172593541-172593542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544990225	chr1:172593570-172593571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200112694	chr1:172593614-172593615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57252578	chr1:172593615-172593616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145116024	chr1:172593616-172593617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397802891	chr1:172593619-172593620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374818230	chr1:172593620-172593621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376926394	chr1:172593624-172593625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553069139	chr1:172593633-172593634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566019185	chr1:172593707-172593708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572711726	chr1:172593854-172593855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376608533	chr1:172593983-172593984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535039808	chr1:172594084-172594085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182599310	chr1:172594123-172594124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369532473	chr1:172594258-172594259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186285045	chr1:172594291-172594292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543711208	chr1:172594332-172594333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370140130	chr1:172594336-172594337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138723802	chr1:172594381-172594382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556945532	chr1:172594398-172594399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547521256	chr1:172594422-172594423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559400528	chr1:172594430-172594431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529892635	chr1:172594496-172594497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191008797	chr1:172594528-172594529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530887737	chr1:172594580-172594581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183495992	chr1:172594589-172594590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12123755	chr1:172594618-172594619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs141737090	chr1:172594644-172594645	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs34716467	chr1:172594661-172594662	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs71819068	chr1:172594664-172594665	Weak transcription Enhancers Flanking Active TSS	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172566600-172595800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:172589600-172598600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:172592400-172594200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:172594200-172594600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:172594200-172595400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:172594600-172595000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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