Variant report

Variant	esv3402773
Chromosome Location	chr1:174518954-174521502
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	chr1:174521191..174523406-chr1:174525648..174527204,2	MCF-7	breast:
2	chr1:174518114..174520798-chr1:174523440..174525540,2	MCF-7	breast:

Extended variants
information (count: 139 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534824992	chr1:174518954-174518955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555033572	chr1:174518986-174518987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568605321	chr1:174518991-174518992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537651199	chr1:174518996-174518997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192245182	chr1:174519005-174519006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12077529	chr1:174519012-174519013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs546486891	chr1:174519019-174519020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573102510	chr1:174519027-174519028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558609642	chr1:174519054-174519055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12745374	chr1:174519062-174519063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571986665	chr1:174519064-174519065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74126828	chr1:174519066-174519067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561028892	chr1:174519069-174519070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200009716	chr1:174519121-174519122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373913860	chr1:174519123-174519124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543215826	chr1:174519130-174519131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369218156	chr1:174519195-174519196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563101422	chr1:174519242-174519243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34169525	chr1:174519276-174519277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552023082	chr1:174519299-174519300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549538686	chr1:174519351-174519352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145541540	chr1:174519376-174519377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528468484	chr1:174519439-174519440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548443968	chr1:174519446-174519447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183715045	chr1:174519452-174519453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148044255	chr1:174519480-174519481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189303329	chr1:174519511-174519512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540224988	chr1:174519561-174519562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571030724	chr1:174519586-174519587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116697267	chr1:174519609-174519610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553688647	chr1:174519610-174519611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72715237	chr1:174519665-174519666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs141732558	chr1:174519672-174519673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150550400	chr1:174519741-174519742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74225911	chr1:174519824-174519825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543078791	chr1:174519834-174519835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532073439	chr1:174519849-174519850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192656785	chr1:174519868-174519869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576604572	chr1:174519885-174519886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553569054	chr1:174519886-174519887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376178248	chr1:174519890-174519891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371539459	chr1:174519964-174519965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545723493	chr1:174519973-174519974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371607448	chr1:174519980-174519981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559599420	chr1:174519984-174519985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184737809	chr1:174519985-174519986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377370495	chr1:174519995-174519996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189800447	chr1:174520021-174520022	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs182065911	chr1:174520023-174520024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79586083	chr1:174520031-174520032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Autism	19404257	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174512800-174522200	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174514800-174539400	Weak transcription	Ovary	ovary
3	chr1:174515000-174528000	Weak transcription	GM12878-XiMat	blood

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