Variant report

Variant	esv3453129
Chromosome Location	chr1:175070329-175078527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175077823..175079670-chr1:175081548..175083475,2	K562	blood:
2	chr1:174738634..174740164-chr1:175067816..175070617,2	K562	blood:
3	chr1:175077823..175080085-chr1:175081548..175084338,3	K562	blood:
4	chr1:175069058..175070740-chr1:175082430..175084040,2	K562	blood:
5	chr1:175077506..175079418-chr1:175085244..175087503,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568222479	chr1:175070331-175070332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375070890	chr1:175070341-175070342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537253436	chr1:175070352-175070353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367756878	chr1:175070365-175070366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183044637	chr1:175070366-175070367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186277805	chr1:175070411-175070412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553028992	chr1:175070412-175070413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572924291	chr1:175070432-175070433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541789758	chr1:175070438-175070439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191541115	chr1:175070440-175070441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575803700	chr1:175070441-175070442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544878655	chr1:175070442-175070443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564556911	chr1:175070450-175070451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533546578	chr1:175070455-175070456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183396822	chr1:175070465-175070466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546539478	chr1:175070473-175070474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528101737	chr1:175070481-175070482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548160848	chr1:175070514-175070515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367693775	chr1:175070515-175070516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376006627	chr1:175070516-175070517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58899065	chr1:175070518-175070519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568043455	chr1:175070529-175070530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12744451	chr1:175070534-175070535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550837936	chr1:175070543-175070544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570583070	chr1:175070567-175070568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192756024	chr1:175070570-175070571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552119044	chr1:175070571-175070572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553069930	chr1:175070582-175070583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566587791	chr1:175070619-175070620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61827442	chr1:175070660-175070661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56288321	chr1:175070665-175070666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529798981	chr1:175070670-175070671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575577156	chr1:175070735-175070736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544604750	chr1:175070736-175070737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558399311	chr1:175070748-175070749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578225445	chr1:175070751-175070752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61827443	chr1:175070822-175070823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540789475	chr1:175070877-175070878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201980299	chr1:175070901-175070902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559493309	chr1:175070912-175070913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528241159	chr1:175070948-175070949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541935758	chr1:175071003-175071004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561564467	chr1:175071018-175071019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554686431	chr1:175071026-175071027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574321726	chr1:175071035-175071036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12083913	chr1:175071049-175071050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7526747	chr1:175071061-175071062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7526749	chr1:175071068-175071069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532973290	chr1:175071101-175071102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114874239	chr1:175071102-175071103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175062400-175071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175071400-175071600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:175075800-175076200	Active TSS	K562	blood

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