Variant report

Variant	esv3330614
Chromosome Location	chr1:160953378-160955501
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	chr1:160952049..160953710-chr1:160957202..160960136,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114480413	chr1:160953380-160953381	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548539881	chr1:160953449-160953450	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549954860	chr1:160953493-160953494	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs534697738	chr1:160953516-160953517	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73015878	chr1:160953523-160953524	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs59471747	chr1:160953538-160953539	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs397963074	chr1:160953551-160953552	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs61803662	chr1:160953553-160953554	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs190839351	chr1:160953597-160953598	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2988723	chr1:160953668-160953669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs557310577	chr1:160953736-160953737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573958114	chr1:160953827-160953828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182324770	chr1:160953853-160953854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553387582	chr1:160953866-160953867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573298463	chr1:160953872-160953873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545483005	chr1:160953880-160953881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377018085	chr1:160953891-160953892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370871010	chr1:160953893-160953894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534452496	chr1:160953904-160953905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386636084	chr1:160953905-160953906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544445202	chr1:160953909-160953910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145337879	chr1:160953953-160953954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114614805	chr1:160953967-160953968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113025104	chr1:160953995-160953996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548600545	chr1:160954042-160954043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147679381	chr1:160954054-160954055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535783599	chr1:160954066-160954067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553430028	chr1:160954098-160954099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3007153	chr1:160954108-160954109	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs573437486	chr1:160954117-160954118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368662924	chr1:160954127-160954128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7542720	chr1:160954132-160954133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12123794	chr1:160954141-160954142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12123795	chr1:160954144-160954145	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs74579080	chr1:160954151-160954152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12122969	chr1:160954152-160954153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12122970	chr1:160954157-160954158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71090346	chr1:160954160-160954161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71517285	chr1:160954166-160954167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71517286	chr1:160954169-160954170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12123749	chr1:160954177-160954178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12124542	chr1:160954178-160954179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71090347	chr1:160954184-160954185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7540301	chr1:160954195-160954196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7542731	chr1:160954196-160954197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377721941	chr1:160954204-160954205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371392777	chr1:160954205-160954206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375584967	chr1:160954209-160954210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571222841	chr1:160954212-160954213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71517287	chr1:160954221-160954222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160943200-160959800	Weak transcription	Pancreas	Pancrea
2	chr1:160948600-160968000	Weak transcription	Ovary	ovary
3	chr1:160952200-160953800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:160952200-160956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:160952200-160964400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:160952200-160967000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:160952400-160954000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:160952400-160954000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:160952400-160956400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:160952400-160957200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:160953000-160953600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:160953000-160953600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:160953000-160953800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:160953200-160953400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:160953200-160953600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:160953200-160966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:160953400-160953600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:160953600-160955600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:160953600-160955800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:160953600-160956200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:160953800-160968200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:160954000-160956000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:160954000-160956600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:160954200-160959800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:160955400-160956000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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