Variant report

Variant	nsv548060
Chromosome Location	chr1:161429813-161442860
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	chr1:161441922..161445226-chr1:161466780..161470505,3	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75373735	chr1:161429813-161429814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569993424	chr1:161429818-161429819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536144600	chr1:161429825-161429826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556055144	chr1:161429840-161429841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572791076	chr1:161429845-161429846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535202320	chr1:161429855-161429856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558411202	chr1:161429870-161429871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576853999	chr1:161429923-161429924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545618458	chr1:161429934-161429935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61802784	chr1:161429961-161429962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556120033	chr1:161430033-161430034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575899370	chr1:161430051-161430052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2019268	chr1:161430086-161430087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541820843	chr1:161430152-161430153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561615755	chr1:161430229-161430230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368830081	chr1:161441967-161441968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145248480	chr1:161442073-161442074	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs527605101	chr1:161442136-161442137	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs540807775	chr1:161442214-161442215	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372696359	chr1:161442218-161442219	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58203078	chr1:161442223-161442224	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71639065	chr1:161442230-161442231	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373366080	chr1:161442232-161442233	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60804112	chr1:161442266-161442267	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57636276	chr1:161442270-161442271	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138641357	chr1:161442272-161442273	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76126929	chr1:161442274-161442275	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563973966	chr1:161442277-161442278	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61802785	chr1:161442278-161442279	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533458059	chr1:161442280-161442281	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60406038	chr1:161442284-161442285	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550054724	chr1:161442294-161442295	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570142246	chr1:161442328-161442329	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568476754	chr1:161442331-161442332	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9427059	chr1:161442335-161442336	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs549420507	chr1:161442336-161442337	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60627524	chr1:161442338-161442339	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566354537	chr1:161442340-161442341	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182480429	chr1:161442345-161442346	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558372035	chr1:161442352-161442353	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571793556	chr1:161442360-161442361	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537653114	chr1:161442370-161442371	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555947595	chr1:161442372-161442373	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576104975	chr1:161442374-161442375	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34986385	chr1:161442382-161442383	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541400293	chr1:161442388-161442389	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145955140	chr1:161442389-161442390	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554974815	chr1:161442399-161442400	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571994371	chr1:161442404-161442405	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540967221	chr1:161442410-161442411	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161424400-161430400	Weak transcription	Right Atrium	heart
2	chr1:161441800-161442600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:161442000-161442200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:161442000-161442200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
5	chr1:161442000-161442400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr1:161442000-161442400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:161442000-161442600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:161442000-161443400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:161442200-161442400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:161442200-161442400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:161442200-161442400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
12	chr1:161442200-161442400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr1:161442200-161442400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr1:161442200-161442400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr1:161442200-161442400	Active TSS	HepG2	liver
16	chr1:161442200-161442400	Bivalent/Poised TSS	HUVEC	blood vessel
17	chr1:161442200-161442400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
18	chr1:161442200-161442600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:161442200-161442600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:161442200-161442600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:161442200-161442600	Active TSS	Hela-S3	cervix
22	chr1:161442200-161442800	Bivalent Enhancer	Placenta	Placenta
23	chr1:161442200-161442800	Enhancers	A549	lung
24	chr1:161442200-161443000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:161442200-161443200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:161442200-161443200	Bivalent/Poised TSS	Right Ventricle	heart
27	chr1:161442200-161443400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:161442200-161443400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr1:161442200-161443800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr1:161442200-161444200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:161442400-161442600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr1:161442400-161442600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:161442400-161442600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:161442400-161442600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:161442400-161442600	Flanking Active TSS	HepG2	liver
36	chr1:161442400-161443400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:161442400-161443400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:161442400-161443400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:161442400-161443400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:161442400-161443400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:161442400-161443600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:161442600-161442800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr1:161442600-161442800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:161442600-161442800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:161442600-161443000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:161442600-161443000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr1:161442600-161443000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr1:161442600-161443200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:161442600-161443200	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr1:161442600-161443400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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