Variant report

Variant	esv275470
Chromosome Location	chr1:154760595-154761109
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	chr1:154759542..154761581-chr1:154772546..154775342,2	K562	blood:
2	chr1:154749107..154752078-chr1:154759443..154761879,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1777910	chr1:154760595-154760596	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111299353	chr1:154760626-154760627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1702179	chr1:154760636-154760637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149955260	chr1:154760656-154760657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12726787	chr1:154760719-154760720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375853545	chr1:154760793-154760794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529068444	chr1:154760799-154760800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547925725	chr1:154760820-154760821	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557492773	chr1:154760828-154760829	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185509329	chr1:154760848-154760849	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376166457	chr1:154760904-154760905	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11584635	chr1:154760965-154760966	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs111505273	chr1:154761019-154761020	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570019518	chr1:154761053-154761054	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537378925	chr1:154761066-154761067	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1891806	chr1:154761068-154761069	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:111)

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
Ewing''s sarcoma	21437220	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
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Esophageal squamous carcinoma	18350619	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
2	chr1:154746600-154763800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:154748800-154760600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:154748800-154764000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:154750000-154763800	Weak transcription	HSMMtube	muscle
6	chr1:154754200-154760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:154755200-154760800	Enhancers	Thymus	Thymus
8	chr1:154756000-154767200	Enhancers	Fetal Thymus	thymus
9	chr1:154757600-154763800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:154757800-154760600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:154757800-154761000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:154758000-154763200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:154758000-154763200	Weak transcription	Dnd41	blood
14	chr1:154758000-154763800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:154758200-154761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:154758200-154763200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:154758200-154763200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:154758400-154762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:154758400-154762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:154758400-154763400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:154758400-154763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:154758600-154763000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:154758600-154763000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:154758600-154763800	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:154758800-154762800	Weak transcription	Primary T cells from cord blood	blood
26	chr1:154758800-154762800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:154758800-154762800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:154758800-154763000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:154758800-154763800	Weak transcription	Right Atrium	heart
30	chr1:154759400-154760600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:154759400-154761200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:154759400-154762600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:154759600-154760600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr1:154759600-154761000	Enhancers	Fetal Brain Female	brain
35	chr1:154759600-154761400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:154759600-154762600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:154759800-154761200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:154759800-154761400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:154759800-154761800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:154759800-154762800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:154760000-154760600	Enhancers	Brain Substantia Nigra	brain
42	chr1:154760000-154763000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:154760000-154764000	Weak transcription	Spleen	Spleen
44	chr1:154760200-154760600	Genic enhancers	GM12878-XiMat	blood
45	chr1:154760200-154761800	Enhancers	Brain Anterior Caudate	brain
46	chr1:154760200-154763800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:154760400-154760600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:154760400-154760600	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:154760400-154761000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:154760400-154761200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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