Variant report

Variant	esv3397160
Chromosome Location	chr1:181016474-181016829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61809220	chr1:181016503-181016504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548983015	chr1:181016516-181016517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6684455	chr1:181016529-181016530	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141749661	chr1:181016532-181016533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180887296	chr1:181016562-181016563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183739217	chr1:181016591-181016592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538896797	chr1:181016611-181016612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539842135	chr1:181016691-181016692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569591813	chr1:181016711-181016712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188057463	chr1:181016762-181016763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12727543	chr1:181016774-181016775	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573631516	chr1:181016785-181016786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140861343	chr1:181016809-181016810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:181004000-181025400	Weak transcription	Fetal Stomach	stomach
2	chr1:181004000-181025800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:181004000-181026200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:181005600-181025800	Weak transcription	Right Ventricle	heart
5	chr1:181005600-181026000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:181005600-181026400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:181005600-181028200	Weak transcription	Gastric	stomach
8	chr1:181005600-181028600	Weak transcription	Ovary	ovary
9	chr1:181007200-181026600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:181008600-181020800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:181008600-181031400	Weak transcription	NHLF	lung
12	chr1:181008800-181022800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:181010800-181024600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:181011000-181018400	Weak transcription	HSMM	muscle
15	chr1:181011000-181025600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:181011000-181031400	Weak transcription	Osteobl	bone
17	chr1:181011200-181019200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:181011200-181024600	Weak transcription	Aorta	Aorta
19	chr1:181012600-181020200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:181012600-181024400	Weak transcription	Adipose Nuclei	Adipose
21	chr1:181012800-181016600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:181012800-181028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:181013000-181020800	Weak transcription	Small Intestine	intestine
24	chr1:181013600-181018800	Weak transcription	Primary B cells from cord blood	blood
25	chr1:181013800-181019200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:181013800-181026400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:181013800-181027400	Weak transcription	Colonic Mucosa	Colon
28	chr1:181013800-181031000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:181014000-181018200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:181014000-181020800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:181014000-181023000	Weak transcription	Placenta	Placenta
32	chr1:181014000-181023000	Strong transcription	Thymus	Thymus
33	chr1:181014000-181024400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:181014000-181024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:181014000-181024800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:181014000-181027400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:181014000-181028000	Weak transcription	Pancreas	Pancrea
38	chr1:181014000-181028800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:181014000-181031400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:181014000-181031600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:181014200-181016600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:181014200-181018000	Weak transcription	Dnd41	blood
43	chr1:181014200-181020800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:181014200-181028000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:181014400-181030600	Weak transcription	Liver	Liver
46	chr1:181014600-181017000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:181014600-181017600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:181014600-181017800	Weak transcription	Primary T cells from cord blood	blood
49	chr1:181014600-181018400	Weak transcription	GM12878-XiMat	blood
50	chr1:181014600-181020600	Weak transcription	Fetal Thymus	thymus

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