Variant report

Variant	esv3448088
Chromosome Location	chr1:144705595-144710724
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	chr1:144709036..144711011-chr1:144986149..144988620,2	K562	blood:
2	chr1:144708092..144711018-chr1:144989311..144991763,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 163 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587699394	chr1:144705664-144705665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373638389	chr1:144705681-144705682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587606396	chr1:144705705-144705706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587638899	chr1:144705708-144705709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200634121	chr1:144705724-144705725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369516459	chr1:144705882-144705883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371178401	chr1:144705897-144705898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587733038	chr1:144705969-144705970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587605274	chr1:144705975-144705976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587666697	chr1:144705980-144705981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587740585	chr1:144705995-144705996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587641786	chr1:144706017-144706018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201990306	chr1:144706022-144706023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149612553	chr1:144706083-144706084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200705530	chr1:144706147-144706148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587655990	chr1:144706186-144706187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587687313	chr1:144706219-144706220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587749713	chr1:144706239-144706240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201641694	chr1:144706265-144706266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367655108	chr1:144706319-144706320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371448367	chr1:144706331-144706332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587682374	chr1:144706349-144706350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587765785	chr1:144706368-144706369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146517486	chr1:144706393-144706394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144075252	chr1:144706408-144706409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369877910	chr1:144706409-144706410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587638961	chr1:144706416-144706417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587720459	chr1:144706417-144706418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74852075	chr1:144706418-144706419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587599870	chr1:144706421-144706422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368008125	chr1:144706435-144706436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373294765	chr1:144706436-144706437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587652586	chr1:144706440-144706441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201252417	chr1:144706455-144706456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199994635	chr1:144706569-144706570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587705414	chr1:144706577-144706578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111409464	chr1:144706662-144706663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587610410	chr1:144706718-144706719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587659659	chr1:144706809-144706810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587745713	chr1:144706910-144706911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587619400	chr1:144706955-144706956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587700896	chr1:144706959-144706960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587758324	chr1:144707000-144707001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587633498	chr1:144707022-144707023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587692409	chr1:144707044-144707045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140245958	chr1:144707059-144707060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148255167	chr1:144707157-144707158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587723809	chr1:144707162-144707163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141248230	chr1:144707178-144707179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587627744	chr1:144707179-144707180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:163)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	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
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	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
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	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
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144690600-144709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:144690800-144706800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:144692200-144709200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:144692400-144707200	Weak transcription	K562	blood
5	chr1:144692400-144709000	Weak transcription	Brain Anterior Caudate	brain
6	chr1:144692400-144709400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:144693000-144706200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:144693000-144707200	Weak transcription	HSMM	muscle
9	chr1:144693000-144708000	Weak transcription	Osteobl	bone
10	chr1:144693000-144709200	Weak transcription	HSMMtube	muscle
11	chr1:144697200-144709000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:144697200-144709200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:144697200-144709200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:144697400-144707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:144697800-144707200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:144700600-144708600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:144700800-144707000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:144700800-144707200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:144701200-144705800	Weak transcription	Fetal Heart	heart
20	chr1:144701200-144705800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:144701200-144707200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:144701200-144707800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:144701200-144709200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:144701400-144707200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:144702400-144709000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:144702800-144706800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:144702800-144709200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:144703000-144705800	Weak transcription	Primary T cells from cord blood	blood
29	chr1:144703000-144707200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:144703000-144708800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:144705200-144708000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:144705600-144705800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:144705800-144706000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:144705800-144706000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr1:144705800-144706000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:144705800-144706400	Enhancers	Primary T cells from cord blood	blood
37	chr1:144705800-144707600	Enhancers	Fetal Heart	heart
38	chr1:144706000-144707200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:144706000-144707200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:144706000-144707200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:144706200-144708600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:144706400-144709200	Weak transcription	Primary T cells from cord blood	blood
43	chr1:144706800-144707200	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:144706800-144708200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:144706800-144709200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:144707000-144707400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:144707000-144708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:144707200-144707400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:144707200-144707400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:144707200-144707400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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