Variant report

Variant	esv997677
Chromosome Location	chr1:67186675-67194280
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	chr1:67166132..67168879-chr1:67189803..67192452,2	K562	blood:
2	chr1:67072874..67073739-chr1:67191676..67192371,2	K562	blood:

Extended variants
information (count: 256 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192639368	chr1:67186681-67186682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147798330	chr1:67186742-67186743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527911962	chr1:67186786-67186787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185688983	chr1:67186789-67186790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76939054	chr1:67186808-67186809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577539483	chr1:67186859-67186860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189015268	chr1:67186867-67186868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192990994	chr1:67186868-67186869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573697709	chr1:67186881-67186882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542410190	chr1:67186946-67186947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184334985	chr1:67186949-67186950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575841902	chr1:67186950-67186951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188774159	chr1:67187015-67187016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564855937	chr1:67187018-67187019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114130334	chr1:67187029-67187030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547507021	chr1:67187034-67187035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561424374	chr1:67187050-67187051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141291490	chr1:67187084-67187085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535340296	chr1:67187094-67187095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs492109	chr1:67187133-67187134	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531303264	chr1:67187178-67187179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549804437	chr1:67187252-67187253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368000018	chr1:67187272-67187273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372118911	chr1:67187273-67187274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374106375	chr1:67187277-67187278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564827365	chr1:67187281-67187282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35426912	chr1:67187354-67187355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539249911	chr1:67187360-67187361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552884876	chr1:67187372-67187373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17129384	chr1:67187414-67187415	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533775419	chr1:67187517-67187518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146981016	chr1:67187545-67187546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573584850	chr1:67187560-67187561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138049464	chr1:67187618-67187619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149107930	chr1:67187619-67187620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76173502	chr1:67187651-67187652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555936312	chr1:67187670-67187671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532463580	chr1:67187694-67187695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544831092	chr1:67187710-67187711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565170528	chr1:67187743-67187744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572291110	chr1:67187761-67187762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541413052	chr1:67187773-67187774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370280200	chr1:67187789-67187790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181242707	chr1:67187816-67187817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75657193	chr1:67187912-67187913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371613835	chr1:67187991-67187992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79919968	chr1:67187994-67187995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs501193	chr1:67187996-67187997	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552846441	chr1:67188007-67188008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566363090	chr1:67188008-67188009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67156800-67191400	Weak transcription	Fetal Brain Female	brain
2	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
3	chr1:67157200-67189600	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:67157400-67191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:67158200-67189400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:67158400-67191400	Weak transcription	Left Ventricle	heart
7	chr1:67158600-67189400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:67160400-67189400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:67165200-67191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:67165400-67187600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:67165400-67191600	Weak transcription	Aorta	Aorta
12	chr1:67165400-67206800	Weak transcription	Fetal Brain Male	brain
13	chr1:67170200-67186800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:67171400-67189400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:67171400-67198000	Weak transcription	NHLF	lung
16	chr1:67177600-67189400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:67177600-67189400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:67179600-67191400	Weak transcription	NHDF-Ad	bronchial
19	chr1:67181200-67191200	Weak transcription	Brain Substantia Nigra	brain
20	chr1:67184800-67199400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:67185000-67188600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:67185400-67191200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:67186000-67189800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:67186000-67190600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:67186200-67188200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:67186400-67190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:67186400-67205000	Weak transcription	Fetal Heart	heart
28	chr1:67186800-67188200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:67187600-67188400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:67188200-67188600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:67188200-67191200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:67188400-67191400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:67188600-67191400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:67189400-67189600	Enhancers	Brain Anterior Caudate	brain
36	chr1:67189400-67189800	Enhancers	Brain Angular Gyrus	brain
37	chr1:67189400-67190000	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:67189400-67190400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:67189400-67190400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:67189400-67190400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr1:67189400-67192200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:67189600-67190000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:67189600-67190000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:67189600-67190000	Enhancers	NH-A	brain
45	chr1:67189600-67190600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:67189600-67190800	Enhancers	Osteobl	bone
47	chr1:67189600-67192200	Enhancers	Brain Hippocampus Middle	brain
48	chr1:67189800-67190600	Weak transcription	Brain Angular Gyrus	brain
49	chr1:67189800-67190800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:67190000-67190200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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