Variant report

Variant	esv3334068
Chromosome Location	chr1:192970104-192970663
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	chr1:192970631..192973618-chr1:193027189..193029600,2	K562	blood:

Variant related genes	Relation type
ENSG00000116747	chromatin interactions
ENSG00000116750	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12087338	chr1:192970125-192970126	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570342546	chr1:192970144-192970145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552652081	chr1:192970157-192970158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs138005122	chr1:192970159-192970160	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562970522	chr1:192970185-192970186	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs34607800	chr1:192970306-192970307	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150776244	chr1:192970342-192970343	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199889353	chr1:192970376-192970377	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373745848	chr1:192970383-192970384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541998497	chr1:192970393-192970394	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561784403	chr1:192970397-192970398	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548460387	chr1:192970401-192970402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10921302	chr1:192970418-192970419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137969042	chr1:192970456-192970457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531869656	chr1:192970465-192970466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568614608	chr1:192970466-192970467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534492748	chr1:192970500-192970501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547850413	chr1:192970501-192970502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570843153	chr1:192970517-192970518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75795020	chr1:192970571-192970572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139693968	chr1:192970584-192970585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367772063	chr1:192970587-192970588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556638012	chr1:192970590-192970591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12740200	chr1:192970612-192970613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149123075	chr1:192970613-192970614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200032539	chr1:192970618-192970619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191828833	chr1:192970627-192970628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184133209	chr1:192970653-192970654	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147137257	chr1:192970657-192970658	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
2	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
3	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:192954800-192978800	Weak transcription	Right Ventricle	heart
5	chr1:192955800-192972400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:192956200-192972000	Weak transcription	Brain Anterior Caudate	brain
8	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
10	chr1:192961400-192976000	Weak transcription	HepG2	liver
11	chr1:192961800-192976200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:192962600-192986400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:192963000-192982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:192963600-192983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:192963800-192972000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:192963800-192972000	Weak transcription	Adipose Nuclei	Adipose
17	chr1:192963800-192972600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:192963800-192973200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:192963800-192974800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:192963800-192981400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:192963800-192981600	Weak transcription	NHLF	lung
22	chr1:192963800-192982000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:192963800-192982200	Weak transcription	Aorta	Aorta
24	chr1:192963800-192983000	Weak transcription	NH-A	brain
25	chr1:192963800-192990000	Weak transcription	HMEC	breast
26	chr1:192963800-192994400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
28	chr1:192963800-193012400	Weak transcription	NHEK	skin
29	chr1:192963800-193019600	Weak transcription	Ovary	ovary
30	chr1:192964000-192971400	Weak transcription	Liver	Liver
31	chr1:192964000-192972600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:192964000-192973400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:192964000-192975000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:192964000-192977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:192964000-192981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:192964000-192981800	Weak transcription	HSMM	muscle
37	chr1:192964000-192983000	Weak transcription	Fetal Thymus	thymus
38	chr1:192964000-192984600	Weak transcription	Primary B cells from cord blood	blood
39	chr1:192964000-192990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:192964000-192994400	Weak transcription	Left Ventricle	heart
41	chr1:192965000-192990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:192966200-192971000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:192966200-192994200	Weak transcription	Primary T cells from cord blood	blood
44	chr1:192966400-192970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:192966400-192976800	Weak transcription	A549	lung
46	chr1:192966400-192985200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:192966800-192970400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:192967200-192970800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:192967200-192983600	Weak transcription	HUVEC	blood vessel
50	chr1:192967600-192982800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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