Variant report

Variant	esv3417499
Chromosome Location	chr1:155679483-155680067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:155679588-155679767	SH-SY5Y	brain:	n/a	n/a
2	KAP1	chr1:155679292-155679685	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YY1AP1-1	chr1:155679889-155680019	ENSG00000227673.1

Variant related genes	Relation type
DAP3	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374129610	chr1:155679536-155679537	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535872383	chr1:155679538-155679539	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372695062	chr1:155679544-155679545	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554664018	chr1:155679545-155679546	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs80349525	chr1:155679555-155679556	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201816092	chr1:155679557-155679558	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs191412913	chr1:155679559-155679560	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372811843	chr1:155679576-155679577	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs61755343	chr1:155679584-155679585	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs369497354	chr1:155679618-155679619	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199978100	chr1:155679625-155679626	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528088972	chr1:155679664-155679665	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577450784	chr1:155679721-155679722	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544928178	chr1:155679750-155679751	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs41264961	chr1:155679758-155679759	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574730874	chr1:155679769-155679770	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541870883	chr1:155679770-155679771	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569493537	chr1:155679781-155679782	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527803451	chr1:155679793-155679794	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540017090	chr1:155679821-155679822	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374790680	chr1:155679951-155679952	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs182681304	chr1:155679974-155679975	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs532296909	chr1:155679980-155679981	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs186737101	chr1:155679992-155679993	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs537481688	chr1:155680021-155680022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75697466	chr1:155680037-155680038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs168343	chr1:155680067-155680068	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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
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	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
Ewing''s sarcoma	21437220	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
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
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155660200-155698800	Weak transcription	NHLF	lung
2	chr1:155660400-155682800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:155660400-155688800	Weak transcription	Lung	lung
4	chr1:155660400-155706200	Weak transcription	Colonic Mucosa	Colon
5	chr1:155660600-155680200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:155660800-155682600	Weak transcription	Spleen	Spleen
7	chr1:155661600-155688600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:155661600-155707800	Weak transcription	HUVEC	blood vessel
9	chr1:155662200-155682000	Weak transcription	HSMMtube	muscle
10	chr1:155662400-155682800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:155662400-155685600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:155663000-155681200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:155663200-155701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:155663400-155682600	Weak transcription	Primary B cells from cord blood	blood
15	chr1:155665200-155685800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:155665200-155708000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:155665400-155682000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:155665400-155695000	Weak transcription	Pancreas	Pancrea
19	chr1:155665400-155699000	Weak transcription	Right Ventricle	heart
20	chr1:155665600-155707200	Weak transcription	Psoas Muscle	Psoas
21	chr1:155665800-155707000	Weak transcription	Small Intestine	intestine
22	chr1:155666800-155680600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:155666800-155682600	Weak transcription	Brain Substantia Nigra	brain
24	chr1:155667000-155686800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:155667200-155681800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:155667200-155683000	Weak transcription	Brain Germinal Matrix	brain
27	chr1:155667200-155687000	Weak transcription	Brain Angular Gyrus	brain
28	chr1:155667600-155689600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:155668800-155682800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:155668800-155685600	Weak transcription	Liver	Liver
31	chr1:155669200-155702200	Weak transcription	Gastric	stomach
32	chr1:155669600-155682800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:155669800-155682600	Weak transcription	HepG2	liver
34	chr1:155671000-155682000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:155672400-155681400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:155672600-155685600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:155672800-155698800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:155673200-155695000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:155673800-155707800	Weak transcription	Aorta	Aorta
40	chr1:155674600-155682800	Weak transcription	Fetal Heart	heart
41	chr1:155674800-155685400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:155676000-155695000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:155676200-155682800	Weak transcription	NH-A	brain
44	chr1:155676200-155685400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:155676200-155685800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:155676400-155682600	Weak transcription	NHEK	skin
47	chr1:155676400-155682800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:155676400-155683000	Weak transcription	NHDF-Ad	bronchial
49	chr1:155676400-155685600	Weak transcription	HMEC	breast
50	chr1:155676400-155687000	Weak transcription	Left Ventricle	heart

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