Variant report

Variant	nsv933511
Chromosome Location	chr1:47767039-47770608
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	EP300	chr1:47768115-47768731	SK-N-SH	brain:	n/a	n/a
2	GATA2	chr1:47768133-47768493	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr1:47768009-47768533	SH-SY5Y	brain:	n/a	n/a
4	IRF1	chr1:47768614-47768700	K562	blood:	n/a	n/a
5	IRF1	chr1:47770277-47770365	K562	blood:	n/a	chr1:47770300-47770310 chr1:47770299-47770311 chr1:47770298-47770309 chr1:47770322-47770339 chr1:47770300-47770314 chr1:47770299-47770312 chr1:47770299-47770310
6	IRF1	chr1:47770489-47770651	K562	blood:	n/a	n/a
7	MYC	chr1:47768378-47768380	K562	blood:	n/a	n/a
8	POLR2A	chr1:47768088-47768384	K562	blood:	n/a	n/a
9	POLR2A	chr1:47766440-47768745	K562	blood:	n/a	n/a
10	POLR2A	chr1:47767998-47768000	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:47768021-47768051	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:47769238-47769327	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:47769190-47769348	K562	blood:	n/a	n/a
14	POLR2A	chr1:47766292-47767084	K562	blood:	n/a	n/a
15	POLR2A	chr1:47769062-47769235	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:47767914-47767960	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:47770455-47770722	K562	blood:	n/a	n/a
18	TAL1	chr1:47768284-47768451	K562	blood:	n/a	n/a
19	TBL1XR1	chr1:47767980-47767996	K562	blood:	n/a	n/a
20	ZNF274	chr1:47767777-47768273	K562	blood:	n/a	n/a
21	ZNF384	chr1:47769696-47769705	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47767622..47769726-chr1:47807132..47810061,2	K562	blood:
2	chr1:47768301..47773311-chr1:47776226..47780764,7	K562	blood:
3	chr1:47766106..47769522-chr1:47770761..47774042,5	K562	blood:
4	chr1:47745746..47747792-chr1:47765505..47768331,2	MCF-7	breast:
5	chr1:47768273..47770405-chr1:47831380..47833111,2	K562	blood:
6	chr1:47767766..47770259-chr1:47798507..47800404,2	K562	blood:
7	chr1:47766511..47768072-chr1:47777921..47779885,2	K562	blood:

Variant related genes	Relation type
STIL	TF binding region
ENSG00000162368	chromatin interactions
ENSG00000123473	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 91 )

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	rs113587774	chr1:47767060-47767061	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544801828	chr1:47767061-47767062	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56248008	chr1:47767135-47767136	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6689687	chr1:47767141-47767142	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs542224232	chr1:47767155-47767156	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372544311	chr1:47767182-47767183	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375140986	chr1:47767193-47767194	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369965821	chr1:47767209-47767210	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75983191	chr1:47767215-47767216	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138130428	chr1:47767229-47767230	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200768902	chr1:47767258-47767259	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369001599	chr1:47767271-47767272	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546840334	chr1:47767360-47767361	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143587840	chr1:47767375-47767376	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369023713	chr1:47767390-47767391	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186741500	chr1:47767403-47767404	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200334494	chr1:47767409-47767410	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536706861	chr1:47767429-47767430	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs548621824	chr1:47767454-47767455	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs377221575	chr1:47767456-47767457	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538159590	chr1:47767530-47767531	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377090383	chr1:47767541-47767542	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558907847	chr1:47767542-47767543	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372711790	chr1:47767559-47767560	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566836231	chr1:47767560-47767561	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138675352	chr1:47767589-47767590	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369437360	chr1:47767601-47767602	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370834891	chr1:47767602-47767603	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs577410441	chr1:47767608-47767609	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201522613	chr1:47767672-47767673	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs111860287	chr1:47767692-47767693	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149322245	chr1:47767709-47767710	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565667609	chr1:47767746-47767747	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538423446	chr1:47767776-47767777	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs188982304	chr1:47767854-47767855	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs370824944	chr1:47767855-47767856	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370457450	chr1:47767872-47767873	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs371263013	chr1:47767882-47767883	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs375926591	chr1:47767893-47767894	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs367777439	chr1:47767899-47767900	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs370312101	chr1:47767910-47767911	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs3125630	chr1:47767914-47767915	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs147160336	chr1:47767944-47767945	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs373640812	chr1:47767971-47767972	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs542287422	chr1:47767972-47767973	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs61782730	chr1:47768002-47768003	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368128293	chr1:47768045-47768046	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs113376047	chr1:47768052-47768053	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs560567848	chr1:47768071-47768072	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs3122606	chr1:47768073-47768074	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	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
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47714400-47779200	Weak transcription	Small Intestine	intestine
2	chr1:47714600-47778400	Weak transcription	Fetal Heart	heart
3	chr1:47716600-47772600	Strong transcription	Dnd41	blood
4	chr1:47723400-47772400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:47730400-47770200	Weak transcription	Colonic Mucosa	Colon
6	chr1:47731400-47778000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:47735400-47779000	Weak transcription	Esophagus	oesophagus
8	chr1:47741400-47771400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:47741600-47770800	Strong transcription	Fetal Thymus	thymus
10	chr1:47741800-47770800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:47742600-47773000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:47742600-47773000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:47743800-47779200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:47744200-47779000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:47744400-47779000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:47744800-47779000	Weak transcription	HSMMtube	muscle
17	chr1:47746200-47772000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:47746200-47778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:47746600-47772200	Weak transcription	Ovary	ovary
20	chr1:47746600-47776400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:47746600-47778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:47746600-47778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:47746600-47778400	Weak transcription	Fetal Brain Female	brain
24	chr1:47746800-47768800	Weak transcription	Aorta	Aorta
25	chr1:47746800-47778800	Weak transcription	Placenta	Placenta
26	chr1:47749600-47777800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:47750000-47779200	Weak transcription	Right Atrium	heart
28	chr1:47755200-47779000	Weak transcription	Primary B cells from cord blood	blood
29	chr1:47755400-47778800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:47755600-47767200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:47756600-47768400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:47757400-47773000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:47757800-47771400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:47758000-47771000	Strong transcription	K562	blood
35	chr1:47760000-47772600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:47760800-47770600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:47762200-47768200	Strong transcription	Fetal Stomach	stomach
38	chr1:47762400-47768400	Strong transcription	GM12878-XiMat	blood
39	chr1:47762400-47768400	Strong transcription	HMEC	breast
40	chr1:47763200-47769600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr1:47763400-47768000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:47763400-47778600	Weak transcription	Adipose Nuclei	Adipose
43	chr1:47763600-47779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:47763600-47779200	Weak transcription	Fetal Brain Male	brain
45	chr1:47764200-47770800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:47764200-47779000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:47764200-47779000	Weak transcription	Stomach Mucosa	stomach
48	chr1:47764400-47772600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:47764600-47771000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:47764800-47768200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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