Variant report

Variant	nsv159055
Chromosome Location	chr1:113170249-113170572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:113170429-113170634	K562	blood:	n/a	n/a
2	CEBPB	chr1:113170461-113170624	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr1:113170468-113170643	HepG2	liver:	n/a	n/a
4	CEBPB	chr1:113170414-113170688	HepG2	liver:	n/a	n/a
5	FOS	chr1:113170492-113170501	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr1:113170456-113170601	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:113170034-113170283	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113159779..113171222-chr1:113238237..113251191,41	K562	blood:
2	chr1:113167944..113171007-chr1:113245720..113249508,3	MCF-7	breast:
3	chr1:113167056..113168911-chr1:113169739..113172643,2	MCF-7	breast:
4	chr1:113167976..113172227-chr1:113246480..113250465,5	K562	blood:
5	chr1:113166891..113170892-chr1:113175321..113178466,4	MCF-7	breast:
6	chr1:113160312..113164959-chr1:113166253..113170624,10	MCF-7	breast:

No data

Variant related genes	Relation type
MRPL53P1	TF binding region
ENSG00000225075	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000155366	chromatin interactions
ENSG00000235299	chromatin interactions
ENSG00000252750	chromatin interactions
ENSG00000155363	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568257035	chr1:113170259-113170260	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs35271011	chr1:113170283-113170284	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs3034524	chr1:113170284-113170285	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs10572246	chr1:113170285-113170286	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs369406585	chr1:113170358-113170359	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs2887882	chr1:113170389-113170390	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs4606314	chr1:113170404-113170405	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs564368131	chr1:113170426-113170427	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs533346871	chr1:113170445-113170446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs554064583	chr1:113170446-113170447	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs2370887	chr1:113170492-113170493	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs148337856	chr1:113170538-113170539	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113163400-113170400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:113163600-113171600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:113163600-113173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:113163600-113180600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:113163600-113200000	Weak transcription	Fetal Kidney	kidney
6	chr1:113163800-113173200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:113163800-113176000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:113163800-113200200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:113163800-113200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:113164000-113173200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:113164000-113190000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:113164200-113175800	Weak transcription	Fetal Brain Female	brain
13	chr1:113164200-113180000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:113164200-113204200	Weak transcription	Fetal Brain Male	brain
15	chr1:113164600-113171400	Weak transcription	Placenta	Placenta
16	chr1:113164800-113179200	Weak transcription	Colonic Mucosa	Colon
17	chr1:113165200-113172200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:113165400-113174400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:113165400-113175200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:113165400-113176400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:113165600-113174400	Genic enhancers	K562	blood
22	chr1:113166000-113173200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:113167400-113173600	Genic enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:113167800-113176200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:113168000-113171000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:113168000-113180000	Weak transcription	Aorta	Aorta
27	chr1:113168200-113171200	Weak transcription	Small Intestine	intestine
28	chr1:113168400-113171000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:113168600-113171600	Enhancers	Adipose Nuclei	Adipose
30	chr1:113168600-113171800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:113168600-113171800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:113168600-113172800	Strong transcription	Hela-S3	cervix
33	chr1:113168600-113173200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:113168600-113173400	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:113168600-113177800	Weak transcription	Fetal Intestine Large	intestine
36	chr1:113168600-113179200	Weak transcription	NH-A	brain
37	chr1:113168800-113170600	Weak transcription	Brain Anterior Caudate	brain
38	chr1:113168800-113170800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:113168800-113171000	Enhancers	Primary T cells from cord blood	blood
40	chr1:113168800-113171000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:113168800-113171200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:113168800-113171200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:113168800-113171800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:113168800-113172000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:113168800-113172000	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:113168800-113172800	Weak transcription	Thymus	Thymus
47	chr1:113168800-113173000	Weak transcription	Pancreas	Pancrea
48	chr1:113168800-113173400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:113168800-113174000	Weak transcription	Psoas Muscle	Psoas
50	chr1:113168800-113174800	Weak transcription	Right Atrium	heart

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