Variant report

Variant	nsv946149
Chromosome Location	chr1:113711550-113712161
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	CTCF	chr1:113711687-113711855	T-47D	breast:	n/a	n/a
2	E2F4	chr1:113712117-113712138	MCF10A-Er-Src	breast:	n/a	n/a
3	JUND	chr1:113711506-113711625	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRIG2-6	chr1:113711616-113712025	NONHSAT005320

Variant related genes	Relation type
ENSG00000233839	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555826853	chr1:113711563-113711564	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs531673236	chr1:113711585-113711586	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs111603839	chr1:113711591-113711592	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs113805633	chr1:113711601-113711602	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568070065	chr1:113711602-113711603	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs530125282	chr1:113711611-113711612	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs574225733	chr1:113711646-113711647	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs570408585	chr1:113711652-113711653	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1316767	chr1:113711657-113711658	Enhancers Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558768724	chr1:113711658-113711659	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs569085744	chr1:113711710-113711711	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs181207053	chr1:113711715-113711716	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs554927191	chr1:113711725-113711726	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs147221599	chr1:113711727-113711728	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs574782084	chr1:113711739-113711740	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs186915721	chr1:113711745-113711746	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs1804415	chr1:113711774-113711775	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs554133298	chr1:113711783-113711784	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs577454279	chr1:113711794-113711795	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs546302777	chr1:113711806-113711807	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs188899056	chr1:113711830-113711831	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs576277972	chr1:113711850-113711851	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs542123521	chr1:113711856-113711857	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs561793554	chr1:113711867-113711868	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527287904	chr1:113711891-113711892	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs78286988	chr1:113711896-113711897	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563732026	chr1:113711898-113711899	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs373790701	chr1:113711913-113711914	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs17031158	chr1:113711956-113711957	Enhancers Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs17031160	chr1:113711973-113711974	Enhancers Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569122448	chr1:113711976-113711977	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs146191020	chr1:113711993-113711994	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs535250619	chr1:113711994-113711995	Enhancers Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112356667	chr1:113712003-113712004	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs113881027	chr1:113712010-113712011	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs376960332	chr1:113712021-113712022	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs552788246	chr1:113712040-113712041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568707014	chr1:113712052-113712053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534497182	chr1:113712056-113712057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553911356	chr1:113712057-113712058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577287651	chr1:113712060-113712061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1141522	chr1:113712061-113712062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6812	chr1:113712062-113712063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3205381	chr1:113712066-113712067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11540239	chr1:113712068-113712069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556660902	chr1:113712109-113712110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113707200-113711600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:113708400-113714000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:113711200-113712600	Enhancers	Liver	Liver
4	chr1:113711400-113711800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:113711600-113712000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:113711600-113712600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:113711800-113713200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:113712000-113713600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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