Variant report

Variant	nsv946314
Chromosome Location	chr1:152177841-152178916
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	POLR2A	chr1:152178471-152178473	K562	blood:	n/a	n/a
2	POLR2A	chr1:152178056-152178249	K562	blood:	n/a	n/a
3	STAT3	chr1:152178238-152178456	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE5A-3	chr1:152177537-152178552	NONHSAT006473
2	lnc-LCE5A-3	chr1:152178334-152178531	ENSG00000236427.1

Variant related genes	Relation type
ENSG00000236427	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576702150	chr1:152177847-152177848	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs545313058	chr1:152177855-152177856	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs564886538	chr1:152177921-152177922	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs183487545	chr1:152177928-152177929	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541114454	chr1:152177941-152177942	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs561271433	chr1:152177985-152177986	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs186214871	chr1:152177999-152178000	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs877776	chr1:152178018-152178019	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs190151370	chr1:152178038-152178039	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs561397751	chr1:152178041-152178042	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs77112961	chr1:152178051-152178052	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182829511	chr1:152178071-152178072	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs565640637	chr1:152178093-152178094	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs877775	chr1:152178095-152178096	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs71515790	chr1:152178101-152178102	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192354813	chr1:152178181-152178182	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs145251789	chr1:152178269-152178270	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs183866832	chr1:152178274-152178275	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs12096493	chr1:152178275-152178276	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369076155	chr1:152178379-152178380	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs538902668	chr1:152178388-152178389	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs12091872	chr1:152178459-152178460	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540650043	chr1:152178544-152178545	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs868303	chr1:152178563-152178564	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs868304	chr1:152178568-152178569	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs142430891	chr1:152178578-152178579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57344531	chr1:152178579-152178580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543917263	chr1:152178589-152178590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71625160	chr1:152178612-152178613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs76361810	chr1:152178724-152178725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193043302	chr1:152178740-152178741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559732547	chr1:152178741-152178742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528072519	chr1:152178745-152178746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547912747	chr1:152178848-152178849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	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
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
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
Breast cancer	21611746	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
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	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
Follicular lymphoma	18703704	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
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152162200-152180200	Weak transcription	Ovary	ovary
2	chr1:152164400-152178400	Weak transcription	Esophagus	oesophagus
3	chr1:152171800-152178000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:152173000-152180200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:152178000-152180000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:152178200-152178600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:152178200-152179000	Enhancers	Fetal Heart	heart
8	chr1:152178400-152179000	Enhancers	Esophagus	oesophagus
9	chr1:152178400-152179000	Enhancers	Right Ventricle	heart
10	chr1:152178600-152179000	Enhancers	Left Ventricle	heart
11	chr1:152178600-152184200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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