Variant report

Variant	nsv546632
Chromosome Location	chr1:79534138-79594157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:79527063..79529337-chr1:79533334..79535055,2	K562	blood:
2	chr1:79536026..79538535-chr1:79539899..79541790,2	K562	blood:
3	chr1:79536026..79538535-chr1:79539899..79541790,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFI44-7	chr1:79562972-79563122	NONHSAT004086
2	lnc-IFI44-7	chr1:79562042-79562232	NONHSAT004086

Extended variants
information (count: 1750 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1750 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116639111	chr1:79536818-79536819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189987298	chr1:79536829-79536830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140822180	chr1:79536882-79536883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536789349	chr1:79536896-79536897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113564081	chr1:79536907-79536908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78813457	chr1:79536937-79536938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12033116	chr1:79536976-79536977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558593175	chr1:79537014-79537015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576761505	chr1:79537024-79537025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544077852	chr1:79537069-79537070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371090678	chr1:79537184-79537185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574287297	chr1:79537228-79537229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77635623	chr1:79537236-79537237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7516099	chr1:79537237-79537238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541531852	chr1:79537271-79537272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12089430	chr1:79537285-79537286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138603846	chr1:79537293-79537294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183022906	chr1:79537322-79537323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565324695	chr1:79537342-79537343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532884982	chr1:79537365-79537366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11162613	chr1:79537427-79537428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7518671	chr1:79537440-79537441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149315432	chr1:79537445-79537446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147010444	chr1:79537499-79537500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566920912	chr1:79537511-79537512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149263511	chr1:79537541-79537542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370220725	chr1:79537542-79537543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386367416	chr1:79537551-79537552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35759460	chr1:79537555-79537556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71242602	chr1:79537556-79537557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534020277	chr1:79537575-79537576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188511502	chr1:79537602-79537603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11162614	chr1:79537626-79537627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371255795	chr1:79537629-79537630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555997598	chr1:79537641-79537642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141374211	chr1:79537642-79537643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544917205	chr1:79537655-79537656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574096094	chr1:79537677-79537678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61769007	chr1:79537722-79537723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553602649	chr1:79537743-79537744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12089633	chr1:79537767-79537768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192986894	chr1:79537845-79537846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565520705	chr1:79537861-79537862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184048265	chr1:79537862-79537863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544931485	chr1:79537870-79537871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112681985	chr1:79537880-79537881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530131026	chr1:79537898-79537899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548598601	chr1:79537912-79537913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74093160	chr1:79537939-79537940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76262884	chr1:79537945-79537946	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79536800-79538600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:79537000-79538800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:79544800-79548600	Enhancers	HUVEC	blood vessel
4	chr1:79545000-79546000	Enhancers	Adipose Nuclei	Adipose
5	chr1:79545200-79546000	Enhancers	HMEC	breast
6	chr1:79545200-79546000	Enhancers	NH-A	brain
7	chr1:79545200-79546000	Enhancers	NHDF-Ad	bronchial
8	chr1:79545200-79546200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:79545200-79546200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:79545200-79546600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:79545200-79546600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:79545200-79546600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:79545400-79545800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:79545400-79545800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:79545400-79545800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:79545400-79545800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:79545400-79546000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:79545400-79546000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:79545400-79546000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:79545400-79546000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:79545400-79546000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:79545400-79546000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:79545400-79546000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:79545400-79546000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:79545400-79546000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:79545400-79546000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:79545400-79546000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:79545400-79546000	Enhancers	Hela-S3	cervix
29	chr1:79545400-79546000	Enhancers	HSMM	muscle
30	chr1:79545400-79546000	Enhancers	HSMMtube	muscle
31	chr1:79545400-79546000	Enhancers	NHLF	lung
32	chr1:79545400-79546000	Enhancers	Osteobl	bone
33	chr1:79545600-79545800	Enhancers	GM12878-XiMat	blood
34	chr1:79545600-79546000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:79545600-79546000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:79545600-79546000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:79545600-79546000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:79545600-79546000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:79545600-79546000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:79545600-79546000	Enhancers	Spleen	Spleen
41	chr1:79546000-79555000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:79546600-79547800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:79547800-79548400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:79554200-79555400	Enhancers	HMEC	breast
45	chr1:79554800-79555200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:79555000-79557200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:79555200-79556200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:79555400-79555800	Weak transcription	HMEC	breast
49	chr1:79555800-79557200	Enhancers	HMEC	breast
50	chr1:79556200-79556400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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