Variant report

Variant	nsv546478
Chromosome Location	chr1:72442018-72512391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:72495707..72498590-chr1:72500903..72503366,2	K562	blood:
2	chr1:72495707..72498590-chr1:72500903..72503366,2	K562	blood:
3	chr1:72497090..72498877-chr1:72501866..72504493,2	K562	blood:
4	chr1:72488016..72488819-chr1:72503014..72503883,2	K562	blood:
5	chr1:72472788..72474801-chr1:72492789..72495541,2	K562	blood:
6	chr1:72467998..72470410-chr1:72472067..72474561,2	K562	blood:
7	chr1:72488016..72488819-chr1:72503014..72503883,2	K562	blood:
8	chr1:72053665..72054637-chr1:72503102..72503767,2	MCF-7	breast:
9	chr1:72472788..72474801-chr1:72492789..72495541,2	K562	blood:
10	chr1:72467998..72470410-chr1:72472067..72474561,2	K562	blood:
11	chr1:72497090..72498877-chr1:72501866..72504493,2	K562	blood:
12	chr1:72483188..72484849-chr1:72487728..72489377,2	K562	blood:
13	chr1:72511431..72513999-chr1:72515087..72517593,2	K562	blood:
14	chr1:72487764..72489951-chr1:72495667..72497783,2	K562	blood:
15	chr1:72487764..72489951-chr1:72495667..72497783,2	K562	blood:
16	chr1:71559221..71560259-chr1:72503170..72503778,3	MCF-7	breast:
17	chr1:72463115..72465700-chr1:72466215..72468715,2	K562	blood:
18	chr1:72463115..72465700-chr1:72466215..72468715,2	K562	blood:
19	chr1:72483188..72484849-chr1:72487728..72489377,2	K562	blood:

No data

Extended variants
information (count: 2129 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:2129 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10518394	chr1:72442018-72442019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549621766	chr1:72442033-72442034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146432370	chr1:72442064-72442065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537709218	chr1:72442071-72442072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557711791	chr1:72442072-72442073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566256862	chr1:72442083-72442084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370339619	chr1:72442084-72442085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78693035	chr1:72442099-72442100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558219655	chr1:72442102-72442103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573304620	chr1:72442154-72442155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188850739	chr1:72442214-72442215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561504043	chr1:72442221-72442222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181298113	chr1:72442286-72442287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544073731	chr1:72442310-72442311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564065696	chr1:72442311-72442312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532923727	chr1:72442346-72442347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546317736	chr1:72442431-72442432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116382147	chr1:72442510-72442511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528943745	chr1:72442515-72442516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185555244	chr1:72442566-72442567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568644518	chr1:72442577-72442578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17092014	chr1:72442583-72442584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371461576	chr1:72442614-72442615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2489821	chr1:72442685-72442686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571202133	chr1:72442690-72442691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539819325	chr1:72442712-72442713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368536359	chr1:72442730-72442731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372566614	chr1:72442748-72442749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573197484	chr1:72442772-72442773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535544145	chr1:72442776-72442777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573894791	chr1:72442781-72442782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555462941	chr1:72442817-72442818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575071243	chr1:72442818-72442819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190059988	chr1:72442823-72442824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564028795	chr1:72442836-72442837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572554899	chr1:72442840-72442841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577903380	chr1:72442858-72442859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539187563	chr1:72442863-72442864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540532546	chr1:72442903-72442904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368621221	chr1:72442919-72442920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372865930	chr1:72442939-72442940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559860965	chr1:72442956-72442957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528907935	chr1:72442987-72442988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61765349	chr1:72442988-72442989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs79010230	chr1:72443008-72443009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77935402	chr1:72443009-72443010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61765350	chr1:72443063-72443064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531119016	chr1:72443077-72443078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551079856	chr1:72443124-72443125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551244565	chr1:72443148-72443149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
small cell lung cancer	20016488	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72438000-72443600	Weak transcription	Fetal Heart	heart
2	chr1:72443600-72446200	Enhancers	Fetal Heart	heart
3	chr1:72444600-72447400	Enhancers	Dnd41	blood
4	chr1:72446200-72446600	Enhancers	Primary T cells from cord blood	blood
5	chr1:72446200-72446600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:72446200-72446600	Flanking Active TSS	Fetal Heart	heart
7	chr1:72446200-72446600	Enhancers	Thymus	Thymus
8	chr1:72446600-72447400	Enhancers	Fetal Heart	heart
9	chr1:72447400-72447800	Weak transcription	Fetal Heart	heart
10	chr1:72447800-72448800	Enhancers	Fetal Heart	heart
11	chr1:72448800-72449200	Weak transcription	Fetal Heart	heart
12	chr1:72449200-72449400	Enhancers	Fetal Heart	heart
13	chr1:72449400-72452000	Weak transcription	Fetal Heart	heart
14	chr1:72451600-72452400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:72451800-72452200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:72451800-72452200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:72451800-72452400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:72451800-72452800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:72451800-72453200	Enhancers	Colon Smooth Muscle	Colon
20	chr1:72452000-72452400	Enhancers	Ovary	ovary
21	chr1:72452000-72452400	Enhancers	NH-A	brain
22	chr1:72452000-72453400	Enhancers	Fetal Muscle Leg	muscle
23	chr1:72452000-72453600	Enhancers	Fetal Heart	heart
24	chr1:72452000-72454000	Enhancers	Fetal Stomach	stomach
25	chr1:72452200-72452600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:72452200-72452600	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:72452200-72453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:72452200-72453400	Enhancers	Right Atrium	heart
29	chr1:72452400-72452600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:72452400-72452800	Weak transcription	Ovary	ovary
31	chr1:72452800-72454000	Enhancers	Ovary	ovary
32	chr1:72453200-72453400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:72453400-72453600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:72453400-72453600	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:72454000-72454800	Weak transcription	Fetal Stomach	stomach
36	chr1:72454800-72455000	Enhancers	Colon Smooth Muscle	Colon
37	chr1:72454800-72455400	Enhancers	Fetal Stomach	stomach
38	chr1:72457000-72457400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:72457000-72457400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:72459400-72461400	Enhancers	Dnd41	blood
41	chr1:72464600-72465200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:72465600-72467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:72466000-72467200	Enhancers	NHEK	skin
44	chr1:72466200-72466400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:72466400-72466600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:72466400-72466600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:72466400-72466800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:72466400-72466800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:72466400-72466800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:72466400-72466800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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