Variant report

Variant	nsv546484
Chromosome Location	chr1:72595125-72667196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2207 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:2207 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2821236	chr1:72595125-72595126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555852549	chr1:72595166-72595167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575687551	chr1:72595190-72595191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575775587	chr1:72601284-72601285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544627316	chr1:72601292-72601293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558421688	chr1:72601302-72601303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570873568	chr1:72601309-72601310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577969987	chr1:72601347-72601348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72939385	chr1:72601349-72601350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192820571	chr1:72601445-72601446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182984082	chr1:72601470-72601471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543129137	chr1:72601526-72601527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562699906	chr1:72601533-72601534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531529328	chr1:72601578-72601579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116508455	chr1:72601588-72601589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187318192	chr1:72601612-72601613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527289158	chr1:72601626-72601627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538064689	chr1:72601651-72601652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546957967	chr1:72601676-72601677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374960375	chr1:72601700-72601701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191360883	chr1:72601745-72601746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535974852	chr1:72601750-72601751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183889915	chr1:72601779-72601780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372020938	chr1:72601812-72601813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538397461	chr1:72601834-72601835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558173409	chr1:72601835-72601836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1385911	chr1:72601854-72601855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs140764780	chr1:72602020-72602021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554244263	chr1:72602021-72602022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75047342	chr1:72602172-72602173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71074821	chr1:72602280-72602281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67974884	chr1:72602329-72602330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71500654	chr1:72602337-72602338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201265587	chr1:72602339-72602340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199785917	chr1:72602340-72602341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535071603	chr1:72602370-72602371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189347132	chr1:72602393-72602394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562989547	chr1:72602400-72602401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193111967	chr1:72602405-72602406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375312921	chr1:72602406-72602407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531415803	chr1:72602418-72602419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545141777	chr1:72602421-72602422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565051734	chr1:72602488-72602489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527544112	chr1:72602502-72602503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547272742	chr1:72602578-72602579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560576425	chr1:72602597-72602598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185107410	chr1:72602599-72602600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549477347	chr1:72602717-72602718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs569688465	chr1:72602720-72602721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144715825	chr1:72602724-72602725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72592400-72595200	Weak transcription	Left Ventricle	heart
2	chr1:72601200-72601600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:72601600-72602600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:72602600-72604600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:72604600-72629600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:72605600-72606400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:72605600-72606400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:72605800-72606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:72605800-72606400	Enhancers	HUVEC	blood vessel
10	chr1:72606000-72606200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:72606000-72606400	Enhancers	HSMM	muscle
12	chr1:72606000-72606400	Enhancers	NHEK	skin
13	chr1:72606200-72613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:72613600-72614200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:72614200-72624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:72618600-72619000	Enhancers	Brain Substantia Nigra	brain
17	chr1:72629600-72630000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:72629600-72630000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:72630800-72633000	Enhancers	HUVEC	blood vessel
20	chr1:72633000-72636000	Weak transcription	HUVEC	blood vessel
21	chr1:72636000-72638600	Enhancers	HUVEC	blood vessel
22	chr1:72636600-72637000	Enhancers	Fetal Lung	lung
23	chr1:72642200-72642400	Enhancers	Colon Smooth Muscle	Colon
24	chr1:72642800-72643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:72643400-72644200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:72643400-72644200	Enhancers	NHDF-Ad	bronchial
27	chr1:72643400-72644400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:72643400-72644400	Enhancers	Osteobl	bone
29	chr1:72643400-72644800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:72643600-72643800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:72643600-72644200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:72643600-72644200	Enhancers	HSMM	muscle
33	chr1:72643600-72644200	Enhancers	HSMMtube	muscle
34	chr1:72643600-72644400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:72643600-72644600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:72643600-72644600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:72643600-72645200	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:72643800-72644200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:72643800-72644400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:72643800-72644400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:72643800-72644400	Enhancers	Colon Smooth Muscle	Colon
42	chr1:72644000-72644400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:72644200-72644600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:72644400-72644600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:72644400-72648800	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:72644400-72649000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:72644400-72649000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:72644400-72649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:72644400-72649200	Weak transcription	Osteobl	bone
50	chr1:72644400-72668200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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