Variant report

Variant	nsv871620
Chromosome Location	chr1:58127171-58157778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:58138959..58141721-chr1:58142053..58144092,2	K562	blood:
2	chr1:58133234..58135282-chr1:58139116..58141569,2	K562	blood:
3	chr1:58133234..58135282-chr1:58139116..58141569,2	K562	blood:
4	chr1:58138959..58141721-chr1:58142053..58144092,2	K562	blood:

Extended variants
information (count: 439 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4420112	chr1:58127171-58127172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374444853	chr1:58127177-58127178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536393293	chr1:58127219-58127220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548425811	chr1:58127340-58127341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546896173	chr1:58127362-58127363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560723065	chr1:58127391-58127392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527321502	chr1:58127441-58127442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532139413	chr1:58127489-58127490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552288836	chr1:58127509-58127510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568929957	chr1:58127563-58127564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182255721	chr1:58127566-58127567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545656003	chr1:58127616-58127617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61769639	chr1:58127654-58127655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147625144	chr1:58127655-58127656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534077261	chr1:58127662-58127663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553711877	chr1:58127666-58127667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576964835	chr1:58127677-58127678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538788981	chr1:58127732-58127733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114291602	chr1:58127733-58127734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575288677	chr1:58127812-58127813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544223000	chr1:58127837-58127838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552364175	chr1:58127851-58127852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575356179	chr1:58127852-58127853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546042753	chr1:58127856-58127857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564059776	chr1:58127875-58127876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6658850	chr1:58127918-58127919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184740164	chr1:58127929-58127930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572934558	chr1:58127937-58127938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150174019	chr1:58128013-58128014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552754459	chr1:58128018-58128019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538871999	chr1:58128025-58128026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544977723	chr1:58128087-58128088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559221645	chr1:58128111-58128112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188141108	chr1:58128112-58128113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11207090	chr1:58128119-58128120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533889137	chr1:58128147-58128148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180998015	chr1:58128192-58128193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547660345	chr1:58128223-58128224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570614877	chr1:58128280-58128281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568207281	chr1:58128307-58128308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539253218	chr1:58128337-58128338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555913743	chr1:58128339-58128340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74075803	chr1:58128346-58128347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537936085	chr1:58128381-58128382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113292638	chr1:58128383-58128384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574775951	chr1:58128407-58128408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540219353	chr1:58128408-58128409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554448116	chr1:58128422-58128423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577583579	chr1:58128437-58128438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368089627	chr1:58128481-58128482	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58125000-58128400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:58128400-58128600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:58135200-58135600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:58135600-58137200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:58137200-58138600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:58138200-58138800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:58138800-58139800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:58140000-58140200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:58140200-58140400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:58140600-58140800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:58143600-58144200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:58143600-58144200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:58143600-58144400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:58143600-58144400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr1:58143600-58144600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:58143600-58144600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr1:58143600-58145000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
18	chr1:58143800-58144200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:58143800-58144400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:58144200-58148600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:58144600-58144800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:58144600-58145600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:58145000-58148200	Weak transcription	Psoas Muscle	Psoas
24	chr1:58145600-58145800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:58145800-58146200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:58146200-58146600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:58146800-58147000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:58147000-58148600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:58147400-58148800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:58147400-58149200	Enhancers	Fetal Muscle Trunk	muscle
31	chr1:58147400-58149200	Enhancers	Fetal Muscle Leg	muscle
32	chr1:58147400-58149400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:58148000-58149600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:58148200-58148800	Enhancers	Psoas Muscle	Psoas
35	chr1:58148600-58148800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:58148600-58149200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:58148600-58149400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:58148600-58149400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:58148800-58149200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:58148800-58149200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:58148800-58149400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:58149000-58149200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:58149000-58149600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:58149000-58150600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:58149200-58149400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:58149600-58150200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:58149600-58150400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:58150200-58150400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:58150400-58150600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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