Variant report

Variant	esv1831804
Chromosome Location	chr1:74856263-74879770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:74868917..74870654-chr1:74871411..74874146,2	K562	blood:
2	chr1:74867146..74867864-chr13:25216133..25216958,2	MCF-7	breast:
3	chr1:74868917..74870654-chr1:74871411..74874146,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-7	chr1:74859668-74864369	ucscGeneNc_uc001dgh_2

Extended variants
information (count: 897 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533920265	chr1:74856290-74856291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6424589	chr1:74856360-74856361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577414655	chr1:74856373-74856374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35057716	chr1:74856377-74856378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538537748	chr1:74856404-74856405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556445016	chr1:74856489-74856490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537077041	chr1:74856498-74856499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199888459	chr1:74856648-74856649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375940833	chr1:74856649-74856650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386367349	chr1:74856650-74856651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386367350	chr1:74856662-74856663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10672464	chr1:74856663-74856664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7530846	chr1:74856705-74856706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190090136	chr1:74856724-74856725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141966875	chr1:74856733-74856734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72673296	chr1:74856736-74856737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145865241	chr1:74856796-74856797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181232454	chr1:74856881-74856882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72673297	chr1:74856883-74856884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186507941	chr1:74856968-74856969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562516459	chr1:74856990-74856991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7523296	chr1:74856995-74856996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191440584	chr1:74857084-74857085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180709657	chr1:74857088-74857089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200526641	chr1:74857091-74857092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72966927	chr1:74857092-74857093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376982729	chr1:74857101-74857102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185149634	chr1:74857106-74857107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190793870	chr1:74857132-74857133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538127178	chr1:74857186-74857187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556793124	chr1:74857191-74857192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568692917	chr1:74857226-74857227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536046617	chr1:74857250-74857251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183386497	chr1:74857265-74857266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559637873	chr1:74857279-74857280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572927708	chr1:74857294-74857295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188601136	chr1:74857313-74857314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558234566	chr1:74857325-74857326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375169086	chr1:74857347-74857348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576795376	chr1:74857492-74857493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543896928	chr1:74857499-74857500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562787425	chr1:74857500-74857501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529979548	chr1:74857626-74857627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145350268	chr1:74857638-74857639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12759652	chr1:74857644-74857645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112966537	chr1:74857647-74857648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559009400	chr1:74857650-74857651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34656417	chr1:74857667-74857668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574691636	chr1:74857672-74857673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527742923	chr1:74857688-74857689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74845200-74860800	Weak transcription	Right Ventricle	heart
2	chr1:74855600-74857800	Weak transcription	Fetal Heart	heart
3	chr1:74856800-74857000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:74857000-74858000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:74857800-74858000	Enhancers	Ovary	ovary
6	chr1:74857800-74858200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:74857800-74858400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:74857800-74858600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:74857800-74858600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:74857800-74858600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:74857800-74860200	Enhancers	Fetal Heart	heart
12	chr1:74858000-74858400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:74858000-74858600	Enhancers	Stomach Smooth Muscle	stomach
14	chr1:74858000-74858800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:74858000-74859000	Enhancers	Fetal Stomach	stomach
16	chr1:74858000-74859400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:74858000-74860400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:74858000-74861000	Weak transcription	Ovary	ovary
19	chr1:74858000-74863400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:74858200-74859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:74858200-74861200	Weak transcription	Brain Germinal Matrix	brain
22	chr1:74858400-74858600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:74858400-74858800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:74858400-74859400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:74858600-74858800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:74858600-74858800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:74858600-74859600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:74858800-74859000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:74858800-74859600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:74858800-74860200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:74859000-74859400	Weak transcription	Fetal Stomach	stomach
32	chr1:74859000-74861400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:74859400-74859600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:74859400-74859600	Weak transcription	Left Ventricle	heart
35	chr1:74859400-74859800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:74859400-74859800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:74859400-74859800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:74859400-74863800	Enhancers	Fetal Stomach	stomach
39	chr1:74859600-74859800	Enhancers	Left Ventricle	heart
40	chr1:74859600-74860000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:74859600-74860200	Enhancers	Fetal Lung	lung
42	chr1:74859600-74861600	Enhancers	Adipose Nuclei	Adipose
43	chr1:74859600-74863200	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:74859800-74860200	Enhancers	Fetal Kidney	kidney
45	chr1:74859800-74860800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:74859800-74860800	Weak transcription	Left Ventricle	heart
47	chr1:74859800-74861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:74859800-74862200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:74860200-74860600	Weak transcription	Fetal Heart	heart
50	chr1:74860200-74860600	Weak transcription	Fetal Lung	lung

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