Variant report

Variant	esv2754702
Chromosome Location	chr1:57716116-57743244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:57730131..57732253-chr1:57733459..57735865,2	K562	blood:
2	chr1:57649341..57651163-chr1:57723010..57724973,2	K562	blood:
3	chr1:57710451..57711985-chr1:57716837..57718696,2	MCF-7	breast:
4	chr1:57729389..57732670-chr1:57736869..57739478,3	K562	blood:
5	chr1:57729389..57732670-chr1:57736869..57739478,3	K562	blood:
6	chr1:57730131..57732253-chr1:57733459..57735865,2	K562	blood:
7	chr1:57683471..57685888-chr1:57717054..57719218,2	K562	blood:

Extended variants
information (count: 1006 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1345927	chr1:57716116-57716117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550675809	chr1:57716135-57716136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs593154	chr1:57716139-57716140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530690252	chr1:57716202-57716203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536520021	chr1:57716203-57716204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553673925	chr1:57716301-57716302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567058808	chr1:57716321-57716322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79348381	chr1:57716366-57716367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35741456	chr1:57716370-57716371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559204883	chr1:57716387-57716388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145485671	chr1:57716429-57716430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183116646	chr1:57716475-57716476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185542913	chr1:57716484-57716485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs492905	chr1:57716485-57716486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373217828	chr1:57716539-57716540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190397315	chr1:57716542-57716543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560442785	chr1:57716558-57716559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532275782	chr1:57716578-57716579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs493846	chr1:57716579-57716580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562355589	chr1:57716635-57716636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530881593	chr1:57716657-57716658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182822245	chr1:57716663-57716664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs515802	chr1:57716685-57716686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530156940	chr1:57716750-57716751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546681760	chr1:57716759-57716760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567129939	chr1:57716766-57716767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539356972	chr1:57716767-57716768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61765653	chr1:57716793-57716794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs578066141	chr1:57716843-57716844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569499966	chr1:57716846-57716847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537528397	chr1:57716857-57716858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557243563	chr1:57716858-57716859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34187953	chr1:57716916-57716917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187489054	chr1:57716931-57716932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569535310	chr1:57716986-57716987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376278753	chr1:57716987-57716988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533733819	chr1:57717031-57717032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372208837	chr1:57717048-57717049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193244955	chr1:57717062-57717063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576689636	chr1:57717066-57717067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147277843	chr1:57717068-57717069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562330906	chr1:57717076-57717077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79075952	chr1:57717082-57717083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373924330	chr1:57717103-57717104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544379871	chr1:57717174-57717175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184088920	chr1:57717201-57717202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12088999	chr1:57717203-57717204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187694340	chr1:57717204-57717205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192354811	chr1:57717296-57717297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570743810	chr1:57717337-57717338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57712400-57718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57712400-57728000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:57712600-57727800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57712800-57731200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:57715200-57716600	Enhancers	Fetal Brain Female	brain
6	chr1:57715200-57718400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:57715800-57718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:57716600-57718800	Weak transcription	Fetal Brain Female	brain
9	chr1:57717000-57717400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:57717000-57718200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:57717200-57717800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:57717200-57726200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:57717400-57717800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:57717400-57717800	Enhancers	Fetal Brain Male	brain
15	chr1:57717400-57718400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:57717800-57718800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:57717800-57718800	Weak transcription	Fetal Brain Male	brain
18	chr1:57717800-57719000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:57718200-57718600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:57718200-57720400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:57718400-57719000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:57718400-57719200	Enhancers	NHDF-Ad	bronchial
23	chr1:57718400-57720200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:57718400-57720200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:57718600-57718800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:57718600-57719000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:57718600-57719000	Enhancers	Right Ventricle	heart
28	chr1:57718600-57719200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:57718600-57720000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:57718800-57719000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:57718800-57719200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:57718800-57719600	Enhancers	Fetal Brain Female	brain
33	chr1:57718800-57720400	Enhancers	Fetal Brain Male	brain
34	chr1:57718800-57727800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:57719000-57719200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:57719200-57720000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:57719600-57720200	Weak transcription	Fetal Brain Female	brain
38	chr1:57719800-57720400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:57720000-57720200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:57720200-57720400	Enhancers	Fetal Brain Female	brain
41	chr1:57720400-57723200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:57720400-57724000	Weak transcription	Fetal Brain Male	brain
43	chr1:57720400-57724000	Weak transcription	Fetal Brain Female	brain
44	chr1:57722800-57723000	Enhancers	Brain Angular Gyrus	brain
45	chr1:57723000-57724600	Weak transcription	Brain Angular Gyrus	brain
46	chr1:57723200-57724000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:57724000-57725400	Enhancers	Fetal Brain Male	brain
48	chr1:57724000-57726000	Enhancers	Fetal Brain Female	brain
49	chr1:57724400-57726200	Enhancers	Brain Anterior Caudate	brain
50	chr1:57724400-57726400	Enhancers	Cortex derived primary cultured neurospheres	brain

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