Variant report

Variant	esv3360957
Chromosome Location	chr1:59172638-59175090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59174019..59176755-chr1:59180652..59182494,2	K562	blood:
2	chr1:59171897..59173602-chr1:59249011..59250824,2	K562	blood:
3	chr1:59160810..59163384-chr1:59173119..59175841,2	K562	blood:

Variant related genes	Relation type
ENSG00000177606	chromatin interactions
ENSG00000234807	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138265901	chr1:59172665-59172666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115478109	chr1:59172713-59172714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs191521908	chr1:59172772-59172773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs143915307	chr1:59172773-59172774	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs4612650	chr1:59172792-59172793	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs551821251	chr1:59172803-59172804	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568599710	chr1:59172824-59172825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375973259	chr1:59172948-59172949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs111769586	chr1:59172950-59172951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150630347	chr1:59172993-59172994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112634289	chr1:59173013-59173014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536902333	chr1:59173023-59173024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs111641177	chr1:59173040-59173041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182601437	chr1:59173062-59173063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113713857	chr1:59173103-59173104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559222890	chr1:59173107-59173108	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs111587538	chr1:59173142-59173143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs10889113	chr1:59173187-59173188	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528480125	chr1:59173202-59173203	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554963379	chr1:59173220-59173221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs574744771	chr1:59173222-59173223	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs550554930	chr1:59173226-59173227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11430049	chr1:59173227-59173228	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74358302	chr1:59173234-59173235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs397733467	chr1:59173245-59173246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs540493681	chr1:59173249-59173250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs367952729	chr1:59173308-59173309	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560202321	chr1:59173340-59173341	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs4912375	chr1:59173358-59173359	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545574255	chr1:59173403-59173404	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565639137	chr1:59173414-59173415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531298374	chr1:59173474-59173475	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547883274	chr1:59173510-59173511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs144135927	chr1:59173517-59173518	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111755675	chr1:59173527-59173528	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs547400251	chr1:59173592-59173593	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs72144818	chr1:59173614-59173615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375680042	chr1:59173615-59173616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569047314	chr1:59173633-59173634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539387411	chr1:59173640-59173641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559185991	chr1:59173644-59173645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398049306	chr1:59173654-59173655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59359881	chr1:59173655-59173656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539902215	chr1:59173659-59173660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569481765	chr1:59173669-59173670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139793040	chr1:59173755-59173756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374900180	chr1:59173775-59173776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555124235	chr1:59173799-59173800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536017397	chr1:59173823-59173824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112556554	chr1:59173835-59173836	Weak transcription 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
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
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59166000-59176200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:59166200-59176200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:59166400-59186200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:59168400-59173600	Weak transcription	Fetal Brain Male	brain
5	chr1:59168600-59174200	Weak transcription	Fetal Brain Female	brain
6	chr1:59170800-59173600	Weak transcription	HepG2	liver
7	chr1:59170800-59173800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:59170800-59176400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:59171000-59173600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:59171000-59175200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:59171000-59175200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:59171000-59175400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:59171000-59175600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:59171200-59173600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:59171200-59175000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:59171200-59175400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:59171200-59175800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:59171200-59177800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:59173400-59174000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:59173600-59174000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:59173600-59174000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:59173600-59174200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:59173600-59174400	Enhancers	HepG2	liver
24	chr1:59173600-59177200	Enhancers	Fetal Brain Male	brain
25	chr1:59173800-59174800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:59174000-59175600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:59174000-59175800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:59174200-59176600	Enhancers	Fetal Brain Female	brain
29	chr1:59174400-59176400	Weak transcription	HepG2	liver
30	chr1:59174600-59174800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:59174800-59176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:59175000-59176800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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