Variant report

Variant	esv2754829
Chromosome Location	chr1:59197556-59215791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59212166..59214915-chr1:59219961..59222671,3	K562	blood:
2	chr1:59211377..59213683-chr1:59215503..59217817,3	K562	blood:
3	chr1:59196730..59199311-chr1:59246080..59248881,2	K562	blood:
4	chr1:59205299..59205941-chr1:59234715..59235436,3	K562	blood:
5	chr1:59211377..59213683-chr1:59215503..59217817,3	K562	blood:
6	chr1:59208456..59210688-chr1:59248484..59250989,2	MCF-7	breast:
7	chr1:59205270..59206206-chr1:59306901..59307819,2	K562	blood:
8	chr1:59205686..59206321-chr1:60164491..60165135,3	K562	blood:
9	chr1:59205290..59205895-chr1:59234644..59235180,2	MCF-7	breast:
10	chr1:59203533..59207535-chr1:59246122..59248670,4	K562	blood:
11	chr1:59208278..59211622-chr1:59243472..59246717,6	K562	blood:
12	chr1:59205237..59207339-chr1:59247903..59249965,2	MCF-7	breast:
13	chr1:59212166..59214810-chr1:59218835..59222671,3	K562	blood:
14	chr1:59205240..59206185-chr1:60224802..60225365,4	K562	blood:
15	chr1:59214840..59216632-chr1:59220643..59222898,2	K562	blood:
16	chr1:59208975..59211483-chr1:59245941..59247562,2	MCF-7	breast:
17	chr1:59200565..59206514-chr1:59243497..59250904,12	K562	blood:
18	chr1:59214317..59217323-chr1:59243104..59246296,3	K562	blood:
19	chr1:59194152..59196031-chr1:59196369..59198347,2	MCF-7	breast:
20	chr1:59200101..59201638-chr1:59243115..59244926,2	K562	blood:
21	chr1:59210973..59213100-chr1:59247438..59249913,3	K562	blood:
22	chr1:59199775..59201323-chr1:59248930..59250619,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177606	chromatin interactions
ENSG00000234807	chromatin interactions

Extended variants
information (count: 700 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7524931	chr1:59197556-59197557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185174710	chr1:59197636-59197637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538437019	chr1:59197687-59197688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2811862	chr1:59197724-59197725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6683199	chr1:59197752-59197753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12038704	chr1:59197753-59197754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1885934	chr1:59197782-59197783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547617491	chr1:59197786-59197787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565613830	chr1:59197817-59197818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536380289	chr1:59197824-59197825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12082356	chr1:59197830-59197831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189933396	chr1:59197855-59197856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554471977	chr1:59197895-59197896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374514648	chr1:59197910-59197911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533663563	chr1:59197928-59197929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553698487	chr1:59197956-59197957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182584667	chr1:59197957-59197958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149570205	chr1:59197964-59197965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72678813	chr1:59197970-59197971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576054140	chr1:59198071-59198072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188107024	chr1:59198100-59198101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144225526	chr1:59198156-59198157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80076151	chr1:59198164-59198165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191792999	chr1:59198170-59198171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374578090	chr1:59198177-59198178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139158216	chr1:59198179-59198180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375703600	chr1:59198195-59198196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534695337	chr1:59198198-59198199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114389067	chr1:59198238-59198239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183622507	chr1:59198276-59198277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568767778	chr1:59198289-59198290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531509925	chr1:59198315-59198316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559284552	chr1:59198321-59198322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545411156	chr1:59198369-59198370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577658557	chr1:59198397-59198398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116186124	chr1:59198417-59198418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143083665	chr1:59198418-59198419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188679552	chr1:59198433-59198434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577976927	chr1:59198470-59198471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147406367	chr1:59198492-59198493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570601496	chr1:59198555-59198556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192344326	chr1:59198600-59198601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556196628	chr1:59198604-59198605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538916183	chr1:59198618-59198619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139626112	chr1:59198649-59198650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10889115	chr1:59198674-59198675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs374626678	chr1:59198709-59198710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184767883	chr1:59198719-59198720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186562099	chr1:59198729-59198730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34930237	chr1:59198734-59198735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59183400-59197600	Weak transcription	Aorta	Aorta
2	chr1:59192600-59204200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:59193600-59197800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:59193600-59200200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:59193800-59197600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:59193800-59197600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:59194400-59197600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:59194400-59197600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:59194400-59197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:59194400-59197600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:59194400-59197600	Weak transcription	HMEC	breast
12	chr1:59194400-59197600	Weak transcription	NHDF-Ad	bronchial
13	chr1:59194400-59197800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:59197200-59198800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:59197400-59198200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:59197400-59198400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:59197400-59198400	Enhancers	NHEK	skin
18	chr1:59197400-59198600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:59197400-59198600	Enhancers	Osteobl	bone
20	chr1:59197400-59198800	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:59197600-59198000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:59197600-59198200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:59197600-59198200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:59197600-59198200	Enhancers	HMEC	breast
25	chr1:59197600-59198400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:59197600-59198400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:59197600-59198400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:59197600-59198400	Enhancers	Aorta	Aorta
29	chr1:59197600-59198400	Enhancers	Colon Smooth Muscle	Colon
30	chr1:59197600-59198400	Enhancers	Gastric	stomach
31	chr1:59197600-59198400	Enhancers	Ovary	ovary
32	chr1:59197600-59198400	Enhancers	NHDF-Ad	bronchial
33	chr1:59197800-59198400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:59197800-59198800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:59198000-59198400	Enhancers	Fetal Heart	heart
36	chr1:59198000-59200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:59198200-59200000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:59198200-59201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:59198200-59206200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:59198400-59199800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:59198400-59200200	Weak transcription	NHDF-Ad	bronchial
42	chr1:59198600-59205800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:59198800-59204000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:59198800-59207200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:59200000-59200400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:59200200-59200400	Enhancers	NHDF-Ad	bronchial
47	chr1:59200400-59205800	Weak transcription	NHDF-Ad	bronchial
48	chr1:59200600-59201000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:59201000-59204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:59201200-59201800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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