Variant report

Variant	esv3489101
Chromosome Location	chr5:57545689-57669673
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:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:57625727..57627768-chr5:57755751..57757358,2	MCF-7	breast:
2	chr5:57635868..57638066-chr5:57754856..57757092,2	MCF-7	breast:
3	chr5:57633495..57635732-chr5:57754528..57757073,2	MCF-7	breast:
4	chr5:57626809..57628969-chr5:57631337..57632977,2	MCF-7	breast:
5	chr5:57659417..57661558-chr5:57689608..57691662,2	MCF-7	breast:
6	chr5:57626809..57628969-chr5:57631337..57632977,2	MCF-7	breast:
7	chr5:57619632..57622080-chr5:57627168..57629517,2	K562	blood:
8	chr5:57482131..57485678-chr5:57554046..57557182,5	MCF-7	breast:
9	chr5:57666483..57668447-chr5:57747983..57749992,2	MCF-7	breast:
10	chr5:57560197..57562676-chr5:57754273..57756168,2	MCF-7	breast:
11	chr5:57546757..57549531-chr5:57552284..57556177,4	MCF-7	breast:
12	chr5:57626348..57628340-chr5:57631226..57633135,2	MCF-7	breast:
13	chr5:57618594..57622607-chr5:57622737..57625400,3	MCF-7	breast:
14	chr5:57620445..57622080-chr5:57625868..57628668,2	K562	blood:
15	chr5:57553536..57556295-chr5:57753554..57756650,6	MCF-7	breast:
16	chr5:57531620..57533585-chr5:57553744..57556130,2	MCF-7	breast:
17	chr1:195514419..195515039-chr5:57606225..57606777,2	MCF-7	breast:
18	chr5:57657859..57660556-chr5:57662293..57664197,2	K562	blood:
19	chr5:57654875..57656894-chr5:57657997..57659625,2	MCF-7	breast:
20	chr5:57560759..57562521-chr5:57565153..57567318,2	MCF-7	breast:
21	chr5:57589779..57592540-chr5:57753522..57755652,2	MCF-7	breast:
22	chr5:57662265..57664102-chr5:57743595..57746486,2	MCF-7	breast:
23	chr5:57607237..57609695-chr5:57612887..57615120,2	MCF-7	breast:
24	chr5:57620555..57622771-chr5:57753683..57755944,2	MCF-7	breast:
25	chr5:57609295..57611170-chr5:57616223..57618224,2	MCF-7	breast:
26	chr5:57620445..57622080-chr5:57625868..57628668,2	K562	blood:
27	chr5:57632573..57635703-chr5:57754425..57757098,5	MCF-7	breast:
28	chr5:57567929..57569479-chr5:57754870..57757250,2	MCF-7	breast:
29	chr5:57640162..57641929-chr5:57650498..57652740,2	MCF-7	breast:
30	chr5:57607951..57610454-chr5:57754515..57756125,2	MCF-7	breast:
31	chr5:57618594..57622607-chr5:57622737..57625400,3	MCF-7	breast:
32	chr5:57553683..57556320-chr5:57556923..57559469,3	MCF-7	breast:
33	chr5:57593178..57594963-chr5:57600023..57602248,2	MCF-7	breast:
34	chr5:57551727..57557881-chr5:57751726..57757187,9	MCF-7	breast:
35	chr5:57657859..57660556-chr5:57662293..57664197,2	K562	blood:
36	chr5:57607237..57609695-chr5:57612887..57615120,2	MCF-7	breast:
37	chr5:57656384..57658346-chr5:57754489..57756599,3	MCF-7	breast:
38	chr5:57621075..57624640-chr5:57754199..57756041,3	MCF-7	breast:
39	chr5:57553683..57556320-chr5:57556923..57559469,3	MCF-7	breast:
40	chr5:57626348..57628340-chr5:57631226..57633135,2	MCF-7	breast:
41	chr5:57660346..57663581-chr5:57663913..57666840,3	MCF-7	breast:
42	chr5:57550054..57551732-chr5:57553774..57557457,3	K562	blood:
43	chr5:57543326..57547430-chr5:57753022..57757263,5	MCF-7	breast:
44	chr5:57564755..57567505-chr5:57575304..57577726,2	MCF-7	breast:
45	chr5:57660704..57663602-chr5:57753863..57756016,3	MCF-7	breast:
46	chr5:57560759..57562521-chr5:57565153..57567318,2	MCF-7	breast:
47	chr5:57627214..57628849-chr5:57750914..57753028,2	MCF-7	breast:
48	chr5:57546757..57549531-chr5:57552284..57556177,4	MCF-7	breast:
49	chr5:57576927..57581899-chr5:57754335..57757420,4	MCF-7	breast:
50	chr5:57555945..57557845-chr5:57750518..57752706,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 3975 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3975 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75566486	chr5:57545689-57545690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74961702	chr5:57545742-57545743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs972060	chr5:57545744-57545745	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576599001	chr5:57545821-57545822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543990322	chr5:57545836-57545837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185618995	chr5:57545880-57545881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532847220	chr5:57545911-57545912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541294545	chr5:57545932-57545933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76221391	chr5:57545933-57545934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372437731	chr5:57545943-57545944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530018126	chr5:57545960-57545961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568549446	chr5:57546001-57546002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532105052	chr5:57546008-57546009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9784640	chr5:57546015-57546016	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114881575	chr5:57546018-57546019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147123635	chr5:57546023-57546024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536476469	chr5:57546025-57546026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552352720	chr5:57546037-57546038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570512744	chr5:57546080-57546081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563427894	chr5:57546097-57546098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548424067	chr5:57546098-57546099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566612525	chr5:57546106-57546107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534938305	chr5:57546140-57546141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573878188	chr5:57546183-57546184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553281661	chr5:57546267-57546268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568096868	chr5:57546269-57546270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34830719	chr5:57546298-57546299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs398108970	chr5:57546299-57546300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs202066165	chr5:57546305-57546306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528622834	chr5:57546309-57546310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs202041063	chr5:57546311-57546312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539651893	chr5:57546322-57546323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs578007878	chr5:57546350-57546351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75741008	chr5:57546355-57546356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190442096	chr5:57546363-57546364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138461312	chr5:57546381-57546382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558025024	chr5:57546412-57546413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs67873678	chr5:57546449-57546450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559118803	chr5:57546460-57546461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116660015	chr5:57546501-57546502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372627133	chr5:57546502-57546503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541355525	chr5:57546591-57546592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559604837	chr5:57546599-57546600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141958411	chr5:57546621-57546622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555763287	chr5:57546679-57546680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs56694550	chr5:57546680-57546681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs397939968	chr5:57546687-57546688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181438769	chr5:57546710-57546711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563489337	chr5:57546750-57546751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113622971	chr5:57546751-57546752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57534800-57555200	Weak transcription	Left Ventricle	heart
2	chr5:57541200-57547000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:57543000-57555600	Weak transcription	Right Atrium	heart
4	chr5:57543200-57552000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:57547000-57547200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:57547200-57554600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:57548800-57549200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:57549000-57549400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:57549200-57554600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:57551800-57552000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:57551800-57552200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:57551800-57552200	Enhancers	HMEC	breast
13	chr5:57552000-57552600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:57552200-57554400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:57552200-57554400	Weak transcription	HMEC	breast
16	chr5:57552400-57552600	Enhancers	Aorta	Aorta
17	chr5:57552600-57553800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:57552600-57557400	Weak transcription	Aorta	Aorta
19	chr5:57553800-57554000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:57553800-57554000	Enhancers	NH-A	brain
21	chr5:57553800-57555200	Enhancers	HUVEC	blood vessel
22	chr5:57553800-57555200	Enhancers	NHEK	skin
23	chr5:57553800-57555600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:57553800-57556400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:57554000-57554600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:57554000-57555000	Weak transcription	NH-A	brain
27	chr5:57554000-57555200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:57554200-57554600	Enhancers	A549	lung
29	chr5:57554200-57556600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:57554400-57555000	Enhancers	HMEC	breast
31	chr5:57554400-57555200	Enhancers	Hela-S3	cervix
32	chr5:57554400-57555600	Enhancers	HSMM	muscle
33	chr5:57554400-57556800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:57554400-57557800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:57554600-57554800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr5:57554600-57555000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:57554600-57555200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:57554600-57555200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:57554600-57555400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:57554600-57555600	Flanking Active TSS	A549	lung
41	chr5:57554600-57556000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:57554800-57555200	Enhancers	NHLF	lung
43	chr5:57554800-57556000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:57554800-57556200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:57555000-57555200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:57555000-57555200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:57555000-57555200	Enhancers	Osteobl	bone
48	chr5:57555000-57555400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:57555000-57555400	Enhancers	NH-A	brain
50	chr5:57555000-57556200	Flanking Active TSS	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links