Variant report

Variant	esv2762520
Chromosome Location	chr5:57557770-57578659
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57576927..57581899-chr5:57754335..57757420,4	MCF-7	breast:
2	chr5:57564755..57567505-chr5:57575304..57577726,2	MCF-7	breast:
3	chr5:57567929..57569479-chr5:57754870..57757250,2	MCF-7	breast:
4	chr5:57555945..57557845-chr5:57750518..57752706,2	MCF-7	breast:
5	chr5:57551727..57557881-chr5:57751726..57757187,9	MCF-7	breast:
6	chr5:57553683..57556320-chr5:57556923..57559469,3	MCF-7	breast:
7	chr5:57560759..57562521-chr5:57565153..57567318,2	MCF-7	breast:
8	chr5:57560197..57562676-chr5:57754273..57756168,2	MCF-7	breast:
9	chr5:57564755..57567505-chr5:57575304..57577726,2	MCF-7	breast:
10	chr5:57560759..57562521-chr5:57565153..57567318,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 783 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562011833	chr5:57557779-57557780	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140644544	chr5:57557806-57557807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs16887978	chr5:57557821-57557822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543578738	chr5:57557848-57557849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558679150	chr5:57557860-57557861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs578237261	chr5:57557870-57557871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182985634	chr5:57557876-57557877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560440338	chr5:57557917-57557918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573829525	chr5:57557926-57557927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200317573	chr5:57557932-57557933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144407452	chr5:57557936-57557937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529289755	chr5:57557981-57557982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6867001	chr5:57558021-57558022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs531586306	chr5:57558055-57558056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549908852	chr5:57558060-57558061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187149568	chr5:57558066-57558067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371662717	chr5:57558083-57558084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560532099	chr5:57558122-57558123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532429255	chr5:57558212-57558213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547582378	chr5:57558288-57558289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141294338	chr5:57558305-57558306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536573661	chr5:57558311-57558312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554549605	chr5:57558363-57558364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569675995	chr5:57558426-57558427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2910590	chr5:57558457-57558458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558543912	chr5:57558500-57558501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189582364	chr5:57558502-57558503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35680775	chr5:57558532-57558533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182275676	chr5:57558571-57558572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534672483	chr5:57558577-57558578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187552084	chr5:57558585-57558586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554366621	chr5:57558612-57558613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs36066668	chr5:57558631-57558632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572527746	chr5:57558641-57558642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10077783	chr5:57558647-57558648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547771897	chr5:57558774-57558775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116327636	chr5:57558795-57558796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543417995	chr5:57558840-57558841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192542338	chr5:57558864-57558865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10079643	chr5:57558885-57558886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547550384	chr5:57558953-57558954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559532628	chr5:57558967-57558968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564545701	chr5:57559095-57559096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372955411	chr5:57559118-57559119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569970725	chr5:57559122-57559123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114219930	chr5:57559127-57559128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34421173	chr5:57559244-57559245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397728820	chr5:57559257-57559258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552220018	chr5:57559302-57559303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10037463	chr5:57559377-57559378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57554400-57557800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:57555600-57558000	Enhancers	Fetal Heart	heart
3	chr5:57556000-57557800	Enhancers	HUVEC	blood vessel
4	chr5:57556000-57558000	Enhancers	NHEK	skin
5	chr5:57556200-57558800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:57556400-57561200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:57556600-57558200	Enhancers	A549	lung
8	chr5:57556800-57558400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:57557000-57557800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:57557000-57558000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr5:57557000-57558000	Enhancers	Fetal Lung	lung
12	chr5:57557000-57558000	Enhancers	NH-A	brain
13	chr5:57557000-57558200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:57557000-57558400	Enhancers	Osteobl	bone
15	chr5:57557000-57559000	Enhancers	NHDF-Ad	bronchial
16	chr5:57557200-57557800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:57557200-57558000	Enhancers	HMEC	breast
18	chr5:57557200-57558200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:57557200-57558600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:57557200-57558800	Enhancers	NHLF	lung
21	chr5:57557400-57557800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:57557400-57557800	Enhancers	Fetal Muscle Leg	muscle
23	chr5:57557400-57557800	Enhancers	Fetal Stomach	stomach
24	chr5:57557400-57557800	Enhancers	Right Atrium	heart
25	chr5:57557400-57558000	Enhancers	HSMM	muscle
26	chr5:57557400-57558200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:57557400-57558400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:57557400-57558600	Enhancers	Aorta	Aorta
29	chr5:57557400-57558800	Enhancers	HSMMtube	muscle
30	chr5:57557400-57559000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:57557600-57557800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:57557600-57558200	Enhancers	Adipose Nuclei	Adipose
33	chr5:57557800-57560200	Weak transcription	Right Atrium	heart
34	chr5:57557800-57562200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:57557800-57562200	Weak transcription	HUVEC	blood vessel
36	chr5:57558200-57560200	Weak transcription	Adipose Nuclei	Adipose
37	chr5:57558200-57561400	Weak transcription	A549	lung
38	chr5:57558800-57560800	Weak transcription	NHLF	lung
39	chr5:57558800-57561200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:57559000-57563600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:57560000-57560200	Enhancers	Fetal Muscle Leg	muscle
42	chr5:57560200-57560400	Enhancers	Adipose Nuclei	Adipose
43	chr5:57560200-57560400	Enhancers	Fetal Heart	heart
44	chr5:57560200-57560400	Enhancers	Right Atrium	heart
45	chr5:57561200-57561400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:57561200-57561400	Enhancers	NHLF	lung
47	chr5:57561200-57561600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:57561400-57562600	Enhancers	A549	lung
49	chr5:57562200-57562600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:57562200-57562800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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