Variant report

Variant	esv2829846
Chromosome Location	chr5:111341445-111435769
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:111398563..111400381-chr5:111401714..111404187,2	K562	blood:
2	chr5:111427178..111429315-chr5:111442008..111443800,2	K562	blood:
3	chr5:111398563..111400381-chr5:111401714..111404187,2	K562	blood:
4	chr5:111400696..111402728-chr5:111496476..111498260,2	K562	blood:
5	chr5:111338145..111340158-chr5:111345203..111347809,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAMK4-2	chr5:111352837-111353003	ENSG00000250095.1
2	lnc-CAMK4-2	chr5:111352837-111353006	ENSG00000250095.1

No data

Variant related genes	Relation type
ENSG00000238363	chromatin interactions
ENSG00000224032	chromatin interactions

Extended variants
information (count: 1685 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1685 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs26563	chr5:111341445-111341446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573891640	chr5:111341471-111341472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544338158	chr5:111341486-111341487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562623128	chr5:111341563-111341564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533227264	chr5:111341648-111341649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545090998	chr5:111341723-111341724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62370354	chr5:111341724-111341725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528379038	chr5:111341768-111341769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369045631	chr5:111341795-111341796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28101	chr5:111341797-111341798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138687056	chr5:111341803-111341804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141100546	chr5:111341886-111341887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540182900	chr5:111341925-111341926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113854598	chr5:111341929-111341930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560845032	chr5:111341930-111341931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368730532	chr5:111342021-111342022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189242633	chr5:111342053-111342054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182194053	chr5:111342055-111342056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568994011	chr5:111342077-111342078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564064293	chr5:111342109-111342110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374800933	chr5:111342155-111342156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539506454	chr5:111342243-111342244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557474555	chr5:111342269-111342270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575174659	chr5:111342292-111342293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371851838	chr5:111342293-111342294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566414241	chr5:111342304-111342305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs255928	chr5:111342333-111342334	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556013683	chr5:111342378-111342379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573926857	chr5:111342417-111342418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549001993	chr5:111342452-111342453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13189380	chr5:111342481-111342482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146963078	chr5:111342495-111342496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575666169	chr5:111342533-111342534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17316691	chr5:111342545-111342546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545436938	chr5:111342587-111342588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55684472	chr5:111342594-111342595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs137963527	chr5:111342603-111342604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78329472	chr5:111342616-111342617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540194320	chr5:111342671-111342672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561940564	chr5:111342672-111342673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28162	chr5:111342710-111342711	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550809585	chr5:111342731-111342732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569032604	chr5:111342738-111342739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533060695	chr5:111342789-111342790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551450309	chr5:111342791-111342792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149511926	chr5:111342795-111342796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533764549	chr5:111342822-111342823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555036960	chr5:111342833-111342834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567637519	chr5:111342834-111342835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74404617	chr5:111342845-111342846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111337200-111342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:111338000-111343000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:111339600-111343600	Enhancers	Osteobl	bone
4	chr5:111339800-111341600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:111339800-111343200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:111339800-111343200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:111340000-111341600	Enhancers	HMEC	breast
8	chr5:111340000-111341600	Enhancers	HSMM	muscle
9	chr5:111340000-111342800	Enhancers	NHLF	lung
10	chr5:111340000-111343000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:111340200-111341600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:111340200-111341600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:111340200-111341600	Enhancers	NHEK	skin
14	chr5:111340200-111343200	Enhancers	NH-A	brain
15	chr5:111340800-111341600	Enhancers	Adipose Nuclei	Adipose
16	chr5:111340800-111341600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:111341000-111343000	Enhancers	NHDF-Ad	bronchial
18	chr5:111341200-111342400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:111341400-111342400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:111341400-111342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:111341400-111342600	Weak transcription	HSMMtube	muscle
22	chr5:111341400-111342800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:111341600-111342600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:111341600-111342600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:111341600-111342600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:111341600-111342600	Weak transcription	HMEC	breast
27	chr5:111341600-111342600	Weak transcription	NHEK	skin
28	chr5:111341600-111349200	Weak transcription	Adipose Nuclei	Adipose
29	chr5:111342000-111346400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:111342400-111342800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:111342400-111343000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:111342600-111342800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:111342600-111342800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:111342600-111342800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:111342600-111342800	Enhancers	HMEC	breast
36	chr5:111342600-111342800	Enhancers	NHEK	skin
37	chr5:111342600-111343000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:111342600-111343000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:111342600-111343000	Enhancers	Placenta	Placenta
40	chr5:111342600-111343000	Enhancers	HUVEC	blood vessel
41	chr5:111342800-111343000	Enhancers	HSMMtube	muscle
42	chr5:111342800-111347600	Weak transcription	NHLF	lung
43	chr5:111342800-111347800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:111343000-111343200	Enhancers	Fetal Stomach	stomach
45	chr5:111343000-111346200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:111343000-111347600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:111343000-111347600	Weak transcription	NHDF-Ad	bronchial
48	chr5:111343000-111348000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:111343200-111346600	Weak transcription	Fetal Stomach	stomach
50	chr5:111343200-111347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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