Variant report

Variant	esv3451617
Chromosome Location	chr5:112223580-112223920
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112221269..112223827-chr5:112227698..112230274,2	K562	blood:
2	chr5:112223765..112227904-chr5:112256681..112259724,3	K562	blood:
3	chr5:112220061..112222153-chr5:112223773..112225820,2	K562	blood:
4	chr5:112211665..112213695-chr5:112223485..112225532,2	K562	blood:
5	chr5:112223124..112224717-chr5:112225573..112227485,2	MCF-7	breast:
6	chr5:112199613..112201992-chr5:112222873..112225577,2	K562	blood:
7	chr5:112220653..112223281-chr5:112223773..112226525,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212643	chromatin interactions
ENSG00000153037	chromatin interactions
ENSG00000129625	chromatin interactions
ENSG00000249947	chromatin interactions
ENSG00000270067	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570231252	chr5:112223593-112223594	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs712663	chr5:112223594-112223595	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs712664	chr5:112223601-112223602	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs576868368	chr5:112223615-112223616	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540809134	chr5:112223687-112223688	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552916417	chr5:112223725-112223726	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140234565	chr5:112223764-112223765	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574120765	chr5:112223811-112223812	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs541691559	chr5:112223815-112223816	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs112331014	chr5:112223867-112223868	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs386404706	chr5:112223868-112223869	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs60080597	chr5:112223869-112223870	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs373146836	chr5:112223870-112223871	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112199000-112226000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
4	chr5:112208200-112225800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:112209600-112225000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:112209600-112226400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr5:112209600-112226800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:112209800-112224600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:112210600-112225000	Strong transcription	Liver	Liver
11	chr5:112210800-112225000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:112212400-112225200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:112212400-112225400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:112213000-112224600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:112213200-112229400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:112213800-112225000	Strong transcription	Fetal Intestine Large	intestine
23	chr5:112214000-112224400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:112214800-112226600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:112214800-112234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:112215200-112224800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:112215800-112223600	Strong transcription	NHEK	skin
30	chr5:112215800-112224800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:112215800-112225400	Strong transcription	GM12878-XiMat	blood
32	chr5:112215800-112226000	Strong transcription	A549	lung
33	chr5:112215800-112240400	Strong transcription	Primary B cells from cord blood	blood
34	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:112216000-112225000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:112216400-112226800	Strong transcription	Dnd41	blood
37	chr5:112217000-112223600	Strong transcription	HSMM	muscle
38	chr5:112217000-112223600	Strong transcription	NHDF-Ad	bronchial
39	chr5:112217400-112223600	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:112219800-112232200	Strong transcription	Fetal Intestine Small	intestine
41	chr5:112220000-112224400	Weak transcription	Right Atrium	heart
42	chr5:112221400-112237800	Weak transcription	Small Intestine	intestine
43	chr5:112221800-112225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:112221800-112231400	Weak transcription	Psoas Muscle	Psoas
45	chr5:112221800-112231800	Weak transcription	Stomach Mucosa	stomach
46	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:112222000-112231400	Weak transcription	Hela-S3	cervix
48	chr5:112222000-112233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:112222200-112229200	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links