Variant report

Variant	esv18181
Chromosome Location	chr5:112217824-112218717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:112218181-112218194	MCF-7	breast:	n/a	n/a
2	POLR2A	chr5:112218240-112218251	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:112218204-112218227	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:112218163-112218175	MCF-7	breast:	n/a	n/a
5	POLR2A	chr5:112218330-112218390	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:112218262-112218275	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:112218244-112218414	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:112218418-112218778	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr5:112218431-112218737	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:112218431-112218452	MCF-7	breast:	n/a	n/a
11	POLR2A	chr5:112217968-112218835	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr5:112218206-112218324	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:112218475-112218486	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:112217791-112218190	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:112217858-112219262	K562	blood:	n/a	n/a
16	POLR2A	chr5:112218399-112218418	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:112218295-112218324	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:112217828-112218274	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112195269..112200241-chr5:112214225..112218967,7	MCF-7	breast:
2	chr5:112213405..112216248-chr5:112216805..112218995,2	K562	blood:
3	chr5:112213045..112215334-chr5:112215360..112217961,2	K562	blood:

No data

Variant related genes	Relation type
XBP1P1	TF binding region
ENSG00000272869	chromatin interactions
ENSG00000153037	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12152991	chr5:112217829-112217830	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571720938	chr5:112217830-112217831	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs185559204	chr5:112217838-112217839	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs542804817	chr5:112217884-112217885	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs76033445	chr5:112217944-112217945	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs548568654	chr5:112217958-112217959	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs67293732	chr5:112217964-112217965	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs576086149	chr5:112217980-112217981	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs545068556	chr5:112217992-112217993	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs144501924	chr5:112217996-112217997	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs368196271	chr5:112218046-112218047	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs189974951	chr5:112218081-112218082	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs571017736	chr5:112218203-112218204	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534857018	chr5:112218288-112218289	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs553525567	chr5:112218304-112218305	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs73220063	chr5:112218316-112218317	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535515623	chr5:112218321-112218322	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs556662061	chr5:112218358-112218359	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs1093611	chr5:112218476-112218477	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs545405810	chr5:112218587-112218588	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs78758445	chr5:112218594-112218595	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs148420642	chr5:112218620-112218621	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs559723426	chr5:112218659-112218660	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs111721283	chr5:112218680-112218681	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs1093677	chr5:112218700-112218701	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs529104650	chr5:112218713-112218714	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112198400-112220600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:112199000-112226000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:112203400-112218200	Weak transcription	Colonic Mucosa	Colon
5	chr5:112206200-112218400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
7	chr5:112206600-112219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:112206600-112219800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:112206800-112220800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:112206800-112220800	Weak transcription	Ovary	ovary
11	chr5:112208200-112225800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:112209600-112225000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:112209600-112226400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr5:112209600-112226800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:112209800-112218600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:112209800-112224600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:112210600-112218200	Weak transcription	Psoas Muscle	Psoas
19	chr5:112210600-112225000	Strong transcription	Liver	Liver
20	chr5:112210800-112225000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:112211200-112222600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:112211800-112223400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:112212400-112220200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:112212400-112225200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:112212400-112225400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:112213000-112223000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:112213000-112223200	Strong transcription	Fetal Lung	lung
34	chr5:112213000-112223200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr5:112213000-112224600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:112213200-112222800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr5:112213200-112223200	Strong transcription	Brain Germinal Matrix	brain
38	chr5:112213200-112223400	Strong transcription	Adipose Nuclei	Adipose
39	chr5:112213200-112223400	Strong transcription	Fetal Brain Female	brain
40	chr5:112213200-112229400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:112213600-112223000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:112213800-112219400	Strong transcription	Left Ventricle	heart
43	chr5:112213800-112225000	Strong transcription	Fetal Intestine Large	intestine
44	chr5:112214000-112223400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:112214000-112224400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:112214800-112218800	Weak transcription	Fetal Heart	heart
48	chr5:112214800-112220800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:112214800-112220800	Weak transcription	Stomach Mucosa	stomach
50	chr5:112214800-112223400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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