Variant report

Variant	esv7536
Chromosome Location	chr5:93958052-93958232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr5:93958177-93958961	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr5:93957474-93958206	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:93956972-93958166	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:93957051-93958058	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:93956795-93960610	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr5:93957690-93958078	Hela-S3	cervix:	n/a	n/a
7	ZNF384	chr5:93957307-93958140	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93952095..93956001-chr5:93957512..93961015,6	MCF-7	breast:
2	chr5:93952256..93955578-chr5:93956306..93958431,4	MCF-7	breast:

Variant related genes	Relation type
KIAA0825	TF binding region
ENSG00000270133	TF binding region
ENSG00000270133	chromatin interactions
ENSG00000133302	chromatin interactions
ENSG00000185261	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17328434	chr5:93958058-93958059	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190189873	chr5:93958148-93958149	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs369365485	chr5:93958170-93958171	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93962400	Weak transcription	Pancreas	Pancrea
2	chr5:93955000-93995400	Weak transcription	Gastric	stomach
3	chr5:93955200-93962400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:93955200-93966200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:93955200-93966200	Weak transcription	Left Ventricle	heart
6	chr5:93955400-93962400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:93955400-93962400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:93955400-93965400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:93955400-93966000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:93955400-93966600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:93955400-93968400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:93955400-93973000	Weak transcription	Ovary	ovary
13	chr5:93955400-93973000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:93955600-93958600	Weak transcription	NHLF	lung
15	chr5:93955600-93964600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:93955600-93964600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:93955600-93964600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:93955600-93965000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:93955600-93965200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:93955600-93965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:93955600-93966000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:93955600-93966000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:93955600-93966000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:93955600-93966000	Weak transcription	Adipose Nuclei	Adipose
25	chr5:93955600-93966000	Weak transcription	Fetal Intestine Large	intestine
26	chr5:93955600-93966000	Weak transcription	HSMM	muscle
27	chr5:93955600-93966400	Weak transcription	Brain Anterior Caudate	brain
28	chr5:93955600-93972000	Weak transcription	Primary T cells from cord blood	blood
29	chr5:93955600-93974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:93955600-93975200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:93955600-93975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:93955800-93958400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:93955800-93964600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:93955800-93964600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:93955800-93964800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr5:93955800-93965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:93955800-93965400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:93955800-93965400	Weak transcription	Brain Germinal Matrix	brain
40	chr5:93955800-93965400	Weak transcription	Fetal Brain Female	brain
41	chr5:93955800-93965400	Weak transcription	Fetal Stomach	stomach
42	chr5:93955800-93966200	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:93955800-93966600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:93955800-93967400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:93955800-93969000	Weak transcription	Placenta	Placenta
46	chr5:93955800-93969400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:93955800-93973000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:93955800-93973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:93955800-93974000	Weak transcription	HMEC	breast
50	chr5:93955800-93995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links