Variant report

Variant	rs73080283
Chromosome Location	chr5:35673403-35673404
allele	C/T
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	CTCF	chr5:35673341-35673418	ProgFib	skin:	n/a	n/a
2	TCF12	chr5:35673227-35673428	GM12878	blood:	n/a	chr5:35673347-35673354
3	ZNF143	chr5:35673253-35673445	GM12878	blood:	n/a	chr5:35673296-35673315 chr5:35673297-35673312

Variant related genes	Relation type
SPEF2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73080213	1.00[AFR][1000 genomes]
rs73080223	1.00[AFR][1000 genomes]
rs73080232	1.00[AFR][1000 genomes]
rs73080270	1.00[AFR][1000 genomes]
rs73080280	1.00[AFR][1000 genomes]
rs73080281	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525477	chr5:35530905-35792990	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv880510	chr5:35659239-35709184	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv881146	chr5:35659239-35714851	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1843371	chr5:35668036-35706279	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35618600-35678000	Weak transcription	Left Ventricle	heart
2	chr5:35630600-35707600	Weak transcription	Pancreas	Pancrea
3	chr5:35645200-35673600	Weak transcription	Fetal Kidney	kidney
4	chr5:35665600-35677800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:35668600-35675000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:35668600-35675800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:35669000-35675000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:35669200-35674800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:35669200-35675000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr5:35670200-35674400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:35670200-35675000	Enhancers	Dnd41	blood
12	chr5:35670400-35678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:35671000-35674600	Enhancers	Primary hematopoietic stem cells	blood
14	chr5:35671600-35673800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:35672000-35675000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:35672000-35708600	Weak transcription	Gastric	stomach
17	chr5:35672200-35674800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:35672600-35674200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:35673000-35673600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr5:35673000-35673600	Enhancers	HSMM	muscle
21	chr5:35673000-35673800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr5:35673000-35673800	Enhancers	Fetal Heart	heart
23	chr5:35673000-35674000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr5:35673000-35674200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:35673000-35674200	Enhancers	Fetal Thymus	thymus
26	chr5:35673000-35674400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:35673200-35673600	Enhancers	Primary B cells from cord blood	blood
28	chr5:35673200-35673600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr5:35673200-35673600	Enhancers	Brain Angular Gyrus	brain
30	chr5:35673200-35673600	Enhancers	Brain Anterior Caudate	brain
31	chr5:35673200-35673600	Enhancers	Brain Hippocampus Middle	brain
32	chr5:35673200-35673600	Enhancers	Colon Smooth Muscle	Colon
33	chr5:35673200-35673800	Enhancers	Duodenum Mucosa	Duodenum
34	chr5:35673200-35674000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:35673200-35674000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:35673400-35673600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr5:35673400-35673600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:35673400-35673600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr5:35673400-35678400	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links