Variant report

Variant	rs4490621
Chromosome Location	chr5:89313462-89313463
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	STAT3	chr5:89313387-89313465	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89307936..89309631-chr5:89313078..89316027,2	K562	blood:

Variant related genes	Relation type
MIR3660	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2910775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910776	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910782	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914548	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973367	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7712146	0.92[EUR][1000 genomes];1.00[ASN][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	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv882361	chr5:89302715-89357159	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89311200-89313600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:89311200-89313800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:89311200-89313800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:89311800-89316200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:89311800-89316200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:89311800-89316400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:89311800-89316400	Weak transcription	HUVEC	blood vessel
8	chr5:89312000-89316400	Weak transcription	NH-A	brain
9	chr5:89312000-89316400	Weak transcription	Osteobl	bone
10	chr5:89312000-89317000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:89312200-89316400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:89312200-89317000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:89312400-89313600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:89313000-89313600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:89313000-89317000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:89313200-89316800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:89313200-89316800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:89313200-89317200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:89313400-89317000	Weak transcription	Aorta	Aorta
20	chr5:89313400-89317800	Weak transcription	Colon Smooth Muscle	Colon

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