Variant report

Variant	rs4683242
Chromosome Location	chr3:46549032-46549033
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46528809..46531447-chr3:46546904..46549677,2	K562	blood:
2	chr3:46547294..46549950-chr3:46554092..46556061,2	K562	blood:
3	chr3:46537026..46541239-chr3:46548551..46552427,5	K562	blood:

Variant related genes	Relation type
ENSG00000163825	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10865941	0.82[JPT][hapmap]
rs10865942	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1520483	0.82[JPT][hapmap]
rs17078863	1.00[CEU][hapmap]
rs17078878	1.00[CEU][hapmap]
rs1814973	0.96[EUR][1000 genomes]
rs1879328	1.00[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2888531	0.96[EUR][1000 genomes]
rs34334514	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34504121	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35714147	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4521278	1.00[CEU][hapmap];0.92[TSI][hapmap]
rs4683235	1.00[CEU][hapmap]
rs4683241	1.00[CEU][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs4683243	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs55786118	0.96[EUR][1000 genomes]
rs59244195	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60983021	0.91[EUR][1000 genomes]
rs6442000	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67227548	0.96[EUR][1000 genomes]
rs6774189	0.94[GIH][hapmap];1.00[TSI][hapmap]
rs6776621	1.00[CEU][hapmap]
rs6791941	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6804045	0.87[ASN][1000 genomes]
rs72622927	0.81[ASN][1000 genomes]
rs72900270	0.85[EUR][1000 genomes]
rs72900281	0.91[EUR][1000 genomes]
rs7428292	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7629657	1.00[CEU][hapmap]
rs7643332	0.91[EUR][1000 genomes]
rs867619	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883738	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883740	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs885485	0.82[JPT][hapmap]
rs885486	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46537200-46550200	Enhancers	K562	blood
2	chr3:46541000-46557600	Weak transcription	Left Ventricle	heart
3	chr3:46541000-46580200	Weak transcription	Fetal Heart	heart
4	chr3:46541200-46562200	Weak transcription	Right Ventricle	heart
5	chr3:46544800-46556000	Weak transcription	Psoas Muscle	Psoas
6	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
7	chr3:46545400-46551200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:46545600-46558000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:46545600-46559200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:46547000-46549400	Weak transcription	Fetal Thymus	thymus
11	chr3:46547400-46552600	Weak transcription	HSMMtube	muscle
12	chr3:46548200-46549400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:46548200-46553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:46548600-46549200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:46548800-46549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:46549000-46549200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:46549000-46549400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:46549000-46549600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:46549000-46549600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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