Variant report

Variant	rs7630598
Chromosome Location	chr3:101351497-101351498
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr3:101350999-101351699	K562	blood:	n/a	n/a
2	TEAD4	chr3:101350839-101351549	K562	blood:	n/a	n/a
3	POLR2A	chr3:101350158-101356687	K562	blood:	n/a	n/a
4	POLR2A	chr3:101350957-101353163	K562	blood:	n/a	n/a
5	IRF1	chr3:101351015-101352142	K562	blood:	n/a	n/a
6	POLR2A	chr3:101350977-101353035	K562	blood:	n/a	n/a
7	UBTF	chr3:101350974-101351998	K562	blood:	n/a	n/a
8	RCOR1	chr3:101350945-101351993	K562	blood:	n/a	n/a
9	POLR2A	chr3:101351018-101352095	K562	blood:	n/a	n/a
10	POLR2A	chr3:101350775-101352292	K562	blood:	n/a	n/a
11	POLR2A	chr3:101350856-101363203	K562	blood:	n/a	n/a
12	POLR2A	chr3:101351278-101351819	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:101290744..101294519-chr3:101349897..101353536,8	K562	blood:
2	chr3:101292975..101294521-chr3:101350316..101352906,2	MCF-7	breast:
3	chr3:101290744..101293723-chr3:101348752..101353109,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212319	TF binding region
ENSG00000081154	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1078154	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12629395	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631729	0.88[EUR][1000 genomes]
rs13062695	0.91[EUR][1000 genomes]
rs13063994	0.91[EUR][1000 genomes]
rs13065665	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs13070567	0.92[EUR][1000 genomes]
rs13078121	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs13097625	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs13097712	0.86[EUR][1000 genomes]
rs16844078	0.89[EUR][1000 genomes]
rs16844120	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34103639	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34408425	0.94[EUR][1000 genomes]
rs34508490	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34774691	0.88[EUR][1000 genomes]
rs34930373	0.88[EUR][1000 genomes]
rs35102530	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35917542	0.89[EUR][1000 genomes]
rs3762735	0.88[EUR][1000 genomes]
rs6441619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6762367	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6791241	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6792847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71315243	0.88[EUR][1000 genomes]
rs71315244	0.88[EUR][1000 genomes]
rs71315245	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71315246	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71315249	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7619122	0.94[EUR][1000 genomes]
rs7632449	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7637805	0.92[EUR][1000 genomes]

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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv992869	chr3:101348433-101360316	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv511216	chr3:101349644-101366921	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101350400-101352600	Active TSS	K562	blood
2	chr3:101350600-101366800	Weak transcription	Fetal Brain Female	brain
3	chr3:101351200-101353400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:101351400-101352200	Flanking Bivalent TSS/Enh	HepG2	liver

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