Variant report

Variant	rs2721330
Chromosome Location	chr7:120583025-120583026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120577684..120579807-chr7:120581325..120584070,2	K562	blood:
2	chr7:120582973..120587570-chr7:120719112..120724083,6	K562	blood:
3	chr7:120497411..120498960-chr7:120582956..120584849,2	K562	blood:
4	chr7:120581362..120584073-chr7:120588812..120591206,3	MCF-7	breast:
5	chr7:120572871..120575820-chr7:120582834..120585642,2	K562	blood:

Variant related genes	Relation type
ENSG00000106025	Chromatin interaction
ENSG00000071243	Chromatin interaction
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11976580	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12154976	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12673417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs17132731	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17142976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17143013	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1859319	0.86[CEU][hapmap]
rs2097806	0.86[CEU][hapmap]
rs2189974	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2248890	0.86[CEU][hapmap]
rs2525705	1.00[CEU][hapmap]
rs2525706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721329	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721332	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721341	0.85[CEU][hapmap]
rs2721344	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721346	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721347	0.80[CEU][hapmap]
rs2721348	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721354	0.85[CEU][hapmap]
rs2721360	0.87[ASN][1000 genomes]
rs2721371	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41613	0.81[ASN][1000 genomes]
rs41616	0.81[ASN][1000 genomes]
rs41617	0.81[ASN][1000 genomes]
rs41622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs41623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs41626	0.81[ASN][1000 genomes]
rs42333	0.81[ASN][1000 genomes]
rs4730982	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs55733320	0.81[ASN][1000 genomes]
rs56023697	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56067931	0.81[ASN][1000 genomes]
rs61481874	0.87[ASN][1000 genomes]
rs67679138	0.81[ASN][1000 genomes]
rs73427871	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73427873	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73427878	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7805733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7810542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs886440	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

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	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv967472	chr7:120581340-120591647	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2721330	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120574000-120585200	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:120582000-120585000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:120582200-120585000	Weak transcription	Liver	Liver
4	chr7:120582200-120588600	Weak transcription	K562	blood
5	chr7:120582400-120585400	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links