Variant report

Variant	rs17030716
Chromosome Location	chr2:99009179-99009180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99003846..99006059-chr2:99008161..99010624,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11890366	1.00[EUR][1000 genomes]
rs13395005	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429817	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[EUR][1000 genomes]
rs17034202	1.00[EUR][1000 genomes]
rs17034261	1.00[EUR][1000 genomes]
rs17502330	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs3769704	0.87[ASN][1000 genomes]
rs3769720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769722	1.00[ASN][1000 genomes]
rs3769731	1.00[ASN][1000 genomes]
rs3769732	1.00[ASN][1000 genomes]
rs3769742	1.00[ASN][1000 genomes]
rs3820944	1.00[ASN][1000 genomes]
rs41460047	1.00[ASN][1000 genomes]
rs6710669	1.00[EUR][1000 genomes]
rs6716095	1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[EUR][1000 genomes]
rs6739018	1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[EUR][1000 genomes]
rs6754711	1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[EUR][1000 genomes]
rs7564438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[EUR][1000 genomes]
rs7589617	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7602422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7604711	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7605114	1.00[EUR][1000 genomes]
rs9631039	1.00[ASN][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1008645	chr2:98915767-99010743	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99000200-99011000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:99006000-99013400	Weak transcription	Spleen	Spleen
3	chr2:99006400-99010400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:99007400-99011200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:99008000-99011000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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