Variant report

Variant	rs1007005
Chromosome Location	chr1:45601401-45601402
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45601104..45604532-chr1:45609883..45613262,3	K562	blood:
2	chr1:45595180..45597948-chr1:45601398..45603703,2	K562	blood:
3	chr1:45595180..45598267-chr1:45601398..45603703,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1561794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs174638	1.00[AMR][1000 genomes]
rs174639	1.00[AMR][1000 genomes]
rs1892476	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2211646	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264012	1.00[AMR][1000 genomes]
rs264016	1.00[AMR][1000 genomes]
rs264017	1.00[AMR][1000 genomes]
rs264018	1.00[AMR][1000 genomes]
rs2883814	1.00[AMR][1000 genomes]
rs3219497	1.00[AMR][1000 genomes]
rs35710243	1.00[AMR][1000 genomes]
rs418302	1.00[AMR][1000 genomes]
rs425780	1.00[AMR][1000 genomes]
rs4660829	1.00[AMR][1000 genomes]
rs492515	1.00[AMR][1000 genomes]
rs57755658	1.00[AMR][1000 genomes]
rs58600794	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58829168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59089628	1.00[AMR][1000 genomes]
rs59351600	1.00[AMR][1000 genomes]
rs59682873	1.00[AMR][1000 genomes]
rs59975097	1.00[AMR][1000 genomes]
rs60123910	1.00[AMR][1000 genomes]
rs60789611	1.00[AMR][1000 genomes]
rs61542654	1.00[AMR][1000 genomes]
rs6666857	1.00[AMR][1000 genomes]
rs72890576	1.00[AMR][1000 genomes]
rs72890601	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45590000-45627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45600200-45601600	Enhancers	Fetal Intestine Small	intestine
3	chr1:45600200-45601800	Enhancers	Fetal Intestine Large	intestine
4	chr1:45600400-45605000	Enhancers	HepG2	liver
5	chr1:45600600-45601600	Weak transcription	Small Intestine	intestine
6	chr1:45600600-45606400	Weak transcription	Ovary	ovary
7	chr1:45600800-45601600	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:45600800-45606200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:45601000-45605200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:45601000-45613400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:45601200-45605800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:45601200-45606600	Weak transcription	Brain Anterior Caudate	brain

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