Variant report

Variant	rs346703
Chromosome Location	chr1:45554025-45554026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45478626..45481172-chr1:45552881..45556060,3	K562	blood:
2	chr1:45285124..45287446-chr1:45552897..45556279,3	K562	blood:
3	chr1:45552821..45555517-chr1:45559008..45561806,2	MCF-7	breast:
4	chr1:45194490..45196037-chr1:45552131..45554366,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1144868	1.00[CHD][hapmap]
rs1152028	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226732	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226750	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374935	0.87[CHD][hapmap]
rs1612575	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105460	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2202152	0.91[CHD][hapmap]
rs2228084	0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs2356302	1.00[CHD][hapmap]
rs238249	1.00[CHD][hapmap]
rs2997465	1.00[CHD][hapmap]
rs34134455	1.00[CHD][hapmap]
rs346685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346686	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346688	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346692	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346693	1.00[CHD][hapmap]
rs346696	1.00[CHD][hapmap]
rs346704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346706	0.95[CHD][hapmap]
rs346707	1.00[CHD][hapmap]
rs346709	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346710	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346718	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346724	1.00[CHD][hapmap]
rs346725	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346726	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346730	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346732	1.00[ASW][hapmap];1.00[CHD][hapmap]
rs346733	1.00[CHD][hapmap]
rs346735	0.84[AFR][1000 genomes]
rs3850855	1.00[CHD][hapmap]
rs409082	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412055	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415614	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454624	1.00[CHD][hapmap]
rs4660834	1.00[CHD][hapmap]
rs4660835	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4660841	1.00[CHD][hapmap]
rs55826381	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55842174	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884892	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57805650	0.84[ASN][1000 genomes]
rs59432881	0.86[AMR][1000 genomes]
rs60506423	0.87[EUR][1000 genomes]
rs61574129	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6429556	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6688318	1.00[CHD][hapmap]
rs6693885	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72684406	0.86[AMR][1000 genomes]
rs72684412	0.91[AMR][1000 genomes]
rs72684416	0.86[AMR][1000 genomes]
rs72684425	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72684426	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72684447	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684481	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684482	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684485	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684487	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684488	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684496	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72684499	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686404	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686415	0.87[EUR][1000 genomes]
rs72686418	0.87[EUR][1000 genomes]
rs72686419	0.87[EUR][1000 genomes]
rs72686420	0.87[EUR][1000 genomes]
rs72686421	0.87[EUR][1000 genomes]
rs72686423	0.87[EUR][1000 genomes]
rs7528534	0.80[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap]
rs7543211	0.86[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	chr1:45525800-45558600	Weak transcription	HepG2	liver
2	chr1:45543400-45555400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:45543800-45562200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:45544400-45560200	Weak transcription	Pancreas	Pancrea
5	chr1:45545000-45558200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:45546000-45554800	Weak transcription	Ovary	ovary
7	chr1:45546800-45555000	Weak transcription	Fetal Brain Female	brain
8	chr1:45550200-45555400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:45550800-45562200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:45551000-45558200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:45551600-45555000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:45554000-45555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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