Variant report

Variant	rs16828193
Chromosome Location	chr1:169752568-169752569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169751349..169757764-chr1:169760418..169766538,11	K562	blood:
2	chr1:169453908..169455963-chr1:169751227..169752986,2	K562	blood:
3	chr1:169751559..169753241-chr1:169780241..169782649,2	MCF-7	breast:
4	chr1:169751112..169752655-chr1:169758575..169760981,2	MCF-7	breast:
5	chr1:169750643..169754945-chr1:169761592..169765030,6	MCF-7	breast:
6	chr1:169751762..169754671-chr1:169756355..169758348,3	K562	blood:

Variant related genes	Relation type
ENSG00000117479	Chromatin interaction
ENSG00000171806	Chromatin interaction
ENSG00000213062	Chromatin interaction
ENSG00000000460	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10489171	0.93[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs10919229	0.93[CHB][hapmap]
rs12024211	0.97[ASN][1000 genomes]
rs12024321	0.82[ASN][1000 genomes]
rs12025244	0.93[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12025442	0.99[ASN][1000 genomes]
rs12025581	0.99[ASN][1000 genomes]
rs12025648	0.97[ASN][1000 genomes]
rs12028435	0.83[ASN][1000 genomes]
rs12029611	0.99[ASN][1000 genomes]
rs12029669	0.80[JPT][hapmap]
rs12031046	0.93[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12037112	0.86[ASN][1000 genomes]
rs12038016	0.89[ASN][1000 genomes]
rs12038307	0.86[ASN][1000 genomes]
rs12042023	0.91[ASN][1000 genomes]
rs12042277	0.88[ASN][1000 genomes]
rs12043338	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs12044932	0.95[ASN][1000 genomes]
rs12046689	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12047464	0.93[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12047936	0.93[CHB][hapmap];0.95[JPT][hapmap]
rs12239757	0.93[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs16862668	0.95[ASN][1000 genomes]
rs16862714	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2179172	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs2272913	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2272914	0.82[ASN][1000 genomes]
rs28477509	0.86[ASN][1000 genomes]
rs35296671	0.85[ASN][1000 genomes]
rs35372000	0.82[ASN][1000 genomes]
rs3766133	0.88[ASN][1000 genomes]
rs3766136	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3766149	0.93[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3766153	0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap]
rs3790404	1.00[GIH][hapmap]
rs3917443	0.88[ASN][1000 genomes]
rs57868479	0.84[ASN][1000 genomes]
rs58583023	0.99[ASN][1000 genomes]
rs58910844	0.99[ASN][1000 genomes]
rs72637234	0.92[ASN][1000 genomes]
rs72637235	0.94[ASN][1000 genomes]
rs72637237	0.98[ASN][1000 genomes]
rs72637238	0.99[ASN][1000 genomes]
rs72637239	0.86[ASN][1000 genomes]
rs72637240	0.86[ASN][1000 genomes]
rs72637241	0.86[ASN][1000 genomes]
rs72637242	0.86[ASN][1000 genomes]
rs72637243	0.82[ASN][1000 genomes]
rs72637244	0.82[ASN][1000 genomes]
rs7674	0.90[GIH][hapmap]
rs9287096	0.84[ASN][1000 genomes]
rs9659149	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169748200-169753600	Enhancers	HUVEC	blood vessel
2	chr1:169749400-169761400	Weak transcription	Liver	Liver
3	chr1:169750200-169753000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:169750400-169754400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:169750800-169762800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:169751400-169752600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:169751600-169753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:169751600-169760200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:169751600-169762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:169752000-169753200	Weak transcription	HMEC	breast

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