Variant report

Variant	rs2991965
Chromosome Location	chr1:45999045-45999046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45990085..45992504-chr1:45996653..45999903,3	MCF-7	breast:
2	chr1:45998915..46004761-chr1:46006522..46011880,8	K562	blood:

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11211125	0.92[AFR][1000 genomes]
rs12065695	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12066809	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12070890	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12083690	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16832545	0.92[AFR][1000 genomes]
rs16832559	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1855621	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28674795	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2934860	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2934861	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2934863	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2934864	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2991967	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2991969	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2991984	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2993256	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2993260	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2993261	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3014222	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3014223	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3014224	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3014226	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35103566	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs36053912	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57910611	0.92[AFR][1000 genomes]
rs59050426	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60347972	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6664588	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6671347	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6677135	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6699702	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72478602	1.00[ASN][1000 genomes]
rs72480603	1.00[ASN][1000 genomes]
rs72898313	0.84[AFR][1000 genomes]
rs72898315	0.92[AFR][1000 genomes]
rs72898320	0.92[AFR][1000 genomes]
rs72898323	0.88[AFR][1000 genomes]
rs72900311	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7412911	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7536559	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7550744	1.00[ASN][1000 genomes]
rs9429080	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9429083	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9429164	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9429165	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
6	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
7	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
8	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	232 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45989200-46000600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:45992800-46002400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:45997200-45999200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:45998600-45999400	Enhancers	Placenta	Placenta
5	chr1:45998600-45999800	Enhancers	HepG2	liver
6	chr1:45998800-45999200	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links