Variant report

Variant	rs12666315
Chromosome Location	chr7:149389039-149389040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:149388763..149391168-chr7:149424298..149425828,2	K562	blood:
2	chr7:149386410..149389616-chr7:149411226..149413045,3	K562	blood:
3	chr7:149386377..149389153-chr7:149437745..149440227,2	MCF-7	breast:
4	chr7:149386837..149389497-chr7:149406569..149408146,2	K562	blood:
5	chr7:149387246..149389616-chr7:149411226..149412939,2	K562	blood:

Variant related genes	Relation type
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10256826	0.96[GIH][hapmap]
rs10262457	0.96[GIH][hapmap]
rs11970808	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12670973	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12671012	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12672127	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1371119	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1371120	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1439098	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1439099	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1595613	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17752568	0.88[EUR][1000 genomes]
rs56989772	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57648598	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57697678	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58440295	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60397053	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60571819	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60735114	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61213107	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6974082	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73475633	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73475635	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73475637	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73475638	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73475640	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73475645	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7791608	0.96[GIH][hapmap]
rs885651	0.89[GIH][hapmap]
rs885652	0.89[GIH][hapmap]

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	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149380400-149389400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:149387600-149389600	Enhancers	Placenta	Placenta
3	chr7:149387800-149389800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr7:149387800-149390200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:149388000-149389600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:149388000-149390000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:149388600-149389400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:149388600-149389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:149388600-149389400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:149388600-149389400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:149388600-149389400	Weak transcription	Right Atrium	heart
12	chr7:149388600-149389600	Weak transcription	Pancreas	Pancrea
13	chr7:149388800-149389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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