Variant report

Variant	rs17814075
Chromosome Location	chr8:86217633-86217634
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	chr8:86088599..86090947-chr8:86216106..86218320,2	MCF-7	breast:
2	chr8:86215057..86217911-chr8:86221082..86223025,2	K562	blood:

Variant related genes	Relation type
ENSG00000260493	Chromatin interaction
ENSG00000254208	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1021457	1.00[ASN][1000 genomes]
rs1021458	1.00[ASN][1000 genomes]
rs11777530	1.00[ASN][1000 genomes]
rs11780942	1.00[ASN][1000 genomes]
rs13265202	1.00[ASN][1000 genomes]
rs13274009	1.00[ASN][1000 genomes]
rs1389246	1.00[ASN][1000 genomes]
rs1472200	1.00[ASN][1000 genomes]
rs1493301	0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs16913589	0.85[YRI][hapmap]
rs16913598	0.85[YRI][hapmap]
rs17741410	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17813585	0.85[YRI][hapmap]
rs17814183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814255	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814594	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979694	1.00[ASN][1000 genomes]
rs2101706	1.00[ASN][1000 genomes]
rs2201258	1.00[ASN][1000 genomes]
rs2466764	1.00[ASN][1000 genomes]
rs2645050	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2725292	1.00[YRI][hapmap]
rs2725295	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2725296	1.00[YRI][hapmap]
rs359526	1.00[ASN][1000 genomes]
rs384656	1.00[ASN][1000 genomes]
rs385064	1.00[ASN][1000 genomes]
rs393828	1.00[ASN][1000 genomes]
rs395964	1.00[ASN][1000 genomes]
rs404123	1.00[ASN][1000 genomes]
rs406858	1.00[ASN][1000 genomes]
rs407320	1.00[ASN][1000 genomes]
rs411276	1.00[ASN][1000 genomes]
rs414922	1.00[ASN][1000 genomes]
rs4150921	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs422914	1.00[ASN][1000 genomes]
rs427285	1.00[ASN][1000 genomes]
rs435449	1.00[ASN][1000 genomes]
rs438730	1.00[ASN][1000 genomes]
rs443177	1.00[ASN][1000 genomes]
rs4740052	1.00[ASN][1000 genomes]
rs56082812	0.83[AFR][1000 genomes]
rs57271883	0.83[AFR][1000 genomes]
rs59170491	0.83[AFR][1000 genomes]
rs60789842	0.83[AFR][1000 genomes]
rs62512497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512498	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62527221	1.00[ASN][1000 genomes]
rs62527224	1.00[ASN][1000 genomes]
rs6605618	1.00[ASN][1000 genomes]
rs663323	1.00[ASN][1000 genomes]
rs6984702	1.00[ASN][1000 genomes]
rs6990339	1.00[ASN][1000 genomes]
rs6994366	1.00[ASN][1000 genomes]
rs7817747	1.00[ASN][1000 genomes]
rs981495	1.00[ASN][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	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2761442	chr8:86201657-86230641	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 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	chr8:86197400-86225800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:86211600-86222000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:86215800-86217800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:86216200-86217800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:86216600-86217800	Enhancers	Placenta	Placenta
6	chr8:86217200-86217800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:86217200-86217800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:86217200-86217800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:86217400-86221600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:86217600-86229200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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