Variant report

Variant	rs8052615
Chromosome Location	chr16:70840490-70840491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70833200..70838396-chr16:70839036..70844096,11	K562	blood:
2	chr16:70834111..70836791-chr16:70838673..70840669,3	MCF-7	breast:
3	chr16:70838203..70840751-chr16:70840809..70843253,2	MCF-7	breast:
4	chr16:70837606..70840340-chr16:70840352..70843516,3	K562	blood:

Variant related genes	Relation type
ENSG00000262890	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1009285	0.82[ASN][1000 genomes]
rs11863319	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11864614	0.91[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs11866379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12920588	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12924064	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12926985	0.95[ASN][1000 genomes]
rs12928270	0.93[ASN][1000 genomes]
rs12929374	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12934723	0.95[ASN][1000 genomes]
rs12935645	0.95[ASN][1000 genomes]
rs13335758	0.93[ASN][1000 genomes]
rs1551528	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1551529	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16970484	0.81[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs16970513	0.88[ASW][hapmap];0.81[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs17248914	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs2290614	0.81[CEU][hapmap]
rs28676580	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2902830	0.86[MEX][hapmap]
rs34268521	0.86[ASN][1000 genomes]
rs35144432	0.89[ASN][1000 genomes]
rs35426120	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35665975	0.82[ASN][1000 genomes]
rs3760118	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3855651	0.86[ASN][1000 genomes]
rs4985364	0.87[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985423	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs4985425	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs52826576	0.82[ASN][1000 genomes]
rs60190856	0.89[ASN][1000 genomes]
rs6499335	0.81[CEU][hapmap];0.80[MEX][hapmap]
rs6499336	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs713511	0.93[ASN][1000 genomes]
rs71384769	0.93[ASN][1000 genomes]
rs71401831	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7185921	0.83[ASW][hapmap];0.81[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs7188712	1.00[JPT][hapmap]
rs7194091	0.81[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap]
rs7202363	0.87[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.96[ASN][1000 genomes]
rs7203578	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs8044133	0.95[ASN][1000 genomes]
rs8060947	0.83[ASW][hapmap];0.87[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9931380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8052615	FUK	cis	cerebellum	SCAN
rs8052615	VAC14	cis	lymphoblastoid	seeQTL
rs8052615	VAC14	cis	Lymphoblastoid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70835600-70842800	Weak transcription	Brain Anterior Caudate	brain
2	chr16:70837600-70840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:70837600-70841000	Enhancers	HMEC	breast
4	chr16:70838000-70840600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:70838600-70840600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:70838600-70840600	Enhancers	HSMM	muscle
7	chr16:70838600-70840600	Enhancers	HUVEC	blood vessel
8	chr16:70839200-70840800	Enhancers	NH-A	brain
9	chr16:70839400-70841000	Enhancers	Osteobl	bone
10	chr16:70839400-70841200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:70840000-70840800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:70840200-70841400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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