Variant report

Variant	rs11701518
Chromosome Location	chr21:44987079-44987080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1003280	0.87[CHB][hapmap]
rs1073522	0.87[CHB][hapmap]
rs11089020	0.84[ASN][1000 genomes]
rs1122873	0.87[CHB][hapmap]
rs11701746	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12627667	0.87[CHB][hapmap];0.94[YRI][hapmap]
rs1378079	0.87[CHB][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes]
rs1378080	0.87[CHB][hapmap]
rs141521	0.87[CHB][hapmap];0.80[YRI][hapmap]
rs1436291	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1454648	0.87[CHB][hapmap]
rs1454650	0.87[CHB][hapmap]
rs1454651	0.87[CHB][hapmap];0.84[YRI][hapmap]
rs1584917	0.86[CHB][hapmap]
rs1584918	0.86[CHB][hapmap]
rs1595167	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1598206	0.87[CHB][hapmap]
rs162343	0.87[YRI][hapmap]
rs162344	0.87[CHB][hapmap]
rs162345	0.87[CHB][hapmap];0.86[YRI][hapmap]
rs162366	0.87[CHB][hapmap]
rs162367	0.96[YRI][hapmap]
rs162371	0.87[CHB][hapmap]
rs162372	0.87[CHB][hapmap]
rs162375	0.87[CHB][hapmap]
rs162376	0.87[CHB][hapmap]
rs162377	0.87[CHB][hapmap]
rs162378	0.87[CHB][hapmap];0.83[YRI][hapmap]
rs162388	0.87[CHB][hapmap];0.90[YRI][hapmap]
rs162398	0.89[YRI][hapmap]
rs1836854	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1836855	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1836856	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2246602	0.87[CHB][hapmap]
rs229357	0.87[CHB][hapmap]
rs2329442	0.87[CHB][hapmap]
rs2838315	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2838316	0.87[CHB][hapmap]
rs2838317	0.87[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2838319	0.87[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2838321	0.87[CHB][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs2838323	0.87[CHB][hapmap]
rs2838324	0.87[CHB][hapmap]
rs2838328	0.87[CHB][hapmap]
rs2838330	0.87[CHB][hapmap]
rs2838331	0.87[CHB][hapmap]
rs2838336	0.87[CHB][hapmap];0.94[YRI][hapmap]
rs2838337	0.87[CHB][hapmap]
rs2838338	0.87[CHB][hapmap]
rs2838339	0.87[CHB][hapmap]
rs2838341	0.87[CHB][hapmap];0.93[YRI][hapmap]
rs2838343	0.87[CHB][hapmap];0.91[YRI][hapmap]
rs2876854	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788062	0.87[CHB][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes]
rs4818850	0.86[CHB][hapmap]
rs4819212	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4819219	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819270	0.93[CHB][hapmap]
rs4997353	0.90[AFR][1000 genomes]
rs56369437	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6417729	0.96[ASN][1000 genomes]
rs6518268	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6518301	0.87[CHB][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs6518302	0.87[CHB][hapmap]
rs6518309	0.87[CHB][hapmap]
rs7276215	0.86[CHB][hapmap]
rs7276633	0.87[CHB][hapmap];0.93[YRI][hapmap]
rs7278003	0.96[ASN][1000 genomes]
rs7278282	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279958	0.87[CHB][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs7279968	0.87[CHB][hapmap];0.93[YRI][hapmap]
rs7282122	0.85[YRI][hapmap]
rs7282704	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7283362	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8131020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133523	0.87[CHB][hapmap]
rs86139	0.87[CHB][hapmap]
rs9306159	0.87[CHB][hapmap]
rs9976441	0.87[CHB][hapmap]
rs9977258	0.96[ASN][1000 genomes]
rs9978811	0.86[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs9979187	0.85[ASN][1000 genomes]
rs9981291	0.87[CHB][hapmap]
rs9981790	0.84[CHB][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes]
rs9983763	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv1837818	chr21:44949285-44987079	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv511632	chr21:44963686-44987079	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv3537	chr21:44967340-45013104	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv965984	chr21:44983478-44987141	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11701518	HSF2BP	cis	multi-tissue	Pritchard
rs11701518	HSF2BP	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44980400-44998400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:44982800-44988200	Weak transcription	HSMM	muscle
3	chr21:44983000-44991800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr21:44983000-44993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:44984000-44990600	Weak transcription	Fetal Brain Female	brain
6	chr21:44985000-44991200	Weak transcription	Adipose Nuclei	Adipose
7	chr21:44986400-44987200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:44986600-44987200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:44987000-44987200	Active TSS	Spleen	Spleen
10	chr21:44987000-44987400	Flanking Active TSS	HSMMtube	muscle

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