Variant report

Variant	rs7108501
Chromosome Location	chr11:93845352-93845353
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93844204..93845981-chr11:93847595..93849691,2	MCF-7	breast:
2	chr11:93843038..93846219-chr11:93861023..93863615,3	MCF-7	breast:
3	chr11:93844146..93846103-chr11:93859991..93861903,2	K562	blood:
4	chr11:93844146..93845919-chr11:93859116..93861491,2	K562	blood:

Variant related genes	Relation type
ENSG00000110218	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10437575	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1138800	0.80[AMR][1000 genomes]
rs12222234	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949856	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2949857	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2949858	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2949863	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3020011	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35779256	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4269880	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4271349	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4342990	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4396251	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4463817	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4531426	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4590832	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4625415	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753535	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753536	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753537	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4753538	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6483290	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7119039	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119866	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7124402	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926331	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927016	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942162	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942313	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9734022	0.83[AMR][1000 genomes];0.94[EUR][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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv523082	chr11:93834223-93866147	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7108501	AMOTL1	cis	cerebellum	SCAN
rs7108501	PANX1	cis	parietal	SCAN
rs7108501	PANX1	cis	cerebellum	SCAN
rs7108501	HEPHL1	cis	Thyroid	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93843400-93860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:93844400-93846600	Enhancers	Stomach Smooth Muscle	stomach
3	chr11:93844400-93846800	Enhancers	Rectal Smooth Muscle	rectum
4	chr11:93844600-93846400	Enhancers	Colon Smooth Muscle	Colon
5	chr11:93844600-93846600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:93844800-93846600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:93844800-93846800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:93844800-93847400	Enhancers	HMEC	breast
9	chr11:93845000-93846600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:93845000-93846800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:93845000-93846800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:93845000-93846800	Enhancers	NHEK	skin
13	chr11:93845200-93846400	Weak transcription	HSMMtube	muscle
14	chr11:93845200-93846600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:93845200-93849000	Weak transcription	Ovary	ovary
16	chr11:93845200-93850000	Weak transcription	Aorta	Aorta

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