Variant report

Variant	rs17166416
Chromosome Location	chr7:12861165-12861166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10230511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238367	0.90[ASN][1000 genomes]
rs10240689	0.92[ASN][1000 genomes]
rs10254295	0.97[ASN][1000 genomes]
rs10259240	0.96[ASN][1000 genomes]
rs10259524	0.97[ASN][1000 genomes]
rs17166415	0.99[ASN][1000 genomes]
rs17619124	0.96[ASN][1000 genomes]
rs17681457	0.96[ASN][1000 genomes]
rs2191266	0.95[CHB][hapmap];0.91[ASN][1000 genomes]
rs2356698	0.99[ASN][1000 genomes]
rs2357046	0.94[ASN][1000 genomes]
rs2357053	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs28873158	0.95[ASN][1000 genomes]
rs4288268	0.92[ASN][1000 genomes]
rs4480006	0.83[ASN][1000 genomes]
rs4530933	0.85[AMR][1000 genomes]
rs4721148	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs55991971	0.99[ASN][1000 genomes]
rs56082010	0.83[ASN][1000 genomes]
rs6460980	0.96[ASN][1000 genomes]
rs6942839	0.92[ASN][1000 genomes]
rs7783477	0.96[ASN][1000 genomes]
rs7787728	0.92[ASN][1000 genomes]
rs7791902	0.97[ASN][1000 genomes]
rs7793747	0.82[ASN][1000 genomes]
rs7800218	0.82[CHB][hapmap]
rs7808814	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1027806	chr7:12842708-12875714	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv1016775	chr7:12845004-12865643	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12854800-12867200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:12858400-12862200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:12858800-12861200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:12858800-12861600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:12858800-12861800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:12858800-12861800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:12858800-12861800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:12858800-12862000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:12859200-12863000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:12859800-12861600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:12859800-12861800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:12860400-12861800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:12861000-12861400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:12861000-12861400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:12861000-12861800	Enhancers	Brain Hippocampus Middle	brain
16	chr7:12861000-12861800	Enhancers	HepG2	liver
17	chr7:12861000-12862000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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