Variant report

Variant	rs12446149
Chromosome Location	chr16:83109259-83109260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12444052	1.00[CHB][hapmap]
rs12446074	1.00[CHB][hapmap]
rs35879103	0.87[EUR][1000 genomes]
rs4238725	1.00[CHB][hapmap]
rs4453471	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4471668	1.00[CHB][hapmap]
rs4782744	0.85[ASN][1000 genomes]
rs4783311	1.00[CHB][hapmap]
rs4783312	1.00[CHB][hapmap]
rs56275589	0.85[ASN][1000 genomes]
rs6565107	1.00[CHB][hapmap]
rs6565108	1.00[CHB][hapmap]
rs7187925	1.00[CHB][hapmap]
rs7188901	1.00[CHB][hapmap]
rs7202573	1.00[CHB][hapmap]
rs72796248	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796255	0.86[EUR][1000 genomes]
rs72796257	0.87[EUR][1000 genomes]
rs8044036	1.00[CHB][hapmap]
rs8044983	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv573386	chr16:83091463-83170417	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv907031	chr16:83096520-83112996	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv457582	chr16:83103233-83148925	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv573387	chr16:83103233-83148925	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv1060245	chr16:83105024-83146684	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12446149	FAM92B	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83090200-83129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:83092400-83129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:83097600-83129200	Weak transcription	HMEC	breast
4	chr16:83106800-83129600	Weak transcription	HSMM	muscle
5	chr16:83107000-83115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:83107000-83129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:83107200-83110400	Weak transcription	HSMMtube	muscle
8	chr16:83108200-83109600	Enhancers	Fetal Brain Male	brain
9	chr16:83108800-83109400	Enhancers	Right Ventricle	heart
10	chr16:83109000-83109400	Enhancers	Fetal Brain Female	brain
11	chr16:83109200-83109400	Enhancers	Aorta	Aorta

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