Variant report

Variant	rs12933369
Chromosome Location	chr16:83136397-83136398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11150538	0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs11150539	0.81[EUR][1000 genomes]
rs11647458	0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs12149089	0.84[CHB][hapmap];0.81[CHD][hapmap]
rs12716958	0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs12716959	0.85[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs12716961	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[EUR][1000 genomes]
rs12922854	0.91[EUR][1000 genomes]
rs12923526	0.83[CHB][hapmap]
rs12924791	0.84[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap]
rs12927276	0.81[EUR][1000 genomes]
rs12927301	0.81[EUR][1000 genomes]
rs12927946	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs12928030	0.85[CEU][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs12928048	0.84[CEU][hapmap];0.92[EUR][1000 genomes]
rs12928063	0.85[CEU][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs12928432	0.91[EUR][1000 genomes]
rs12929480	0.81[EUR][1000 genomes]
rs12929690	0.92[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap]
rs12929782	0.81[EUR][1000 genomes]
rs12933133	0.85[CEU][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs12934489	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs12934693	0.81[EUR][1000 genomes]
rs12935419	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs35791442	0.81[EUR][1000 genomes]
rs4254314	0.81[EUR][1000 genomes]
rs4319759	0.91[EUR][1000 genomes]
rs4514665	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs4598899	0.85[CEU][hapmap];0.81[CHB][hapmap];0.92[EUR][1000 genomes]
rs4641734	0.85[CEU][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs4782745	0.80[EUR][1000 genomes]
rs4782748	0.80[EUR][1000 genomes]
rs4783322	0.80[TSI][hapmap]
rs55922145	0.80[EUR][1000 genomes]
rs62036564	0.81[EUR][1000 genomes]
rs62036565	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6565119	0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs6565121	0.80[EUR][1000 genomes]
rs7189236	0.83[EUR][1000 genomes]
rs7190073	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs7191295	0.91[EUR][1000 genomes]
rs7191532	0.91[EUR][1000 genomes]
rs7193877	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8057074	0.81[EUR][1000 genomes]
rs8058790	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs9934153	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9934628	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9934641	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs9937458	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs9937468	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	nsv833306	chr16:83113899-83298775	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv869185	chr16:83125002-83342105	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv907032	chr16:83130260-83152148	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv907033	chr16:83130260-83162678	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv457583	chr16:83134457-83155723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv573388	chr16:83134457-83155723	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12933369	KIAA0182	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83129800-83145000	Weak transcription	Psoas Muscle	Psoas
2	chr16:83130400-83139400	Weak transcription	HSMM	muscle
3	chr16:83133400-83136400	Enhancers	HMEC	breast
4	chr16:83133400-83143200	Weak transcription	HSMMtube	muscle
5	chr16:83133600-83149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:83134600-83151800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:83135400-83136400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:83135400-83136400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:83135600-83136400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:83136000-83147000	Weak transcription	Aorta	Aorta
11	chr16:83136200-83136400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:83136200-83138400	Weak transcription	NHEK	skin
13	chr16:83136200-83147200	Weak transcription	Left Ventricle	heart

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