Variant report

Variant	rs12928048
Chromosome Location	chr16:83129210-83129211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11150538	0.84[EUR][1000 genomes]
rs11150539	0.82[EUR][1000 genomes]
rs11647458	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12149089	0.92[ASN][1000 genomes]
rs12716958	0.89[EUR][1000 genomes]
rs12716959	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12716960	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12716961	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12920161	0.90[ASN][1000 genomes]
rs12921394	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12922854	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12923526	0.94[ASN][1000 genomes]
rs12924283	0.94[ASN][1000 genomes]
rs12924791	0.94[ASN][1000 genomes]
rs12926360	0.87[ASN][1000 genomes]
rs12927276	0.87[EUR][1000 genomes]
rs12927301	0.87[EUR][1000 genomes]
rs12928030	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928063	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12928432	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12929239	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12929480	0.87[EUR][1000 genomes]
rs12929782	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs12932330	0.81[ASN][1000 genomes]
rs12933133	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12933369	0.84[CEU][hapmap];0.92[EUR][1000 genomes]
rs12934489	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12934693	0.82[EUR][1000 genomes]
rs12935419	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35791442	0.87[EUR][1000 genomes]
rs4254314	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4319759	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4350558	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4430723	1.00[ASN][1000 genomes]
rs4514665	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4523914	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4595788	0.82[EUR][1000 genomes]
rs4598899	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4641734	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4782745	0.87[EUR][1000 genomes]
rs4782746	0.92[ASN][1000 genomes]
rs4782748	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55922145	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62036564	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62036565	0.91[EUR][1000 genomes]
rs6565116	0.84[EUR][1000 genomes]
rs6565117	0.83[EUR][1000 genomes]
rs6565119	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6565121	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7184817	0.82[ASN][1000 genomes]
rs7187580	0.81[ASN][1000 genomes]
rs7189236	0.86[EUR][1000 genomes]
rs7190073	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191295	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191532	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193877	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7201057	0.83[ASN][1000 genomes]
rs8052955	0.83[EUR][1000 genomes]
rs8055166	0.83[EUR][1000 genomes]
rs8057074	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8058790	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934153	0.85[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934628	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934641	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935137	0.80[EUR][1000 genomes]
rs9937458	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9937468	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv527342	chr16:83117361-83134689	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	n/a
10	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83092400-83129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:83106800-83129600	Weak transcription	HSMM	muscle
3	chr16:83107000-83129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:83126000-83129800	Weak transcription	HSMMtube	muscle
5	chr16:83128400-83129600	Weak transcription	Psoas Muscle	Psoas
6	chr16:83128800-83130200	Enhancers	NHEK	skin
7	chr16:83129000-83130000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:83129200-83129600	Enhancers	Fetal Intestine Small	intestine
9	chr16:83129200-83130400	Enhancers	HMEC	breast

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