Variant report

Variant	rs16951310
Chromosome Location	chr16:79792809-79792810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79792741..79795517-chr16:79798638..79801342,2	K562	blood:
2	chr16:79711804..79712622-chr16:79792808..79793339,2	MCF-7	breast:
3	chr16:79785733..79789270-chr16:79790871..79794406,3	K562	blood:
4	chr16:79632870..79636122-chr16:79791499..79795376,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178573	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs11861737	0.82[JPT][hapmap]
rs13334268	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13337701	0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs13337703	0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap]
rs13338008	0.82[JPT][hapmap]
rs13338235	0.83[ASN][1000 genomes]
rs16951260	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16951261	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16951264	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16951284	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951299	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951301	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951312	0.94[ASW][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs16951318	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951320	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951359	0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs28420623	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28433357	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536718	0.82[ASN][1000 genomes]
rs28691811	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243180	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4257219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4296269	0.92[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs4302049	0.82[ASN][1000 genomes]
rs4316769	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4319779	0.85[ASN][1000 genomes]
rs4319782	0.88[ASW][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4322684	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4327063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372706	0.88[ASW][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4387616	1.00[CEU][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs4411509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4470160	0.88[ASW][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4474702	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4528586	0.82[ASN][1000 genomes]
rs4547344	0.92[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap]
rs4567730	0.92[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4567731	0.92[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs4603571	0.84[ASN][1000 genomes]
rs4614737	0.88[ASW][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4632145	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4632146	0.85[ASN][1000 genomes]
rs4633733	0.85[ASN][1000 genomes]
rs4889024	0.85[ASN][1000 genomes]
rs4889026	0.82[CHD][hapmap]
rs56986701	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59100419	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59680118	0.84[ASN][1000 genomes]
rs60153062	0.84[ASN][1000 genomes]
rs62041321	0.84[ASN][1000 genomes]
rs62041342	0.84[ASN][1000 genomes]
rs62041343	0.84[ASN][1000 genomes]
rs6564696	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6564697	0.85[ASN][1000 genomes]
rs6564698	0.84[ASN][1000 genomes]
rs6564699	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564700	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564702	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6564703	0.92[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6564704	0.88[ASW][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs66616635	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67364537	0.85[ASN][1000 genomes]
rs7187216	0.85[ASN][1000 genomes]
rs7188433	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7190102	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.85[ASN][1000 genomes]
rs7190298	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199398	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7200600	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7200937	0.85[ASN][1000 genomes]
rs7202532	0.83[ASN][1000 genomes]
rs7205712	0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs72810418	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72810426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72810440	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73572226	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7499783	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8045678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052982	0.85[ASN][1000 genomes]
rs8053230	0.84[ASN][1000 genomes]
rs8056805	0.86[EUR][1000 genomes]
rs8057083	0.85[ASN][1000 genomes]
rs8057344	0.86[EUR][1000 genomes]
rs8060038	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8060072	0.92[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs8061610	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062324	0.92[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs8063650	0.86[ASN][1000 genomes]
rs9673780	0.92[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs9673947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922033	0.94[ASW][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9923844	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9925997	0.84[ASN][1000 genomes]
rs9926635	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9927594	0.92[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9927598	0.88[ASW][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs9928163	0.87[ASN][1000 genomes]
rs9929497	0.84[ASN][1000 genomes]
rs9931431	0.85[ASN][1000 genomes]
rs9936175	0.86[ASN][1000 genomes]
rs9936192	0.84[ASN][1000 genomes]
rs9936261	0.86[ASN][1000 genomes]
rs9939090	0.84[ASN][1000 genomes]
rs9939565	0.86[ASN][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16951310	RP11-345M22.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79789000-79794000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:79789200-79801400	Weak transcription	Fetal Muscle Leg	muscle
3	chr16:79789200-79802000	Weak transcription	Primary T cells from cord blood	blood
4	chr16:79789400-79801400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:79791600-79793800	Weak transcription	K562	blood
6	chr16:79792000-79794000	Enhancers	HMEC	breast
7	chr16:79792200-79793200	Enhancers	NHLF	lung
8	chr16:79792200-79793600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:79792400-79793400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:79792400-79793400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:79792400-79793400	Enhancers	Fetal Intestine Large	intestine
12	chr16:79792400-79793400	Enhancers	NHDF-Ad	bronchial
13	chr16:79792600-79793000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:79792600-79793000	Flanking Active TSS	NHEK	skin
15	chr16:79792600-79793200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:79792600-79793200	Enhancers	Fetal Lung	lung
17	chr16:79792600-79793200	Flanking Active TSS	A549	lung
18	chr16:79792600-79794000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr16:79792600-79794200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:79792800-79793000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:79792800-79793200	Enhancers	HepG2	liver
22	chr16:79792800-79793200	Enhancers	HSMMtube	muscle
23	chr16:79792800-79793400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:79792800-79794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:79792800-79794800	Weak transcription	Fetal Intestine Small	intestine
26	chr16:79792800-79801600	Weak transcription	Esophagus	oesophagus
27	chr16:79792800-79801800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:79792800-79804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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