Variant report

Variant	rs16951359
Chromosome Location	chr16:79802663-79802664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr16:79802602-79805391	SK-N-SH	brain:	n/a	chr16:79802820-79802834 chr16:79803941-79803955 chr16:79802825-79802839
2	MAZ	chr16:79802526-79802725	K562	blood:	n/a	n/a
3	JUND	chr16:79802299-79802737	K562	blood:	n/a	n/a
4	BHLHE40	chr16:79802536-79802824	K562	blood:	n/a	n/a
5	EP300	chr16:79802121-79802669	K562	blood:	n/a	chr16:79802235-79802243

No.	Distal block	Cell Line	Cell type
1	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
2	chr16:79801228..79803127-chr16:80136004..80138998,2	K562	blood:
3	chr16:79801918..79803553-chr16:80112816..80115650,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260876	TF binding region

Extended variants
information (count: 111 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10871378	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs11150197	0.82[JPT][hapmap]
rs11860057	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12448881	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13334268	0.92[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs13337701	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.92[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13337703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13338008	0.94[CEU][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13338235	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16951260	0.81[ASN][1000 genomes]
rs16951261	0.81[ASN][1000 genomes]
rs16951284	0.82[ASN][1000 genomes]
rs16951299	0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs16951301	0.92[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.82[ASN][1000 genomes]
rs16951302	0.82[ASN][1000 genomes]
rs16951303	0.82[ASN][1000 genomes]
rs16951310	0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs16951312	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16951318	0.82[ASN][1000 genomes]
rs16951320	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs28420623	0.82[ASN][1000 genomes]
rs28433357	0.82[ASN][1000 genomes]
rs28536718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28691811	0.82[ASN][1000 genomes]
rs4257219	0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs4296269	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4302049	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4316769	0.80[ASN][1000 genomes]
rs4319779	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4319782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4322684	0.82[ASN][1000 genomes]
rs4327063	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4372706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4387616	0.86[JPT][hapmap]
rs4411509	0.92[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.80[ASN][1000 genomes]
rs4435267	0.83[JPT][hapmap]
rs4470160	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4485383	0.83[JPT][hapmap]
rs4528586	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4547344	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4567730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4567731	0.83[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4603571	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4614737	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4632145	0.83[ASN][1000 genomes]
rs4632146	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4633733	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4889024	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889026	1.00[CEU][hapmap];0.96[CHD][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56986701	0.83[ASN][1000 genomes]
rs59100419	0.83[ASN][1000 genomes]
rs59680118	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60153062	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62041321	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62041342	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62041343	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564696	0.80[ASN][1000 genomes]
rs6564697	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564698	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564699	0.82[ASN][1000 genomes]
rs6564700	0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs6564701	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6564702	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66616635	0.80[ASN][1000 genomes]
rs67364537	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7187216	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7190102	0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.94[MKK][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7190298	0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.84[ASN][1000 genomes]
rs7191995	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7199398	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7200600	0.84[ASN][1000 genomes]
rs7200937	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7202532	0.80[ASN][1000 genomes]
rs7205712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72810418	0.81[ASN][1000 genomes]
rs72810426	0.81[ASN][1000 genomes]
rs72810440	0.83[ASN][1000 genomes]
rs7499783	0.88[ASN][1000 genomes]
rs8045678	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs8052982	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8053230	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8057083	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8060038	0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs8060072	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8061610	0.82[ASN][1000 genomes]
rs8062324	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8063650	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9673780	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9673947	0.92[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs9921624	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9922033	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9923844	0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs9925997	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9926635	0.82[ASN][1000 genomes]
rs9927594	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9927598	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.82[LWK][hapmap];0.92[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9928163	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9929497	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9931431	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9936175	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9936192	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9936261	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9939090	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9939565	0.94[EUR][1000 genomes];0.92[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16951359	CHST5	cis	parietal	SCAN
rs16951359	RP11-345M22.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79792800-79804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:79798400-79802800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:79800600-79803400	Weak transcription	Gastric	stomach
4	chr16:79801200-79804200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:79801400-79803600	Enhancers	Fetal Thymus	thymus
6	chr16:79801400-79805000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr16:79801600-79802800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:79801600-79802800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:79801600-79802800	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr16:79801600-79803000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:79801600-79803000	Flanking Active TSS	Fetal Lung	lung
12	chr16:79801600-79803200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr16:79801600-79804000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:79801600-79804000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:79801600-79804000	Enhancers	Primary hematopoietic stem cells	blood
16	chr16:79801600-79804000	Enhancers	Esophagus	oesophagus
17	chr16:79801600-79804000	Enhancers	Fetal Kidney	kidney
18	chr16:79801600-79804000	Enhancers	Placenta	Placenta
19	chr16:79801600-79804000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr16:79801600-79804400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:79801800-79802800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr16:79801800-79802800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr16:79801800-79802800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:79801800-79802800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:79801800-79802800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:79801800-79802800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:79801800-79802800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr16:79801800-79802800	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr16:79801800-79802800	Flanking Active TSS	HMEC	breast
30	chr16:79801800-79803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:79801800-79803800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr16:79801800-79803800	Enhancers	Thymus	Thymus
33	chr16:79801800-79804000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:79801800-79804000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:79802000-79802800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr16:79802000-79802800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:79802000-79802800	Flanking Active TSS	HSMM	muscle
38	chr16:79802000-79803600	Enhancers	Fetal Brain Female	brain
39	chr16:79802000-79803600	Weak transcription	Fetal Heart	heart
40	chr16:79802000-79803800	Enhancers	Brain Germinal Matrix	brain
41	chr16:79802000-79804000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:79802000-79804000	Enhancers	Primary T cells from cord blood	blood
43	chr16:79802000-79804000	Enhancers	Pancreas	Pancrea
44	chr16:79802000-79804000	Enhancers	Spleen	Spleen
45	chr16:79802200-79802800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr16:79802200-79802800	Flanking Active TSS	Osteobl	bone
47	chr16:79802200-79803000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr16:79802200-79803200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr16:79802200-79803400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:79802200-79803800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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