Variant report

Variant	rs4316769
Chromosome Location	chr16:79805070-79805071
allele	A/G
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	RFX5	chr16:79803570-79805472	IMR90	lung:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
2	MXI1	chr16:79803755-79805133	SK-N-SH	brain:	n/a	n/a
3	ZMIZ1	chr16:79803430-79805584	K562	blood:	n/a	n/a
4	POLR2A	chr16:79803019-79805255	K562	blood:	n/a	n/a
5	EP300	chr16:79802602-79805391	SK-N-SH	brain:	n/a	chr16:79802820-79802834 chr16:79803941-79803955 chr16:79802825-79802839
6	ARID3A	chr16:79804963-79805399	K562	blood:	n/a	n/a
7	NFYA	chr16:79804237-79805394	K562	blood:	n/a	chr16:79804631-79804645 chr16:79804631-79804646 chr16:79804631-79804646
8	CUX1	chr16:79804659-79805310	K562	blood:	n/a	n/a
9	POLR2A	chr16:79803767-79805282	K562	blood:	n/a	n/a
10	EP300	chr16:79804034-79805202	K562	blood:	n/a	n/a
11	RFX5	chr16:79804085-79805420	HepG2	liver:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
12	BHLHE40	chr16:79803209-79805113	K562	blood:	n/a	n/a
13	POLR2A	chr16:79803267-79805449	K562	blood:	n/a	n/a
14	RCOR1	chr16:79803113-79805441	K562	blood:	n/a	n/a
15	ZC3H11A	chr16:79804715-79805347	K562	blood:	n/a	n/a
16	RFX5	chr16:79804167-79805392	H1-hESC	embryonic stem cell:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
17	RFX5	chr16:79803991-79805658	K562	blood:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
18	POLR2A	chr16:79804036-79805115	H1-hESC	embryonic stem cell:	n/a	n/a
19	RFX5	chr16:79803164-79806271	SK-N-SH	brain:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625

Variant related genes	Relation type
ENSG00000261390	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11860057	0.89[ASN][1000 genomes]
rs12448881	0.83[ASN][1000 genomes]
rs13334268	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16951260	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16951261	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16951264	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16951284	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951299	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951301	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951302	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951303	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951310	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951318	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951320	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951359	0.80[ASN][1000 genomes]
rs28420623	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28433357	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28536718	0.80[ASN][1000 genomes]
rs28691811	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4243180	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4257219	0.84[EUR][1000 genomes]
rs4302049	0.80[ASN][1000 genomes]
rs4322684	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4327063	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4411509	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4474702	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4528586	0.80[ASN][1000 genomes]
rs4567731	0.84[ASN][1000 genomes]
rs4632145	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56986701	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59100419	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6564696	0.81[ASN][1000 genomes]
rs6564699	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564700	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564701	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66616635	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7188433	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7190298	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7191995	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7200600	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7202532	0.98[ASN][1000 genomes]
rs72810418	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72810426	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72810440	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73572226	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7499783	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8045678	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8056805	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8057344	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8060038	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8061610	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9673947	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9921624	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9923844	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9926635	0.86[EUR][1000 genomes];0.83[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
rs4316769	RP11-345M22.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79803600-79805200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr16:79803600-79805200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:79803800-79805200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:79804000-79805200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:79804000-79805200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:79804000-79805200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr16:79804000-79805200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr16:79804000-79805200	Active TSS	Aorta	Aorta
9	chr16:79804000-79805200	Active TSS	Ovary	ovary
10	chr16:79804200-79805200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:79804200-79805200	Active TSS	Right Atrium	heart
12	chr16:79804200-79805400	Active TSS	Stomach Smooth Muscle	stomach
13	chr16:79804400-79805200	Active TSS	Fetal Brain Male	brain
14	chr16:79804400-79805200	Weak transcription	Small Intestine	intestine
15	chr16:79804800-79805200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr16:79804800-79805200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:79804800-79805200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:79804800-79805200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr16:79804800-79805200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr16:79804800-79805200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:79804800-79805200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr16:79804800-79805200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:79804800-79805200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:79804800-79805200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr16:79804800-79805200	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr16:79804800-79805200	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr16:79804800-79805200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr16:79804800-79805200	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr16:79804800-79805200	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr16:79804800-79805200	Flanking Active TSS	Fetal Heart	heart
31	chr16:79804800-79805200	Flanking Active TSS	Fetal Kidney	kidney
32	chr16:79804800-79805200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr16:79804800-79805200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:79804800-79805200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr16:79804800-79805200	Enhancers	Spleen	Spleen
36	chr16:79804800-79805200	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr16:79804800-79805200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr16:79804800-79805200	Flanking Active TSS	NHDF-Ad	bronchial
39	chr16:79804800-79805200	Flanking Active TSS	NHEK	skin
40	chr16:79804800-79805200	Flanking Active TSS	Osteobl	bone
41	chr16:79804800-79805400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr16:79804800-79805400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:79804800-79805400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr16:79804800-79805600	Flanking Active TSS	K562	blood
45	chr16:79805000-79805200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:79805000-79805200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:79805000-79805200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr16:79805000-79805200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr16:79805000-79805200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:79805000-79805200	Enhancers	Primary monocytes fromperipheralblood	blood

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