Variant report

Variant	rs59100419
Chromosome Location	chr16:79803387-79803388
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	chr16:79803250-79803742	K562	blood:	n/a	n/a
2	POLR2A	chr16:79803019-79805255	K562	blood:	n/a	n/a
3	EP300	chr16:79802602-79805391	SK-N-SH	brain:	n/a	chr16:79802820-79802834 chr16:79803941-79803955 chr16:79802825-79802839
4	ZNF384	chr16:79803246-79803500	K562	blood:	n/a	n/a
5	MAFK	chr16:79803298-79803804	K562	blood:	n/a	n/a
6	MAZ	chr16:79803269-79804943	K562	blood:	n/a	n/a
7	CEBPB	chr16:79803108-79803667	K562	blood:	n/a	n/a
8	ZNF143	chr16:79803188-79803520	K562	blood:	n/a	n/a
9	JUND	chr16:79803225-79803600	K562	blood:	n/a	n/a
10	RCOR1	chr16:79803318-79803709	K562	blood:	n/a	n/a
11	BHLHE40	chr16:79803209-79805113	K562	blood:	n/a	n/a
12	POLR2A	chr16:79803267-79805449	K562	blood:	n/a	n/a
13	SPI1	chr16:79803303-79803476	K562	blood:	n/a	chr16:79803325-79803338
14	CEBPB	chr16:79803130-79803410	HepG2	liver:	n/a	n/a
15	RCOR1	chr16:79803113-79805441	K562	blood:	n/a	n/a
16	CUX1	chr16:79803168-79803415	K562	blood:	n/a	n/a
17	MYC	chr16:79803005-79805009	K562	blood:	n/a	n/a
18	POLR2A	chr16:79803367-79803520	K562	blood:	n/a	n/a
19	HEY1	chr16:79803208-79803509	K562	blood:	n/a	n/a
20	RFX5	chr16:79803164-79806271	SK-N-SH	brain:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79801918..79803553-chr16:80112816..80115650,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260876	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11860057	0.87[ASN][1000 genomes]
rs12448881	0.81[ASN][1000 genomes]
rs13334268	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13337701	0.80[ASN][1000 genomes]
rs16951260	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16951261	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16951264	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951284	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951299	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951301	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951302	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951303	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951310	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951318	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951320	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951359	0.83[ASN][1000 genomes]
rs28420623	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28433357	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28536718	0.83[ASN][1000 genomes]
rs28691811	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4243180	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4257219	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4302049	0.83[ASN][1000 genomes]
rs4316769	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4322684	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4327063	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4387616	0.85[EUR][1000 genomes]
rs4411509	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4474702	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4528586	0.83[ASN][1000 genomes]
rs4567731	0.86[ASN][1000 genomes]
rs4632145	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56986701	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6564696	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6564699	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6564700	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6564701	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66616635	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7188433	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7190298	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7191995	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7200600	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7202532	0.97[ASN][1000 genomes]
rs72810418	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72810426	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72810440	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73572226	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7499783	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8045678	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8056805	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8057344	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8060038	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8061610	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9673947	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9921624	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9923844	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9926635	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];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
rs59100419	RP11-345M22.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:99 , 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	chr16:79800600-79803400	Weak transcription	Gastric	stomach
3	chr16:79801200-79804200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:79801400-79803600	Enhancers	Fetal Thymus	thymus
5	chr16:79801400-79805000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr16:79801600-79804000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:79801600-79804000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:79801600-79804000	Enhancers	Primary hematopoietic stem cells	blood
9	chr16:79801600-79804000	Enhancers	Esophagus	oesophagus
10	chr16:79801600-79804000	Enhancers	Fetal Kidney	kidney
11	chr16:79801600-79804000	Enhancers	Placenta	Placenta
12	chr16:79801600-79804000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr16:79801600-79804400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:79801800-79803800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:79801800-79803800	Enhancers	Thymus	Thymus
16	chr16:79801800-79804000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:79801800-79804000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:79802000-79803600	Enhancers	Fetal Brain Female	brain
19	chr16:79802000-79803600	Weak transcription	Fetal Heart	heart
20	chr16:79802000-79803800	Enhancers	Brain Germinal Matrix	brain
21	chr16:79802000-79804000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:79802000-79804000	Enhancers	Primary T cells from cord blood	blood
23	chr16:79802000-79804000	Enhancers	Pancreas	Pancrea
24	chr16:79802000-79804000	Enhancers	Spleen	Spleen
25	chr16:79802200-79803400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:79802200-79803800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:79802200-79804000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr16:79802200-79804000	Enhancers	Stomach Mucosa	stomach
29	chr16:79802400-79803600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr16:79802400-79803600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:79802400-79803600	Weak transcription	NH-A	brain
32	chr16:79802400-79803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr16:79802400-79803800	Enhancers	Fetal Intestine Large	intestine
34	chr16:79802400-79803800	Enhancers	Fetal Muscle Leg	muscle
35	chr16:79802400-79803800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr16:79802400-79804000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:79802400-79804000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr16:79802400-79804000	Enhancers	Fetal Muscle Trunk	muscle
39	chr16:79802400-79804000	Enhancers	Fetal Stomach	stomach
40	chr16:79802400-79804000	Enhancers	Left Ventricle	heart
41	chr16:79802400-79804000	Enhancers	Small Intestine	intestine
42	chr16:79802400-79804200	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr16:79802600-79803400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr16:79802600-79803400	Enhancers	K562	blood
45	chr16:79802600-79803600	Enhancers	Colonic Mucosa	Colon
46	chr16:79802600-79803600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr16:79802600-79803800	Enhancers	Liver	Liver
48	chr16:79802600-79804000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr16:79802600-79804000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:79802600-79804000	Enhancers	Brain Cingulate Gyrus	brain

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