Variant report

Variant	rs73060336
Chromosome Location	chr4:787845-787846
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	EBF1	chr4:787683-788125	GM12878	blood:	n/a	n/a
2	MTA3	chr4:787675-788325	GM12878	blood:	n/a	n/a
3	RUNX3	chr4:787832-788452	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:787814-788050	ProgFib	skin:	n/a	n/a
5	TCF3	chr4:787822-788303	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:787402-787914	K562	blood:	n/a	n/a
7	POLR2A	chr4:785021-789943	MCF-7	breast:	n/a	n/a
8	POLR2A	chr4:787311-787872	K562	blood:	n/a	n/a
9	POLR2A	chr4:787292-788104	K562	blood:	n/a	n/a
10	HEY1	chr4:787298-788008	K562	blood:	n/a	n/a
11	POLR2A	chr4:787285-788220	MCF-7	breast:	n/a	n/a
12	POLR2A	chr4:787375-787951	K562	blood:	n/a	n/a
13	POLR2A	chr4:787430-787974	K562	blood:	n/a	n/a
14	POLR2A	chr4:787623-788132	MCF-7	breast:	n/a	n/a
15	TAF7	chr4:787399-787939	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:784819..786637-chr4:786722..788557,2	K562	blood:
2	chr4:782759..784380-chr4:786772..789323,2	K562	blood:
3	chr4:785727..788437-chr4:797674..799221,2	K562	blood:

Variant related genes	Relation type
CPLX1	TF binding region
ENSG00000168993	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1026741	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2242235	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3775148	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57297500	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58212655	0.92[EUR][1000 genomes]
rs62294061	0.84[EUR][1000 genomes]
rs62294063	0.84[EUR][1000 genomes]
rs62294067	0.84[EUR][1000 genomes]
rs62294074	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62294076	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62294077	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62294078	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62294079	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62294081	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62294083	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62294121	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62294124	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62294125	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62294129	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62294130	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6599376	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73058469	0.84[EUR][1000 genomes]
rs73058482	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73058497	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73058499	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73060334	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv878254	chr4:708932-899143	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv878255	chr4:708932-1052488	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv878257	chr4:712222-852313	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv878258	chr4:712222-1058358	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv878259	chr4:713920-852313	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv878260	chr4:713920-1052488	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv818207	chr4:753944-821490	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
17	nsv878261	chr4:756686-1047794	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv1007928	chr4:757263-813885	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	nsv1003219	chr4:769894-1105464	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
20	nsv521402	chr4:771587-793763	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv878262	chr4:771587-865227	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
22	nsv878263	chr4:771587-1047794	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
23	nsv964736	chr4:777089-807477	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv432547	chr4:782301-1053930	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
25	nsv10419	chr4:782316-788814	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73060336	PCGF3	cis	putamen	BrainEAC
rs73060336	PCGF3	cis	intralobular white matter	BrainEAC
rs73060336	PCGF3	cis	cerebellar cortex	BrainEAC
rs73060336	PCGF3	cis	frontal cortex	BrainEAC
rs73060336	PCGF3	cis	brain	BrainEAC

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:780800-788800	Weak transcription	Right Atrium	heart
2	chr4:784000-789800	Bivalent Enhancer	Placenta	Placenta
3	chr4:785000-789800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:785400-788800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr4:785800-788000	Flanking Active TSS	Fetal Thymus	thymus
6	chr4:785800-788400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr4:785800-789600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr4:786200-788000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr4:786200-788800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr4:786400-789200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:786400-789200	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr4:786400-789400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:786600-789000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr4:786600-789600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:786600-790200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:786800-788000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:786800-788200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr4:786800-788400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:786800-788400	Bivalent Enhancer	Fetal Brain Female	brain
20	chr4:786800-788800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr4:786800-788800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr4:786800-788800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr4:786800-788800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr4:786800-788800	Weak transcription	Liver	Liver
25	chr4:786800-789200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr4:786800-789200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr4:786800-790000	Flanking Active TSS	Thymus	Thymus
28	chr4:787000-789000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:787000-789000	Weak transcription	Gastric	stomach
30	chr4:787000-789200	Bivalent Enhancer	Spleen	Spleen
31	chr4:787400-788800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
32	chr4:787600-788000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr4:787600-788800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
34	chr4:787600-788800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:787800-788000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:787800-788000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:787800-788000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:787800-788000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr4:787800-788000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr4:787800-788000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:787800-788000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr4:787800-788000	Bivalent Enhancer	NHEK	skin
43	chr4:787800-788200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:787800-788200	Bivalent Enhancer	Brain Angular Gyrus	brain
45	chr4:787800-788400	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr4:787800-788400	Bivalent Enhancer	HSMM	muscle
47	chr4:787800-788800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:787800-788800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
49	chr4:787800-789000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:787800-789000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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