Variant report

Variant	rs572423263
Chromosome Location	chr3:51987609-51987610
allele	G/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	MAZ	chr3:51987444-51987836	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:51987432-51987872	IMR90	lung:	n/a	chr3:51987659-51987670
3	STAT3	chr3:51987519-51987706	MCF10A-Er-Src	breast:	n/a	n/a
4	ELK1	chr3:51987460-51987859	Hela-S3	cervix:	n/a	n/a
5	MYC	chr3:51987508-51987816	NB4	blood:	n/a	n/a
6	CEBPB	chr3:51987543-51987788	K562	blood:	n/a	chr3:51987659-51987670
7	SMC3	chr3:51987484-51987870	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr3:51987241-51987805	MCF10A-Er-Src	breast:	n/a	n/a
9	ATF3	chr3:51987562-51987733	K562	blood:	n/a	n/a
10	FOS	chr3:51987496-51987829	MCF10A-Er-Src	breast:	n/a	n/a
11	RAD21	chr3:51987444-51987954	Hela-S3	cervix:	n/a	n/a
12	EP300	chr3:51987469-51987839	Hela-S3	cervix:	n/a	n/a
13	FOS	chr3:51987476-51987850	MCF10A-Er-Src	breast:	n/a	n/a
14	KAP1	chr3:51987498-51987826	HEK293	kidney:	n/a	n/a
15	GTF2F1	chr3:51987415-51987856	Hela-S3	cervix:	n/a	n/a
16	JUND	chr3:51987362-51987864	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr3:51987472-51987814	ECC-1	luminal epithelium:	n/a	chr3:51987659-51987670
18	MAFK	chr3:51987408-51987737	HepG2	liver:	n/a	chr3:51987571-51987586
19	FOS	chr3:51987473-51987850	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr3:51987498-51987838	MCF10A-Er-Src	breast:	n/a	n/a
21	TBP	chr3:51987537-51987854	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr3:51987414-51988105	Hela-S3	cervix:	n/a	chr3:51987659-51987670
23	CEBPB	chr3:51987551-51987900	ECC-1	luminal epithelium:	n/a	chr3:51987659-51987670
24	MAFK	chr3:51987380-51987853	Hela-S3	cervix:	n/a	chr3:51987571-51987586
25	CEBPB	chr3:51987587-51987757	K562	blood:	n/a	chr3:51987659-51987670
26	SPI1	chr3:51987421-51988653	HL-60	blood:	n/a	n/a
27	CEBPB	chr3:51987507-51987812	HepG2	liver:	n/a	chr3:51987659-51987670
28	MAX	chr3:51987517-51987864	NB4	blood:	n/a	n/a
29	RCOR1	chr3:51987486-51987807	Hela-S3	cervix:	n/a	n/a
30	MAFF	chr3:51987502-51987738	K562	blood:	n/a	n/a
31	ELK4	chr3:51987511-51987879	Hela-S3	cervix:	n/a	chr3:51987685-51987696
32	MAFK	chr3:51987453-51987718	HepG2	liver:	n/a	chr3:51987571-51987586
33	MAFK	chr3:51987230-51987811	IMR90	lung:	n/a	chr3:51987571-51987586
34	POLR2A	chr3:51987327-51987964	U87	brain:	n/a	n/a
35	JUN	chr3:51987410-51987941	K562	blood:	n/a	n/a
36	MAFF	chr3:51987437-51987706	HepG2	liver:	n/a	n/a
37	POLR2A	chr3:51987569-51988144	Hela-S3	cervix:	n/a	n/a
38	MYC	chr3:51987521-51987734	MCF10A-Er-Src	breast:	n/a	n/a
39	CEBPB	chr3:51987505-51987831	A549	lung:	n/a	chr3:51987659-51987670
40	MYC	chr3:51987501-51987849	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr3:51987456-51988182	SK-N-SH	brain:	n/a	n/a
42	CEBPB	chr3:51987494-51987839	K562	blood:	n/a	chr3:51987659-51987670
43	STAT3	chr3:51987506-51987730	MCF10A-Er-Src	breast:	n/a	n/a
44	JUND	chr3:51987577-51987849	K562	blood:	n/a	n/a
45	PBX3	chr3:51987371-51988087	SK-N-SH	brain:	n/a	n/a
46	SPI1	chr3:51987509-51987964	HL-60	blood:	n/a	n/a
47	ZNF263	chr3:51987183-51988137	HEK293-T-REx	kidney:	n/a	n/a
48	STAT3	chr3:51987537-51987748	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr3:51987432-51987949	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51982600..51984410-chr3:51985795..51988136,2	K562	blood:
2	chr3:51985305..51989166-chr3:51989564..51992012,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCBP4-2	chr3:51985865-51987918	NONHSAT089889

Variant related genes	Relation type
GPR62	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv876781	chr3:51985664-52009612	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv876782	chr3:51985664-52022779	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv876783	chr3:51987224-52009612	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv876784	chr3:51987224-52013242	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51977200-51989200	Weak transcription	Ovary	ovary
2	chr3:51977200-51992000	Weak transcription	Aorta	Aorta
3	chr3:51977400-51989200	Weak transcription	Esophagus	oesophagus
4	chr3:51977600-51989000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:51977600-51989000	Weak transcription	Pancreas	Pancrea
6	chr3:51977600-51989400	Weak transcription	Left Ventricle	heart
7	chr3:51977800-51987800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:51977800-51989400	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:51980400-51989400	Weak transcription	Right Ventricle	heart
10	chr3:51980600-51989200	Weak transcription	Gastric	stomach
11	chr3:51980800-51988000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:51982400-51987800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:51983400-51988400	Weak transcription	Colonic Mucosa	Colon
14	chr3:51983400-51989000	Weak transcription	Brain Anterior Caudate	brain
15	chr3:51983400-51989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:51983400-51989000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr3:51983400-51989400	Weak transcription	Lung	lung
18	chr3:51983600-51987800	Weak transcription	NHLF	lung
19	chr3:51983600-51989000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:51983600-51989200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:51983600-51989200	Weak transcription	Adipose Nuclei	Adipose
22	chr3:51983600-51989200	Weak transcription	Spleen	Spleen
23	chr3:51983800-51990200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:51984000-51989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:51984400-51989200	Weak transcription	Liver	Liver
26	chr3:51986200-51993400	Weak transcription	HepG2	liver
27	chr3:51987000-51987800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr3:51987000-51988200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:51987000-51988200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:51987000-51988400	Enhancers	Hela-S3	cervix
31	chr3:51987000-51989000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr3:51987200-51987800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:51987200-51987800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:51987200-51987800	Enhancers	NHDF-Ad	bronchial
35	chr3:51987200-51988000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:51987200-51988000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:51987200-51988000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:51987200-51988000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:51987200-51988200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:51987200-51988200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:51987200-51988200	Enhancers	Osteobl	bone
42	chr3:51987200-51989000	Enhancers	Brain Angular Gyrus	brain
43	chr3:51987200-51989000	Enhancers	Brain Hippocampus Middle	brain
44	chr3:51987400-51987800	Weak transcription	HSMMtube	muscle
45	chr3:51987400-51988000	Enhancers	NH-A	brain
46	chr3:51987400-51988800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:51987600-51987800	Enhancers	Psoas Muscle	Psoas
48	chr3:51987600-51988000	Enhancers	HSMM	muscle
49	chr3:51987600-51989400	Enhancers	Brain Substantia Nigra	brain
50	chr3:51987600-51990200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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