Variant report

Variant	rs298983
Chromosome Location	chr4:119604802-119604803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr4:119604691-119605092	A549	lung:	n/a	n/a
2	ELF1	chr4:119604658-119605087	HepG2	liver:	n/a	n/a
3	SIX5	chr4:119604737-119605044	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:119604739-119604898	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:119604773-119604855	Hela-S3	cervix:	n/a	n/a
6	SIX5	chr4:119604735-119604997	K562	blood:	n/a	n/a
7	GABPA	chr4:119604650-119605138	MCF-7	breast:	n/a	n/a
8	POLR2A	chr4:119604646-119604983	HepG2	liver:	n/a	n/a
9	CTCF	chr4:119604047-119604986	HCT-116	colon:	n/a	chr4:119604288-119604297 chr4:119604283-119604299
10	YY1	chr4:119604733-119605035	GM12878	blood:	n/a	n/a
11	RFX5	chr4:119604726-119605054	HepG2	liver:	n/a	chr4:119605021-119605030
12	STAT3	chr4:119604801-119605048	MCF10A-Er-Src	breast:	n/a	n/a
13	HEY1	chr4:119604628-119605077	HepG2	liver:	n/a	n/a
14	YY1	chr4:119604775-119605046	HepG2	liver:	n/a	n/a
15	YY1	chr4:119604714-119605079	SK-N-SH_RA	brain:	n/a	n/a
16	SIX5	chr4:119604741-119605026	A549	lung:	n/a	n/a
17	GABPA	chr4:119604534-119605280	MCF-7	breast:	n/a	n/a
18	ZNF143	chr4:119604727-119605095	Hela-S3	cervix:	n/a	n/a
19	STAT3	chr4:119604721-119605065	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr4:119604736-119605042	HCT-116	colon:	n/a	n/a
21	MAX	chr4:119604753-119604997	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr4:119604039-119605247	HL-60	blood:	n/a	n/a
23	ZNF143	chr4:119604719-119605122	K562	blood:	n/a	n/a
24	ELF1	chr4:119604570-119605224	HCT-116	colon:	n/a	n/a
25	YY1	chr4:119604740-119605034	HCT-116	colon:	n/a	n/a
26	ELF1	chr4:119604756-119605015	K562	blood:	n/a	n/a
27	GABPA	chr4:119604648-119605196	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr4:119604760-119604910	AoAF	blood vessel:	n/a	n/a
29	YY1	chr4:119604750-119605060	H1-hESC	embryonic stem cell:	n/a	n/a
30	SMC3	chr4:119604023-119605164	SK-N-SH	brain:	n/a	chr4:119604284-119604298
31	HCFC1	chr4:119603989-119605256	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr4:119604638-119605176	A549	lung:	n/a	n/a
33	POLR2A	chr4:119604669-119605006	HepG2	liver:	n/a	n/a
34	GABPA	chr4:119604629-119605192	HL-60	blood:	n/a	n/a
35	POLR2A	chr4:119604560-119605071	HepG2	liver:	n/a	n/a
36	POLR2A	chr4:119604642-119605040	HCT-116	colon:	n/a	n/a
37	SIX5	chr4:119604761-119605053	H1-hESC	embryonic stem cell:	n/a	n/a
38	GABPA	chr4:119604562-119605200	SK-N-SH	brain:	n/a	n/a
39	STAT3	chr4:119604738-119605030	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr4:119604717-119605039	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZNF143	chr4:119604727-119605118	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr4:119603888-119605069	SK-N-SH	brain:	n/a	n/a
43	ZNF143	chr4:119604705-119605124	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:119604666-119604960	HepG2	liver:	n/a	n/a
45	GABPA	chr4:119604706-119605083	Hela-S3	cervix:	n/a	n/a
46	ELF1	chr4:119604701-119605056	HepG2	liver:	n/a	n/a
47	ELF1	chr4:119603946-119605291	HCT-116	colon:	n/a	n/a
48	GABPA	chr4:119604757-119605112	K562	blood:	n/a	n/a
49	YY1	chr4:119604744-119605068	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr4:119603876-119605056	SK-N-SH	brain:	n/a	chr4:119604288-119604297 chr4:119604283-119604299

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:119603589..119605828-chr4:119610331..119611922,3	MCF-7	breast:
2	chr4:119596615..119599106-chr4:119604524..119606200,2	MCF-7	breast:
3	chr4:119598821..119601848-chr4:119602185..119606095,4	K562	blood:
4	chr4:119199307..119202288-chr4:119603050..119607934,6	MCF-7	breast:
5	chr4:119603174..119605394-chr4:120137644..120139212,2	K562	blood:

No data

Variant related genes	Relation type
METTL14	TF binding region
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1064034	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs167246	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298974	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298975	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298984	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298987	0.97[EUR][1000 genomes]
rs298991	0.98[EUR][1000 genomes]
rs298992	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298994	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298995	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298996	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298998	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs299005	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs366656	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs368669	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs419292	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs606665	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7697022	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119592800-119606200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:119604200-119605200	Active TSS	HepG2	liver
3	chr4:119604400-119605000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:119604400-119605000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:119604600-119605000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:119604600-119605000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:119604600-119605000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:119604600-119605000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:119604600-119605000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:119604600-119605000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:119604600-119605000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:119604600-119605000	Flanking Active TSS	Dnd41	blood
13	chr4:119604600-119605000	Active TSS	Hela-S3	cervix
14	chr4:119604600-119605000	Enhancers	HMEC	breast
15	chr4:119604600-119605000	Flanking Active TSS	K562	blood
16	chr4:119604600-119606000	Enhancers	Fetal Intestine Small	intestine
17	chr4:119604800-119605000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:119604800-119605000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:119604800-119605000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:119604800-119605000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:119604800-119605000	Enhancers	Brain Substantia Nigra	brain
22	chr4:119604800-119605800	Weak transcription	Liver	Liver
23	chr4:119604800-119606000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:119604800-119606000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:119604800-119606000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:119604800-119606000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:119604800-119606000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:119604800-119606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:119604800-119606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:119604800-119606200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:119604800-119606200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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