Variant report

Variant	rs298982
Chromosome Location	chr4:119605009-119605010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 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	GABPA	chr4:119604650-119605138	MCF-7	breast:	n/a	n/a
5	YY1	chr4:119604733-119605035	GM12878	blood:	n/a	n/a
6	RFX5	chr4:119604726-119605054	HepG2	liver:	n/a	chr4:119605021-119605030
7	STAT3	chr4:119604801-119605048	MCF10A-Er-Src	breast:	n/a	n/a
8	HEY1	chr4:119604628-119605077	HepG2	liver:	n/a	n/a
9	YY1	chr4:119604775-119605046	HepG2	liver:	n/a	n/a
10	YY1	chr4:119604714-119605079	SK-N-SH_RA	brain:	n/a	n/a
11	SIX5	chr4:119604741-119605026	A549	lung:	n/a	n/a
12	CTCF	chr4:119604958-119605036	LNCaP	prostate:	n/a	n/a
13	GABPA	chr4:119604534-119605280	MCF-7	breast:	n/a	n/a
14	ZNF143	chr4:119604727-119605095	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr4:119604721-119605065	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:119604736-119605042	HCT-116	colon:	n/a	n/a
17	GABPA	chr4:119604039-119605247	HL-60	blood:	n/a	n/a
18	ZNF143	chr4:119604719-119605122	K562	blood:	n/a	n/a
19	ELF1	chr4:119604570-119605224	HCT-116	colon:	n/a	n/a
20	YY1	chr4:119604740-119605034	HCT-116	colon:	n/a	n/a
21	ELF1	chr4:119604756-119605015	K562	blood:	n/a	n/a
22	GABPA	chr4:119604648-119605196	SK-N-SH	brain:	n/a	n/a
23	STAT3	chr4:119604845-119605026	MCF10A-Er-Src	breast:	n/a	n/a
24	YY1	chr4:119604750-119605060	H1-hESC	embryonic stem cell:	n/a	n/a
25	SMC3	chr4:119604023-119605164	SK-N-SH	brain:	n/a	chr4:119604284-119604298
26	HCFC1	chr4:119603989-119605256	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr4:119604638-119605176	A549	lung:	n/a	n/a
28	GABPA	chr4:119604629-119605192	HL-60	blood:	n/a	n/a
29	GABPA	chr4:119604834-119605011	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:119604560-119605071	HepG2	liver:	n/a	n/a
31	POLR2A	chr4:119604642-119605040	HCT-116	colon:	n/a	n/a
32	SIX5	chr4:119604761-119605053	H1-hESC	embryonic stem cell:	n/a	n/a
33	GABPA	chr4:119604562-119605200	SK-N-SH	brain:	n/a	n/a
34	STAT3	chr4:119604738-119605030	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr4:119604717-119605039	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZNF143	chr4:119604727-119605118	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr4:119604814-119605035	K562	blood:	n/a	n/a
38	RAD21	chr4:119603888-119605069	SK-N-SH	brain:	n/a	n/a
39	ZNF143	chr4:119604705-119605124	GM12878	blood:	n/a	n/a
40	CTCF	chr4:119604900-119605050	HBMEC	blood vessel:	n/a	n/a
41	GABPA	chr4:119604706-119605083	Hela-S3	cervix:	n/a	n/a
42	ELF1	chr4:119604701-119605056	HepG2	liver:	n/a	n/a
43	ELF1	chr4:119603946-119605291	HCT-116	colon:	n/a	n/a
44	GABPA	chr4:119604757-119605112	K562	blood:	n/a	n/a
45	YY1	chr4:119604744-119605068	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr4:119603876-119605056	SK-N-SH	brain:	n/a	chr4:119604288-119604297 chr4:119604283-119604299
47	HCFC1	chr4:119604710-119605141	K562	blood:	n/a	n/a
48	ELF1	chr4:119604693-119605025	K562	blood:	n/a	n/a
49	ARID3A	chr4:119604193-119605191	HepG2	liver:	n/a	n/a
50	YY1	chr4:119604794-119605063	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:6 , 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	chr4:119602965..119604556-chr4:119604808..119606463,2	K562	blood:
5	chr4:119199307..119202288-chr4:119603050..119607934,6	MCF-7	breast:
6	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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs167246	0.83[AFR][1000 genomes]
rs17323606	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs298984	0.81[AFR][1000 genomes]
rs298988	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs299005	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs4834701	0.93[CEU][hapmap]
rs57581623	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6820588	0.95[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:30 , 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	chr4:119604600-119606000	Enhancers	Fetal Intestine Small	intestine
4	chr4:119604800-119605800	Weak transcription	Liver	Liver
5	chr4:119604800-119606000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:119604800-119606000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:119604800-119606000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:119604800-119606000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:119604800-119606000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:119604800-119606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:119604800-119606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:119604800-119606200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:119604800-119606200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:119605000-119605200	Enhancers	Hela-S3	cervix
15	chr4:119605000-119605200	Enhancers	K562	blood
16	chr4:119605000-119605600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:119605000-119605800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:119605000-119605800	Enhancers	Dnd41	blood
19	chr4:119605000-119605800	Weak transcription	HMEC	breast
20	chr4:119605000-119606000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:119605000-119606000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:119605000-119606000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:119605000-119606000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:119605000-119606000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:119605000-119606200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:119605000-119606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:119605000-119606200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:119605000-119606200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:119605000-119606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:119605000-119606200	Weak transcription	Placenta Amnion	Placenta Amnion

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