Variant report

Variant	rs167246
Chromosome Location	chr4:119606120-119606121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr4:119605925-119606811	K562	blood:	n/a	chr4:119606500-119606514
2	CEBPB	chr4:119606045-119606725	MCF-7	breast:	n/a	chr4:119606438-119606449
3	POLR2A	chr4:119605934-119606844	HCT-116	colon:	n/a	n/a
4	MAX	chr4:119606061-119606981	GM12878	blood:	n/a	n/a
5	GABPA	chr4:119605971-119607150	A549	lung:	n/a	n/a
6	POLR2A	chr4:119606054-119607128	GM12892	blood:	n/a	n/a
7	GTF2F1	chr4:119606029-119606775	Hela-S3	cervix:	n/a	n/a
8	SRF	chr4:119605766-119607052	HCT-116	colon:	n/a	n/a
9	POLR2A	chr4:119605684-119606965	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:119606018-119607137	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr4:119605794-119607092	GM12892	blood:	n/a	n/a
12	MAZ	chr4:119605906-119606995	K562	blood:	n/a	n/a
13	POLR2A	chr4:119605949-119606928	K562	blood:	n/a	n/a
14	GABPA	chr4:119605713-119607340	MCF-7	breast:	n/a	n/a
15	POLR2A	chr4:119605987-119607113	H1-neurons	neurons:	n/a	n/a
16	TBP	chr4:119605923-119606845	GM12878	blood:	n/a	n/a
17	MXI1	chr4:119606016-119606951	K562	blood:	n/a	n/a
18	POLR2A	chr4:119605764-119607117	GM12891	blood:	n/a	n/a
19	NR2F2	chr4:119606051-119606874	K562	blood:	n/a	n/a
20	POLR2A	chr4:119606049-119607014	HepG2	liver:	n/a	n/a
21	RELA	chr4:119606016-119606997	GM18951	blood:	n/a	n/a
22	POLR2A	chr4:119605982-119607037	SK-N-SH	brain:	n/a	n/a
23	GTF2F1	chr4:119605987-119606820	H1-hESC	embryonic stem cell:	n/a	n/a
24	HCFC1	chr4:119605860-119606972	K562	blood:	n/a	n/a
25	MAX	chr4:119605944-119607107	ECC-1	luminal epithelium:	n/a	n/a
26	E2F4	chr4:119606094-119606988	MCF10A-Er-Src	breast:	n/a	chr4:119606916-119606930
27	CHD2	chr4:119605875-119606964	K562	blood:	n/a	n/a
28	REST	chr4:119605764-119607400	H1-neurons	neurons:	n/a	n/a
29	CREB1	chr4:119605981-119607075	HepG2	liver:	n/a	n/a
30	ZNF384	chr4:119606002-119607103	K562	blood:	n/a	n/a
31	CEBPB	chr4:119606088-119606706	H1-hESC	embryonic stem cell:	n/a	chr4:119606438-119606449
32	NFYA	chr4:119606087-119606840	K562	blood:	n/a	n/a
33	POLR2A	chr4:119606098-119607017	GM12891	blood:	n/a	n/a
34	CHD1	chr4:119606026-119606592	GM12878	blood:	n/a	n/a
35	CHD2	chr4:119606074-119607079	GM12878	blood:	n/a	n/a
36	KAP1	chr4:119605763-119606374	K562	blood:	n/a	n/a
37	GABPA	chr4:119605975-119607143	SK-N-SH	brain:	n/a	n/a
38	MAX	chr4:119606064-119606857	K562	blood:	n/a	n/a
39	MAX	chr4:119605921-119607007	K562	blood:	n/a	n/a
40	PML	chr4:119605910-119607048	GM12878	blood:	n/a	n/a
41	CUX1	chr4:119605940-119607054	K562	blood:	n/a	n/a
42	POLR2A	chr4:119606046-119607102	U87	brain:	n/a	n/a
43	CREB1	chr4:119606025-119607043	GM12878	blood:	n/a	n/a
44	RCOR1	chr4:119605867-119607000	K562	blood:	n/a	n/a
45	TAL1	chr4:119606118-119606787	K562	blood:	n/a	chr4:119606348-119606366
46	GTF2F1	chr4:119606079-119606880	K562	blood:	n/a	n/a
47	BCLAF1	chr4:119606113-119606903	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:119605940-119607009	GM19099	blood:	n/a	n/a
49	POLR2A	chr4:119605830-119606956	Raji	blood:	n/a	n/a
50	POLR2A	chr4:119606104-119607073	HUVEC	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:119596615..119599106-chr4:119604524..119606200,2	MCF-7	breast:
2	chr4:119602965..119604556-chr4:119604808..119606463,2	K562	blood:
3	chr4:119199307..119202288-chr4:119603050..119607934,6	MCF-7	breast:

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1064034	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298974	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298975	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298982	0.83[AFR][1000 genomes]
rs298983	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298984	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298987	0.97[EUR][1000 genomes]
rs298991	0.98[EUR][1000 genomes]
rs298992	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298994	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298998	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs299005	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs366656	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs368669	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs419292	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs606665	0.85[AFR][1000 genomes];0.97[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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119592800-119606200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:119604800-119606200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:119604800-119606200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:119605000-119606200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:119605000-119606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:119605000-119606200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:119605000-119606200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:119605000-119606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:119605000-119606200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:119605200-119606200	Flanking Active TSS	HepG2	liver
11	chr4:119605200-119607400	Active TSS	Hela-S3	cervix
12	chr4:119605800-119606200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:119605800-119606200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:119605800-119606200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr4:119605800-119606200	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr4:119605800-119606400	Flanking Active TSS	Dnd41	blood
17	chr4:119605800-119606600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:119605800-119607200	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:119605800-119607200	Active TSS	Fetal Lung	lung
20	chr4:119605800-119607400	Active TSS	HMEC	breast
21	chr4:119605800-119607800	Active TSS	A549	lung
22	chr4:119606000-119606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:119606000-119606200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:119606000-119606200	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:119606000-119606200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:119606000-119606200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:119606000-119606200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr4:119606000-119606200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:119606000-119606200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:119606000-119606200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:119606000-119606200	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr4:119606000-119606200	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr4:119606000-119606400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr4:119606000-119606400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr4:119606000-119606400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr4:119606000-119606400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr4:119606000-119606400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:119606000-119606400	Flanking Active TSS	NH-A	brain
39	chr4:119606000-119606600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:119606000-119606800	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr4:119606000-119606800	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr4:119606000-119607000	Active TSS	Primary hematopoietic stem cells	blood
43	chr4:119606000-119607000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:119606000-119607000	Active TSS	Adipose Nuclei	Adipose
45	chr4:119606000-119607000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr4:119606000-119607000	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr4:119606000-119607200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:119606000-119607200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:119606000-119607200	Active TSS	Primary T cells fromperipheralblood	blood
50	chr4:119606000-119607200	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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