Variant report

Variant	rs9381384
Chromosome Location	chr6:12749356-12749357
allele	A/G
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	CEBPB	chr6:12749309-12749696	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr6:12749216-12749719	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr6:12749240-12749753	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr6:12748563-12750726	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr6:12749217-12749731	H1-hESC	embryonic stem cell:	n/a	chr6:12749603-12749613 chr6:12749428-12749436 chr6:12749428-12749438 chr6:12749430-12749445 chr6:12749353-12749362 chr6:12749429-12749436 chr6:12749429-12749437 chr6:12749428-12749439 chr6:12749429-12749440 chr6:12749533-12749542 chr6:12749429-12749437
6	MXI1	chr6:12748447-12750926	SK-N-SH	brain:	n/a	n/a
7	CTBP2	chr6:12748829-12750689	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr6:12749233-12749748	H1-hESC	embryonic stem cell:	n/a	chr6:12749533-12749543 chr6:12749534-12749543 chr6:12749529-12749543 chr6:12749533-12749542 chr6:12749532-12749544
9	GATA2	chr6:12748846-12749679	SH-SY5Y	brain:	n/a	chr6:12749182-12749192 chr6:12749184-12749191 chr6:12749182-12749191 chr6:12749184-12749191 chr6:12749182-12749191 chr6:12749184-12749191
10	POLR2A	chr6:12749326-12749559	ProgFib	skin:	n/a	n/a
11	SP1	chr6:12749277-12749874	H1-hESC	embryonic stem cell:	n/a	chr6:12749533-12749543 chr6:12749534-12749543 chr6:12749529-12749543 chr6:12749533-12749542 chr6:12749532-12749544
12	YY1	chr6:12749145-12750227	H1-hESC	embryonic stem cell:	n/a	chr6:12750203-12750217
13	TBP	chr6:12749262-12749960	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:12749349-12749388	ProgFib	skin:	n/a	n/a
15	POLR2A	chr6:12749306-12749586	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr6:12749227-12750659	H1-hESC	embryonic stem cell:	n/a	chr6:12750472-12750482
17	BACH1	chr6:12749326-12749695	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:12749194-12750748	H1-neurons	neurons:	n/a	n/a
19	MAFK	chr6:12749276-12749733	H1-hESC	embryonic stem cell:	n/a	chr6:12749444-12749459 chr6:12749447-12749463 chr6:12749445-12749465 chr6:12749448-12749462
20	POLR2A	chr6:12749301-12749600	H1-hESC	embryonic stem cell:	n/a	n/a
21	EGR1	chr6:12749338-12749794	H1-hESC	embryonic stem cell:	n/a	chr6:12749353-12749363
22	REST	chr6:12748947-12751024	H1-neurons	neurons:	n/a	chr6:12750584-12750604 chr6:12750905-12750923 chr6:12750584-12750604 chr6:12750914-12750932
23	ZNF143	chr6:12749122-12750239	H1-hESC	embryonic stem cell:	n/a	chr6:12749353-12749363
24	POLR2A	chr6:12749322-12749652	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAFK	chr6:12749332-12749531	HepG2	liver:	n/a	chr6:12749444-12749459 chr6:12749447-12749463 chr6:12749445-12749465 chr6:12749448-12749462
26	RAD21	chr6:12749325-12749999	H1-hESC	embryonic stem cell:	n/a	chr6:12749436-12749448

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:12749352-12749402	SAEC	small airway:	n/a
2	chr6:12749352-12749402	HCPEpiC	choroid plexus:	n/a
3	chr6:12749352-12749402	HIPEpiC	eye:	n/a
4	chr6:12749352-12749402	Hela-S3	cervix:	n/a
5	chr6:12749352-12749402	AG04450	lung:	fetal
6	chr6:12749352-12749402	ECC-1	luminal epithelium:	n/a
7	chr6:12749352-12749402	NB4	blood:	n/a
8	chr6:12749352-12749402	HCT-116	colon:	n/a
9	chr6:12749352-12749402	A549	lung:	n/a
10	chr6:12749352-12749402	PFSK-1	brain:	n/a
11	chr6:12749352-12749402	AG09319	gingival:	n/a
12	chr6:12749352-12749402	HEK293	kidney:	embryo
13	chr6:12749352-12749402	MCF-7	breast:	n/a
14	chr6:12749352-12749402	LNCaP	prostate:	n/a
15	chr6:12749352-12749402	T-47D	breast:	n/a
16	chr6:12749352-12749402	NH-A	brain:	n/a
17	chr6:12749352-12749402	NHBE	bronchial:	n/a
18	chr6:12749352-12749402	Jurkat	blood:	n/a
19	chr6:12749352-12749402	MCF10A-Er-Src	breast:	n/a
20	chr6:12749352-12749402	H1-hESC	embryonic stem cell:	embryo
21	chr6:12749352-12749402	AG04449	skin:	fetal
22	chr6:12749352-12749402	IMR90	lung:	fetal
23	chr6:12749352-12749402	SKMC	muscle:	n/a
24	chr6:12749352-12749402	HNPCEpiC	eye:	n/a
25	chr6:12749352-12749402	GM12891	blood:	n/a
26	chr6:12749352-12749402	GM12878	blood:	n/a
27	chr6:12749352-12749402	HepG2	liver:	n/a
28	chr6:12749352-12749402	HRCEpiC	kidney:	n/a
29	chr6:12749352-12749402	HMEC	breast:	n/a
30	chr6:12749352-12749402	PANC-1	pancreas:	n/a
31	chr6:12749352-12749402	HUVEC	blood vessel:	n/a
32	chr6:12749352-12749402	PrEC	prostate:	n/a
33	chr6:12749352-12749402	HL-60	blood:	n/a
34	chr6:12749352-12749402	GM19239	blood:	n/a
35	chr6:12749352-12749402	Caco-2	colon:	n/a
36	chr6:12749352-12749402	GM06990	blood:	n/a
37	chr6:12749352-12749402	Hepatocyte	liver:	n/a
38	chr6:12749352-12749402	HCF	heart:	n/a
39	chr6:12749352-12749402	ProgFib	skin:	n/a
40	chr6:12749352-12749402	CMK	blood:	n/a
41	chr6:12749352-12749402	AoSMC	blood vessel:	n/a
42	chr6:12749352-12749402	NHDF-neo	bronchial:	n/a
43	chr6:12749352-12749402	SK-N-SH_RA	brain:	n/a
44	chr6:12749352-12749402	BJ	skin:	n/a
45	chr6:12749352-12749402	HRPEpiC	eye:	n/a
46	chr6:12749352-12749402	GM12892	blood:	n/a
47	chr6:12749352-12749402	HEEpiC	esophagus:	n/a
48	chr6:12749352-12749402	ovcar-3	ovarian:	n/a
49	chr6:12749352-12749402	AG09309	skin:	n/a
50	chr6:12749352-12749402	HRE	kidney:	n/a

Variant related genes	Relation type
PHACTR1	TF binding region
ENSG00000223291	TF binding region
PHACTR1	CpG island
ENSG00000223291	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10046276	1.00[AMR][1000 genomes]
rs6911996	0.97[ASN][1000 genomes]
rs9357466	0.97[ASN][1000 genomes]
rs9357486	0.92[ASN][1000 genomes]
rs9367216	0.97[ASN][1000 genomes]
rs9395098	0.92[ASN][1000 genomes]
rs9472186	1.00[AMR][1000 genomes]
rs9472198	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3361165	chr6:12748791-12751339	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
4	esv3432117	chr6:12748916-12751314	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12748600-12749400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:12748800-12750400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr6:12748800-12750600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr6:12748800-12750600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:12748800-12750600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:12748800-12750600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:12748800-12751000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:12748800-12752600	Active TSS	Fetal Brain Female	brain
9	chr6:12749000-12749400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:12749000-12749400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:12749000-12749400	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr6:12749000-12749600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:12749000-12750400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:12749000-12750400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:12749000-12750600	Active TSS	HSMM	muscle
16	chr6:12749000-12750800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:12749000-12751000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:12749000-12751000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:12749200-12749400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:12749200-12749400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:12749200-12749400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:12749200-12749400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr6:12749200-12749400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:12749200-12749400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:12749200-12749400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
26	chr6:12749200-12749400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:12749200-12749400	Bivalent Enhancer	Brain Substantia Nigra	brain
28	chr6:12749200-12749400	Bivalent Enhancer	Lung	lung
29	chr6:12749200-12749400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
30	chr6:12749200-12749400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr6:12749200-12749600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
32	chr6:12749200-12749600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:12749200-12749600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr6:12749200-12749600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
35	chr6:12749200-12749600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
36	chr6:12749200-12749600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
37	chr6:12749200-12749600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr6:12749200-12749600	Bivalent Enhancer	NH-A	brain
39	chr6:12749200-12749800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:12749200-12749800	Enhancers	Right Atrium	heart
41	chr6:12749200-12750000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:12749200-12750200	Enhancers	Gastric	stomach
43	chr6:12749200-12750200	Enhancers	Pancreas	Pancrea
44	chr6:12749200-12750400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:12749200-12750400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr6:12749200-12750400	Enhancers	Fetal Brain Male	brain
47	chr6:12749200-12750600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:12749200-12750600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:12749200-12750600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
50	chr6:12749200-12750600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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