Variant report

Variant	rs35569453
Chromosome Location	chr4:76932863-76932864
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:76932809-76933159	GM12892	blood:	n/a	n/a
2	FOXM1	chr4:76932821-76933866	GM12878	blood:	n/a	n/a
3	RUNX3	chr4:76932773-76933729	GM12878	blood:	n/a	n/a
4	MTA3	chr4:76932535-76933903	GM12878	blood:	n/a	n/a
5	NFIC	chr4:76932794-76933946	GM12878	blood:	n/a	n/a
6	EBF1	chr4:76932775-76933080	GM12878	blood:	n/a	n/a
7	ZNF143	chr4:76932850-76933703	GM12878	blood:	n/a	n/a
8	E2F6	chr4:76931971-76933216	H1-hESC	embryonic stem cell:	n/a	chr4:76933136-76933147
9	RUNX3	chr4:76932817-76933771	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:76932854-76933317	PFSK-1	brain:	n/a	n/a
11	NFIC	chr4:76932759-76933924	GM12878	blood:	n/a	n/a
12	RELA	chr4:76932822-76933867	GM18505	blood:	n/a	n/a
13	RELA	chr4:76932799-76933753	GM18951	blood:	n/a	n/a
14	NFIC	chr4:76932846-76933477	SK-N-SH	brain:	n/a	n/a
15	MAX	chr4:76932808-76933138	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:76932640-76933648	GM12892	blood:	n/a	n/a
17	POLR2A	chr4:76932833-76933099	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr4:76932697-76933894	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76932862-76932912	IMR90	lung:	fetal
2	chr4:76932862-76932912	MCF-7	breast:	n/a
3	chr4:76932862-76932912	AG09319	gingival:	n/a
4	chr4:76932862-76932912	GM12891	blood:	n/a
5	chr4:76932862-76932912	HEEpiC	esophagus:	n/a
6	chr4:76932862-76932912	CMK	blood:	n/a
7	chr4:76932862-76932912	NB4	blood:	n/a
8	chr4:76932862-76932912	PrEC	prostate:	n/a
9	chr4:76932862-76932912	A549	lung:	n/a
10	chr4:76932862-76932912	HL-60	blood:	n/a
11	chr4:76932862-76932912	HMEC	breast:	n/a
12	chr4:76932862-76932912	PFSK-1	brain:	n/a
13	chr4:76932862-76932912	AG04449	skin:	fetal
14	chr4:76932862-76932912	HRE	kidney:	n/a
15	chr4:76932862-76932912	H1-hESC	embryonic stem cell:	embryo
16	chr4:76932862-76932912	HCPEpiC	choroid plexus:	n/a
17	chr4:76932862-76932912	SAEC	small airway:	n/a
18	chr4:76932862-76932912	SK-N-MC	brain:	n/a
19	chr4:76932862-76932912	AG09309	skin:	n/a
20	chr4:76932862-76932912	HUVEC	blood vessel:	n/a
21	chr4:76932862-76932912	GM19239	blood:	n/a
22	chr4:76932862-76932912	HNPCEpiC	eye:	n/a
23	chr4:76932862-76932912	NHDF-neo	bronchial:	n/a
24	chr4:76932862-76932912	HCM	heart:	n/a
25	chr4:76932862-76932912	HIPEpiC	eye:	n/a
26	chr4:76932862-76932912	HRCEpiC	kidney:	n/a
27	chr4:76932862-76932912	GM12878	blood:	n/a
28	chr4:76932862-76932912	Jurkat	blood:	n/a
29	chr4:76932862-76932912	GM06990	blood:	n/a
30	chr4:76932862-76932912	ProgFib	skin:	n/a
31	chr4:76932862-76932912	ECC-1	luminal epithelium:	n/a
32	chr4:76932862-76932912	NHBE	bronchial:	n/a
33	chr4:76932862-76932912	Hela-S3	cervix:	n/a
34	chr4:76932862-76932912	HAEpiC	amniotic membrane:	n/a
35	chr4:76932862-76932912	LNCaP	prostate:	n/a
36	chr4:76932862-76932912	GM12892	blood:	n/a
37	chr4:76932862-76932912	HCT-116	colon:	n/a
38	chr4:76932862-76932912	NT2-D1	testis:	n/a
39	chr4:76932862-76932912	SK-N-SH_RA	brain:	n/a
40	chr4:76932862-76932912	RPTEC	kidney:	n/a
41	chr4:76932862-76932912	HepG2	liver:	n/a
42	chr4:76932862-76932912	U87	brain:	n/a
43	chr4:76932862-76932912	BE2_C	brain:	n/a
44	chr4:76932862-76932912	K562	blood:	n/a
45	chr4:76932862-76932912	HEK293	kidney:	embryo
46	chr4:76932862-76932912	AG04450	lung:	fetal
47	chr4:76932862-76932912	HCF	heart:	n/a
48	chr4:76932862-76932912	PANC-1	pancreas:	n/a
49	chr4:76932862-76932912	AG10803	skin:	n/a
50	chr4:76932862-76932912	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76932434..76934325-chr4:76957722..76960530,2	K562	blood:

No data

Variant related genes	Relation type
ART3	TF binding region
CXCL9	TF binding region
CXCL9	CpG island
ART3	CpG island
ENSG00000225846	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34627298	0.89[ASN][1000 genomes]
rs56061981	1.00[EUR][1000 genomes]
rs57430951	1.00[EUR][1000 genomes]
rs57807567	0.87[EUR][1000 genomes]
rs58787375	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61545284	0.92[EUR][1000 genomes]
rs72501287	1.00[EUR][1000 genomes]
rs72651388	0.82[ASN][1000 genomes]
rs73825734	0.92[EUR][1000 genomes]
rs868007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884005	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76929000-76934200	Weak transcription	Fetal Intestine Small	intestine
2	chr4:76931600-76933000	Enhancers	Placenta	Placenta
3	chr4:76931800-76933000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:76931800-76933000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:76932000-76933000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:76932000-76934400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:76932200-76933000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:76932200-76933400	Enhancers	Fetal Muscle Trunk	muscle
9	chr4:76932200-76933400	Enhancers	Fetal Muscle Leg	muscle
10	chr4:76932200-76933400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr4:76932200-76934000	Enhancers	Fetal Stomach	stomach
12	chr4:76932400-76933000	Enhancers	Fetal Thymus	thymus
13	chr4:76932400-76933000	Enhancers	Lung	lung
14	chr4:76932400-76933000	Enhancers	Pancreas	Pancrea
15	chr4:76932400-76933000	Enhancers	Spleen	Spleen
16	chr4:76932400-76933000	Enhancers	HMEC	breast
17	chr4:76932400-76933400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:76932400-76933400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:76932400-76933400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:76932400-76934000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:76932400-76934400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:76932600-76933000	Enhancers	Colonic Mucosa	Colon
23	chr4:76932600-76933000	Active TSS	Colon Smooth Muscle	Colon
24	chr4:76932600-76933000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr4:76932600-76933000	Enhancers	Left Ventricle	heart
26	chr4:76932600-76933200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:76932600-76933200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr4:76932600-76933400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr4:76932600-76933600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:76932600-76933600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:76932600-76933600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr4:76932600-76933800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:76932600-76934000	Flanking Active TSS	GM12878-XiMat	blood
34	chr4:76932600-76934400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:76932600-76934400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:76932600-76935400	Enhancers	Liver	Liver
37	chr4:76932800-76933000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:76932800-76933000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:76932800-76933000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:76932800-76933000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr4:76932800-76933000	Flanking Active TSS	NHLF	lung
42	chr4:76932800-76933200	Active TSS	Rectal Smooth Muscle	rectum
43	chr4:76932800-76933400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr4:76932800-76933400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:76932800-76933400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr4:76932800-76933400	Enhancers	Fetal Lung	lung
47	chr4:76932800-76933400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr4:76932800-76933400	Enhancers	HSMMtube	muscle
49	chr4:76932800-76933400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr4:76932800-76933600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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