Variant report

Variant	rs72772244
Chromosome Location	chr5:79287546-79287547
allele	C/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	POLR2A	chr5:79286281-79287606	GM19099	blood:	n/a	n/a
2	POLR2A	chr5:79286113-79287586	GM12878	blood:	n/a	n/a
3	MXI1	chr5:79286253-79287574	GM12878	blood:	n/a	n/a
4	ELK1	chr5:79286822-79287560	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr5:79286647-79287576	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:79286510-79287556	HepG2	liver:	n/a	n/a
7	STAT3	chr5:79287091-79287737	MCF10A-Er-Src	breast:	n/a	n/a
8	GABPA	chr5:79286091-79287912	MCF-7	breast:	n/a	n/a
9	GABPA	chr5:79286529-79287636	SK-N-SH	brain:	n/a	n/a
10	SIN3A	chr5:79286738-79287573	GM12878	blood:	n/a	n/a
11	MAZ	chr5:79286481-79287691	GM12878	blood:	n/a	n/a
12	GABPA	chr5:79286225-79287767	A549	lung:	n/a	n/a
13	POLR2A	chr5:79286144-79287663	GM18505	blood:	n/a	n/a
14	POLR2A	chr5:79286654-79287565	GM12878	blood:	n/a	n/a
15	CHD2	chr5:79286401-79287647	GM12878	blood:	n/a	n/a
16	EGR1	chr5:79286515-79287552	HCT-116	colon:	n/a	n/a
17	POLR2A	chr5:79286294-79287584	H1-hESC	embryonic stem cell:	n/a	n/a
18	WRNIP1	chr5:79286869-79287973	GM12878	blood:	n/a	n/a
19	MAX	chr5:79286584-79287666	GM12878	blood:	n/a	n/a
20	REST	chr5:79286323-79287608	H1-neurons	neurons:	n/a	n/a
21	GTF2F1	chr5:79286574-79287565	Hela-S3	cervix:	n/a	n/a
22	SIN3A	chr5:79286385-79287564	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr5:79286525-79287631	A549	lung:	n/a	n/a
24	MXI1	chr5:79285220-79287809	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr5:79285984-79287962	GM12891	blood:	n/a	n/a
26	PML	chr5:79285863-79287661	GM12878	blood:	n/a	n/a
27	HCFC1	chr5:79286184-79288020	Hela-S3	cervix:	n/a	n/a
28	BHLHE40	chr5:79286970-79287658	A549	lung:	n/a	chr5:79287113-79287122
29	NR2C2	chr5:79286520-79287598	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
MTX3	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13174295	1.00[AFR][1000 genomes]
rs13180294	1.00[AFR][1000 genomes]
rs17196706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17196895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2405136	1.00[AFR][1000 genomes]
rs71635001	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs72772243	0.96[EUR][1000 genomes]
rs72772256	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021113	chr5:79034662-79289828	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79285600-79287800	Active TSS	HMEC	breast
2	chr5:79285800-79288000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:79285800-79288000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr5:79286000-79287600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr5:79286000-79287600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:79286000-79287600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr5:79286000-79287800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:79286000-79288000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:79286000-79288000	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr5:79286000-79288000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:79286200-79287600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:79286200-79287600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:79286200-79287600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:79286200-79287600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr5:79286200-79287600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:79286200-79287600	Active TSS	Ovary	ovary
17	chr5:79286200-79287600	Active TSS	GM12878-XiMat	blood
18	chr5:79286200-79287800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr5:79286200-79287800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:79286200-79287800	Active TSS	Brain Substantia Nigra	brain
21	chr5:79286200-79287800	Active TSS	Colonic Mucosa	Colon
22	chr5:79286200-79288000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:79286400-79287600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:79286400-79287600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:79286400-79287600	Active TSS	Fetal Brain Female	brain
26	chr5:79286400-79287600	Active TSS	Fetal Lung	lung
27	chr5:79286400-79287600	Active TSS	Fetal Muscle Trunk	muscle
28	chr5:79286400-79287600	Flanking Active TSS	Fetal Thymus	thymus
29	chr5:79286400-79287800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:79286400-79287800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr5:79286400-79288000	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr5:79286600-79287600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr5:79286600-79287800	Active TSS	Brain Germinal Matrix	brain
34	chr5:79286600-79287800	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:79287000-79287800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:79287000-79288000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:79287000-79288000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:79287200-79287600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:79287200-79287600	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr5:79287200-79287600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr5:79287200-79287600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr5:79287200-79287600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr5:79287200-79287600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:79287200-79287600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:79287200-79287600	Flanking Active TSS	Liver	Liver
46	chr5:79287200-79287600	Flanking Active TSS	Fetal Stomach	stomach
47	chr5:79287200-79287600	Enhancers	Lung	lung
48	chr5:79287200-79287600	Flanking Active TSS	NH-A	brain
49	chr5:79287200-79287800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr5:79287200-79287800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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