Variant report

Variant	rs72779083
Chromosome Location	chr5:91977285-91977286
allele	C/T
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	NFIC	chr5:91977062-91977431	HepG2	liver:	n/a	chr5:91977259-91977276 chr5:91977260-91977276
2	FOXA2	chr5:91976399-91977614	HepG2	liver:	n/a	n/a
3	EP300	chr5:91976716-91977735	SK-N-SH	brain:	n/a	chr5:91976986-91976995 chr5:91977272-91977282
4	CHD2	chr5:91976832-91977526	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr5:91976957-91977513	MCF-7	breast:	n/a	n/a
6	JUND	chr5:91976723-91977696	SK-N-SH	brain:	n/a	chr5:91976879-91976891
7	MAX	chr5:91976851-91977484	Hela-S3	cervix:	n/a	n/a
8	NR2F2	chr5:91976990-91977519	HepG2	liver:	n/a	n/a
9	SP1	chr5:91976640-91977781	A549	lung:	n/a	chr5:91977514-91977523
10	FOXA1	chr5:91976733-91977600	HepG2	liver:	n/a	n/a
11	ZNF263	chr5:91976753-91977558	HEK293-T-REx	kidney:	n/a	n/a
12	EP300	chr5:91976887-91977650	ECC-1	luminal epithelium:	n/a	chr5:91976986-91976995 chr5:91977272-91977282
13	TCF7L2	chr5:91976822-91977518	HCT-116	colon:	n/a	n/a
14	RFX5	chr5:91976809-91977699	Hela-S3	cervix:	n/a	n/a
15	NFIC	chr5:91976907-91977711	ECC-1	luminal epithelium:	n/a	chr5:91977259-91977276 chr5:91977260-91977276
16	TCF12	chr5:91976089-91977885	A549	lung:	n/a	n/a
17	MAFK	chr5:91976978-91977547	Hela-S3	cervix:	n/a	n/a
18	ARID3A	chr5:91976876-91977418	HepG2	liver:	n/a	n/a
19	STAT3	chr5:91977246-91977482	MCF10A-Er-Src	breast:	n/a	chr5:91977301-91977312
20	TCF7L2	chr5:91977084-91977370	HepG2	liver:	n/a	n/a
21	GATA3	chr5:91976535-91977759	A549	lung:	n/a	n/a
22	BCL3	chr5:91976547-91977738	A549	lung:	n/a	chr5:91976642-91976651 chr5:91977303-91977312
23	FOXA2	chr5:91976766-91977406	HepG2	liver:	n/a	n/a
24	PBX3	chr5:91976728-91977634	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr5:91976687-91977646	PANC-1	pancreas:	n/a	n/a
26	GATA2	chr5:91976749-91977351	SH-SY5Y	brain:	n/a	n/a
27	SIX5	chr5:91976689-91977645	A549	lung:	n/a	n/a
28	GATA3	chr5:91976635-91977723	SK-N-SH	brain:	n/a	n/a
29	SP1	chr5:91976546-91977674	HCT-116	colon:	n/a	chr5:91977514-91977523
30	EP300	chr5:91976361-91977827	A549	lung:	n/a	chr5:91976986-91976995 chr5:91977272-91977282
31	SMC3	chr5:91976718-91977582	Hela-S3	cervix:	n/a	n/a
32	GATA3	chr5:91976570-91977732	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr5:91976669-91977638	MCF-7	breast:	n/a	n/a
34	STAT3	chr5:91976816-91977662	Hela-S3	cervix:	n/a	chr5:91977301-91977312
35	MXI1	chr5:91975866-91978160	SK-N-SH	brain:	n/a	n/a
36	FOXP2	chr5:91977135-91977628	SK-N-MC	brain:	n/a	n/a
37	SIX5	chr5:91977205-91977518	A549	lung:	n/a	n/a
38	MAX	chr5:91976855-91977555	SK-N-SH	brain:	n/a	n/a
39	FOXA1	chr5:91976732-91977511	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:91976757-91977286	SK-N-SH	brain:	n/a	n/a
41	NR3C1	chr5:91977142-91977406	A549	lung:	n/a	chr5:91977298-91977312
42	FOXA1	chr5:91976653-91977550	HepG2	liver:	n/a	n/a
43	KAP1	chr5:91976545-91977671	U2OS	brain:	n/a	n/a
44	POLR2A	chr5:91977132-91977580	SK-N-MC	brain:	n/a	n/a
45	MAFK	chr5:91976789-91977449	HepG2	liver:	n/a	n/a
46	FOSL2	chr5:91976592-91977685	A549	lung:	n/a	chr5:91976879-91976891
47	NFIC	chr5:91976740-91977777	SK-N-SH	brain:	n/a	chr5:91977259-91977276 chr5:91977260-91977276
48	TCF12	chr5:91976611-91977733	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr5:91976698-91977669	A549	lung:	n/a	n/a
50	ETS1	chr5:91976731-91977400	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:91971734..91973467-chr5:91976033..91978682,2	MCF-7	breast:
2	chr5:91975903..91977517-chr5:91980878..91982915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249776	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57500891	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62368464	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62368465	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv882379	chr5:91938705-92064532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91974000-91977800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:91975800-91978600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:91976000-91977400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:91976000-91977400	Enhancers	Brain Germinal Matrix	brain
5	chr5:91976000-91977400	Enhancers	Fetal Heart	heart
6	chr5:91976200-91977400	Enhancers	Fetal Brain Female	brain
7	chr5:91976200-91977600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:91976200-91978200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:91976200-91978600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:91976400-91977600	Enhancers	Left Ventricle	heart
11	chr5:91976400-91978200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:91976600-91977600	Flanking Active TSS	Fetal Kidney	kidney
13	chr5:91976600-91978000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:91976600-91978200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:91976600-91978200	Enhancers	Colon Smooth Muscle	Colon
16	chr5:91976800-91977400	Active TSS	Aorta	Aorta
17	chr5:91976800-91977400	Active TSS	Brain Cingulate Gyrus	brain
18	chr5:91976800-91977400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr5:91976800-91977400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:91976800-91977600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:91976800-91977600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:91976800-91977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:91976800-91977600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:91976800-91977600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr5:91976800-91977600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:91976800-91977600	Active TSS	Brain Angular Gyrus	brain
27	chr5:91976800-91977600	Enhancers	Fetal Muscle Leg	muscle
28	chr5:91976800-91977600	Active TSS	Right Atrium	heart
29	chr5:91976800-91977600	Enhancers	Small Intestine	intestine
30	chr5:91976800-91977600	Active TSS	Stomach Smooth Muscle	stomach
31	chr5:91976800-91977600	Flanking Active TSS	HUVEC	blood vessel
32	chr5:91976800-91977600	Flanking Active TSS	NH-A	brain
33	chr5:91976800-91977800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:91976800-91978200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:91977000-91977400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:91977000-91977400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:91977000-91977400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:91977000-91977400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:91977000-91977400	Active TSS	Liver	Liver
40	chr5:91977000-91977400	Active TSS	Brain Anterior Caudate	brain
41	chr5:91977000-91977400	Active TSS	Duodenum Mucosa	Duodenum
42	chr5:91977000-91977400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr5:91977000-91977400	Active TSS	Fetal Intestine Large	intestine
44	chr5:91977000-91977400	Active TSS	Fetal Intestine Small	intestine
45	chr5:91977000-91977400	Active TSS	Fetal Muscle Trunk	muscle
46	chr5:91977000-91977400	Active TSS	Fetal Stomach	stomach
47	chr5:91977000-91977400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr5:91977000-91977400	Active TSS	Hela-S3	cervix
49	chr5:91977000-91977400	Active TSS	HepG2	liver
50	chr5:91977000-91977400	Flanking Active TSS	HMEC	breast

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