Variant report

Variant	rs72647329
Chromosome Location	chr8:126443711-126443712
allele	A/C/G/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	BCL3	chr8:126443417-126444453	A549	lung:	n/a	chr8:126443669-126443678 chr8:126444212-126444220
2	POLR2A	chr8:126441302-126444624	NB4	blood:	n/a	n/a
3	SMC3	chr8:126440994-126445244	SK-N-SH	brain:	n/a	chr8:126444444-126444458 chr8:126445127-126445137 chr8:126442868-126442878 chr8:126441364-126441372 chr8:126442236-126442246
4	TBP	chr8:126443533-126444345	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr8:126443462-126451263	HepG2	liver:	n/a	n/a
6	RAD21	chr8:126443300-126444706	MCF-7	breast:	n/a	chr8:126444440-126444459
7	POLR2A	chr8:126441783-126444482	GM12892	blood:	n/a	n/a
8	SMARCB1	chr8:126441266-126444621	Hela-S3	cervix:	n/a	chr8:126442524-126442533
9	YY1	chr8:126443561-126444169	A549	lung:	n/a	chr8:126443850-126443861
10	MYC	chr8:126443439-126444591	MCF10A-Er-Src	breast:	n/a	chr8:126443763-126443772
11	POLR2A	chr8:126441146-126444545	K562	blood:	n/a	n/a
12	RAD21	chr8:126443606-126443967	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr8:126441280-126446423	Hela-S3	cervix:	n/a	n/a
14	SMARCC1	chr8:126441764-126444435	Hela-S3	cervix:	n/a	chr8:126442524-126442533
15	TAF1	chr8:126442836-126444243	K562	blood:	n/a	n/a
16	JUN	chr8:126441105-126445214	K562	blood:	n/a	chr8:126442097-126442106 chr8:126441646-126441655 chr8:126441142-126441154 chr8:126444753-126444765 chr8:126442520-126442531 chr8:126442524-126442533 chr8:126441534-126441543
17	POLR2A	chr8:126441272-126444905	GM19099	blood:	n/a	n/a
18	SIX5	chr8:126443474-126444246	A549	lung:	n/a	n/a
19	GATA2	chr8:126443454-126444499	K562	blood:	n/a	chr8:126443626-126443633 chr8:126443626-126443633 chr8:126443626-126443633 chr8:126443623-126443635
20	POLR2A	chr8:126443503-126444110	HepG2	liver:	n/a	n/a
21	ELF1	chr8:126441167-126445416	MCF-7	breast:	n/a	chr8:126442808-126442817 chr8:126442814-126442823 chr8:126443062-126443074 chr8:126442816-126442828 chr8:126442810-126442822
22	GATA3	chr8:126443422-126443859	T-47D	breast:	n/a	chr8:126443626-126443633 chr8:126443626-126443633 chr8:126443626-126443633 chr8:126443623-126443635
23	POLR2A	chr8:126443670-126444321	PANC-1	pancreas:	n/a	n/a
24	REST	chr8:126443314-126444361	A549	lung:	n/a	chr8:126443511-126443524 chr8:126443514-126443527 chr8:126444327-126444340
25	ATF3	chr8:126443685-126444542	A549	lung:	n/a	n/a
26	REST	chr8:126440902-126445170	H1-neurons	neurons:	n/a	chr8:126443511-126443524 chr8:126441814-126441834 chr8:126442772-126442785 chr8:126443514-126443527 chr8:126444327-126444340 chr8:126442059-126442077
27	JUND	chr8:126441175-126444754	MCF-7	breast:	n/a	chr8:126442522-126442533 chr8:126442097-126442106 chr8:126441646-126441655 chr8:126442520-126442531 chr8:126442524-126442533 chr8:126441534-126441543
28	YY1	chr8:126443105-126444351	ECC-1	luminal epithelium:	n/a	chr8:126443850-126443861
29	RCOR1	chr8:126443622-126444556	GM12878	blood:	n/a	n/a
30	YY1	chr8:126443557-126443929	SK-N-SH_RA	brain:	n/a	chr8:126443850-126443861
31	SIN3AK20	chr8:126443371-126444563	A549	lung:	n/a	n/a
32	RUNX3	chr8:126443479-126443862	GM12878	blood:	n/a	n/a
33	MAX	chr8:126440986-126445378	A549	lung:	n/a	chr8:126445237-126445247 chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
34	RAD21	chr8:126441332-126445623	IMR90	lung:	n/a	chr8:126444440-126444459 chr8:126442868-126442878 chr8:126441997-126442010
35	ATF3	chr8:126443581-126444558	A549	lung:	n/a	n/a
36	STAT5A	chr8:126443422-126444643	GM12878	blood:	n/a	chr8:126444503-126444511 chr8:126443847-126443859 chr8:126443849-126443861
37	POLR2A	chr8:126441319-126446312	Hela-S3	cervix:	n/a	n/a
38	ELF1	chr8:126443206-126444639	GM12878	blood:	n/a	n/a
39	MAX	chr8:126441069-126444653	A549	lung:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
40	ZBTB7A	chr8:126443167-126444392	ECC-1	luminal epithelium:	n/a	n/a
41	SIN3AK20	chr8:126443589-126444587	A549	lung:	n/a	n/a
42	RAD21	chr8:126443693-126444816	HepG2	liver:	n/a	chr8:126444440-126444459
43	POLR2A	chr8:126441780-126444480	GM12878	blood:	n/a	n/a
44	EP300	chr8:126443652-126444546	A549	lung:	n/a	chr8:126443685-126443693
45	SPI1	chr8:126443602-126443804	K562	blood:	n/a	chr8:126443704-126443711 chr8:126443789-126443798
46	CHD2	chr8:126443570-126444559	GM12878	blood:	n/a	n/a
47	GATA3	chr8:126443555-126443773	SH-SY5Y	brain:	n/a	chr8:126443626-126443633 chr8:126443626-126443633 chr8:126443626-126443633 chr8:126443623-126443635
48	RAD21	chr8:126441039-126445579	SK-N-SH	brain:	n/a	chr8:126444440-126444459 chr8:126442868-126442878 chr8:126441997-126442010
49	MTA3	chr8:126443326-126444575	GM12878	blood:	n/a	n/a
50	TCF12	chr8:126443594-126444552	ECC-1	luminal epithelium:	n/a	chr8:126443802-126443810 chr8:126443914-126443921 chr8:126443910-126443920

No.	Distal block	Cell Line	Cell type
1	chr1:17231301..17232205-chr8:126443378..126443976,2	HCT-116	colon:
2	chr8:126281825..126283978-chr8:126442164..126443779,2	K562	blood:
3	chr8:126443664..126444354-chr9:137000189..137001139,2	HCT-116	colon:
4	chr8:126282715..126285336-chr8:126442503..126444209,2	MCF-7	breast:
5	chr12:50135344..50136171-chr8:126443648..126444329,2	Hela-S3	cervix:
6	chr8:126319216..126321150-chr8:126442622..126444295,2	MCF-7	breast:
7	chr8:126112294..126114961-chr8:126440449..126443868,3	MCF-7	breast:
8	chr8:126441684..126444249-chr8:127568995..127571626,4	MCF-7	breast:
9	chr19:36544227..36545755-chr8:126441431..126444271,2	MCF-7	breast:
10	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
11	chr8:126103818..126106100-chr8:126441528..126444004,2	K562	blood:
12	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
13	chr8:126442729..126444290-chr8:126611048..126613106,2	MCF-7	breast:
14	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:
15	chr1:228270694..228272754-chr8:126441550..126443960,2	MCF-7	breast:

Variant related genes	Relation type
TRIB1	TF binding region
ENSG00000164961	Chromatin interaction
ENSG00000196363	Chromatin interaction
ENSG00000242170	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000254286	Chromatin interaction
ENSG00000168672	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000254010	Chromatin interaction
ENSG00000273249	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72655680	1.00[AFR][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	esv3366048	chr8:126440820-126444518	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126441200-126444600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:126441200-126444600	Active TSS	Brain Angular Gyrus	brain
3	chr8:126441200-126444600	Active TSS	Fetal Lung	lung
4	chr8:126441200-126444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:126441200-126444800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:126441200-126444800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:126441200-126444800	Active TSS	Placenta Amnion	Placenta Amnion
8	chr8:126441200-126444800	Active TSS	Right Ventricle	heart
9	chr8:126441200-126444800	Active TSS	HSMM	muscle
10	chr8:126441200-126444800	Active TSS	HSMMtube	muscle
11	chr8:126441200-126444800	Active TSS	NHDF-Ad	bronchial
12	chr8:126441200-126445000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:126441200-126445000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr8:126441200-126445000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr8:126441200-126445000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:126441200-126445200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:126441200-126445600	Active TSS	Gastric	stomach
18	chr8:126441200-126445600	Active TSS	Small Intestine	intestine
19	chr8:126441400-126444600	Active TSS	Colon Smooth Muscle	Colon
20	chr8:126441400-126444600	Active TSS	Fetal Stomach	stomach
21	chr8:126441400-126444800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:126441400-126444800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:126441400-126444800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:126441400-126444800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:126441400-126444800	Active TSS	Brain Anterior Caudate	brain
26	chr8:126441400-126444800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:126441400-126444800	Active TSS	Fetal Kidney	kidney
28	chr8:126441400-126444800	Active TSS	Stomach Mucosa	stomach
29	chr8:126441400-126445000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:126441400-126445000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr8:126441400-126445000	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:126441400-126445000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr8:126441400-126445000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:126441400-126445000	Active TSS	Aorta	Aorta
35	chr8:126441400-126445600	Active TSS	Lung	lung
36	chr8:126441600-126443800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:126441600-126443800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:126441600-126443800	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr8:126441600-126444000	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr8:126441600-126444600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:126441600-126444600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:126441600-126444600	Active TSS	Brain Cingulate Gyrus	brain
43	chr8:126441600-126444600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:126441600-126444600	Active TSS	Hela-S3	cervix
45	chr8:126441600-126444600	Active TSS	NHEK	skin
46	chr8:126441600-126444800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:126441600-126444800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:126441600-126444800	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr8:126441600-126444800	Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr8:126441600-126444800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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