Variant report

Variant	rs73699979
Chromosome Location	chr8:107671153-107671154
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	MXI1	chr8:107670594-107671256	GM12878	blood:	n/a	n/a
2	EP300	chr8:107670578-107671194	GM12878	blood:	n/a	chr8:107671006-107671016 chr8:107670996-107671010
3	MTA3	chr8:107669280-107671306	GM12878	blood:	n/a	n/a
4	CUX1	chr8:107670887-107671335	GM12878	blood:	n/a	n/a
5	SPI1	chr8:107670572-107671531	GM12878	blood:	n/a	chr8:107671000-107671009 chr8:107670996-107671005
6	NFIC	chr8:107670572-107671252	GM12878	blood:	n/a	n/a
7	NFIC	chr8:107670510-107671304	GM12878	blood:	n/a	n/a
8	CHD1	chr8:107669064-107671535	IMR90	lung:	n/a	chr8:107669794-107669804
9	MAX	chr8:107669521-107671199	GM12878	blood:	n/a	chr8:107670065-107670075
10	SPI1	chr8:107670423-107671326	HL-60	blood:	n/a	chr8:107671000-107671009 chr8:107670996-107671005
11	CREB1	chr8:107670506-107671305	GM12878	blood:	n/a	n/a
12	MAX	chr8:107669378-107671172	NB4	blood:	n/a	chr8:107670065-107670075
13	ATF2	chr8:107670521-107671235	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:107669508-107671420	GM18505	blood:	n/a	n/a
15	POLR2A	chr8:107669509-107671155	GM19099	blood:	n/a	n/a
16	MAX	chr8:107669538-107671216	ECC-1	luminal epithelium:	n/a	chr8:107670065-107670075
17	ELF1	chr8:107670738-107671154	GM12878	blood:	n/a	n/a
18	IRF4	chr8:107670468-107671261	GM12878	blood:	n/a	chr8:107670802-107670816
19	MAX	chr8:107669567-107671327	Hela-S3	cervix:	n/a	chr8:107670065-107670075
20	MAX	chr8:107669575-107671515	K562	blood:	n/a	chr8:107670065-107670075
21	RCOR1	chr8:107670633-107671308	GM12878	blood:	n/a	n/a
22	FOXM1	chr8:107670619-107671245	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:107669440-107671254	GM12878	blood:	n/a	n/a
24	E2F6	chr8:107670487-107671161	A549	lung:	n/a	n/a
25	E2F4	chr8:107670491-107671216	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr8:107669495-107671221	A549	lung:	n/a	chr8:107670065-107670075
27	BATF	chr8:107670789-107671191	GM12878	blood:	n/a	chr8:107671069-107671078
28	POLR2A	chr8:107669142-107672076	MCF10A-Er-Src	breast:	n/a	n/a
29	RUNX3	chr8:107670533-107671275	GM12878	blood:	n/a	n/a
30	SPI1	chr8:107670885-107671190	HL-60	blood:	n/a	chr8:107671000-107671009 chr8:107670996-107671005
31	ZNF384	chr8:107670731-107671281	GM12878	blood:	n/a	n/a
32	EBF1	chr8:107670759-107671183	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:107669347-107671165	MCF10A-Er-Src	breast:	n/a	n/a
34	PAX5	chr8:107670409-107671203	GM12878	blood:	n/a	chr8:107670996-107671005 chr8:107671151-107671161 chr8:107670999-107671008
35	BHLHE40	chr8:107669643-107671219	GM12878	blood:	n/a	chr8:107670549-107670565 chr8:107670557-107670573
36	ATF2	chr8:107670513-107671278	GM12878	blood:	n/a	n/a
37	MYC	chr8:107669567-107671191	NB4	blood:	n/a	chr8:107670065-107670075
38	SPI1	chr8:107670779-107671165	GM12878	blood:	n/a	chr8:107671000-107671009 chr8:107670996-107671005
39	PML	chr8:107670520-107671270	GM12878	blood:	n/a	n/a
40	BATF	chr8:107670908-107671186	GM12878	blood:	n/a	chr8:107671069-107671078
41	IRF4	chr8:107670671-107671242	GM12878	blood:	n/a	chr8:107670802-107670816
42	CHD2	chr8:107670651-107671269	GM12878	blood:	n/a	n/a
43	EP300	chr8:107670593-107671255	GM12878	blood:	n/a	chr8:107671006-107671016 chr8:107670996-107671010
44	MAX	chr8:107669477-107671268	MCF-7	breast:	n/a	chr8:107670065-107670075
45	SP1	chr8:107670778-107671203	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:107669503-107671156	GM12892	blood:	n/a	n/a
47	POLR2A	chr8:107669486-107671214	HL-60	blood:	n/a	n/a
48	CHD1	chr8:107670637-107671304	GM12878	blood:	n/a	n/a
49	SIN3AK20	chr8:107669309-107671345	MCF-7	breast:	n/a	n/a
50	EP300	chr8:107670680-107671220	GM12878	blood:	n/a	chr8:107671006-107671016 chr8:107670996-107671010

No.	Distal block	Cell Line	Cell type
1	chr8:107628700..107633249-chr8:107668680..107671616,7	MCF-7	breast:
2	chr8:107628207..107632288-chr8:107667853..107671892,6	MCF-7	breast:
3	chr8:107670007..107671645-chr8:107694032..107695827,2	K562	blood:
4	chr8:107670148..107672369-chr8:107708725..107710422,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253582	TF binding region
ENSG00000164830	Chromatin interaction
ENSG00000253676	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1080966	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12676088	0.81[ASN][1000 genomes]
rs12678473	0.81[ASN][1000 genomes]
rs13257240	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13258304	0.81[ASN][1000 genomes]
rs13264508	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13265873	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13269933	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13272833	0.81[ASN][1000 genomes]
rs13277585	0.81[ASN][1000 genomes]
rs13277874	0.81[ASN][1000 genomes]
rs13279290	0.81[ASN][1000 genomes]
rs16874889	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16875042	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16875077	1.00[EUR][1000 genomes]
rs17258979	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17342697	0.81[ASN][1000 genomes]
rs17342815	0.81[ASN][1000 genomes]
rs17342850	0.81[ASN][1000 genomes]
rs2035514	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2061684	0.81[ASN][1000 genomes]
rs2061685	0.81[ASN][1000 genomes]
rs28921377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28921399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28921400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28921407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924682	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28924693	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28924699	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35029850	0.81[ASN][1000 genomes]
rs35783079	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs36134646	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3739323	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56171452	1.00[EUR][1000 genomes]
rs57273012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57378512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57400955	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58713013	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs71522785	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73699980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73699981	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73699996	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73699998	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7831263	0.82[AMR][1000 genomes]
rs7843781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107667000-107671400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:107668600-107672200	Active TSS	Rectal Smooth Muscle	rectum
3	chr8:107668800-107671200	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr8:107668800-107672000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr8:107669000-107671200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:107669000-107671600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:107669000-107671800	Active TSS	Right Atrium	heart
8	chr8:107669000-107671800	Active TSS	K562	blood
9	chr8:107669200-107671200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:107669200-107671200	Active TSS	Primary monocytes fromperipheralblood	blood
11	chr8:107669200-107671200	Active TSS	Primary T cells fromperipheralblood	blood
12	chr8:107669200-107671200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:107669200-107671200	Active TSS	Brain Hippocampus Middle	brain
14	chr8:107669200-107671200	Active TSS	Fetal Intestine Small	intestine
15	chr8:107669200-107671200	Active TSS	Fetal Lung	lung
16	chr8:107669200-107671200	Active TSS	Fetal Muscle Trunk	muscle
17	chr8:107669200-107671200	Active TSS	Fetal Muscle Leg	muscle
18	chr8:107669200-107671200	Active TSS	Fetal Thymus	thymus
19	chr8:107669200-107671200	Active TSS	Stomach Mucosa	stomach
20	chr8:107669200-107671400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:107669200-107671400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:107669200-107671400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:107669200-107671400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:107669200-107671400	Active TSS	Ovary	ovary
25	chr8:107669200-107671400	Active TSS	Stomach Smooth Muscle	stomach
26	chr8:107669200-107671400	Active TSS	GM12878-XiMat	blood
27	chr8:107669200-107671600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr8:107669200-107671600	Active TSS	Psoas Muscle	Psoas
29	chr8:107669200-107672000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr8:107669200-107672000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr8:107669200-107672000	Active TSS	Right Ventricle	heart
32	chr8:107669200-107672600	Active TSS	Aorta	Aorta
33	chr8:107669400-107671200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr8:107669400-107671200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:107669400-107671200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:107669400-107671200	Active TSS	Liver	Liver
37	chr8:107669400-107671200	Active TSS	Brain Angular Gyrus	brain
38	chr8:107669400-107671200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr8:107669400-107671200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:107669400-107671200	Active TSS	Brain Substantia Nigra	brain
41	chr8:107669400-107671200	Active TSS	Esophagus	oesophagus
42	chr8:107669400-107671200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr8:107669400-107671200	Active TSS	HSMMtube	muscle
44	chr8:107669400-107671400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr8:107669400-107671400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:107669400-107671400	Active TSS	Brain Anterior Caudate	brain
47	chr8:107669400-107671400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr8:107669400-107671400	Active TSS	Fetal Intestine Large	intestine
49	chr8:107669400-107671400	Active TSS	Fetal Stomach	stomach
50	chr8:107669400-107671400	Active TSS	Left Ventricle	heart

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