Variant report

Variant	rs73699980
Chromosome Location	chr8:107671369-107671370
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	SPI1	chr8:107670572-107671531	GM12878	blood:	n/a	chr8:107671000-107671009 chr8:107670996-107671005
2	CHD1	chr8:107669064-107671535	IMR90	lung:	n/a	chr8:107669794-107669804
3	POLR2A	chr8:107669508-107671420	GM18505	blood:	n/a	n/a
4	MXI1	chr8:107671357-107671557	K562	blood:	n/a	n/a
5	MAX	chr8:107669575-107671515	K562	blood:	n/a	chr8:107670065-107670075
6	POLR2A	chr8:107669142-107672076	MCF10A-Er-Src	breast:	n/a	n/a
7	SIN3AK20	chr8:107669419-107671369	MCF-7	breast:	n/a	n/a
8	MAX	chr8:107671315-107671563	K562	blood:	n/a	n/a
9	MYC	chr8:107671333-107672116	MCF10A-Er-Src	breast:	n/a	chr8:107671924-107671931

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
ENSG00000253676	Chromatin interaction
ENSG00000164830	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1080966	1.00[EUR][1000 genomes]
rs13257240	0.94[AMR][1000 genomes]
rs13264508	0.88[AMR][1000 genomes]
rs13265873	0.88[AMR][1000 genomes]
rs13269933	0.82[AMR][1000 genomes]
rs16874889	0.88[AMR][1000 genomes]
rs16875042	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16875077	1.00[EUR][1000 genomes]
rs17258979	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2035514	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28921377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28921399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28921400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28921407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28924682	0.88[AMR][1000 genomes];1.00[EUR][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]
rs35783079	0.88[AMR][1000 genomes]
rs36134646	0.88[AMR][1000 genomes]
rs3739323	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][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];0.88[ASN][1000 genomes]
rs57400955	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58713013	0.88[AMR][1000 genomes]
rs71522785	0.88[AMR][1000 genomes]
rs73699979	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];0.88[ASN][1000 genomes]
rs73699996	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73699998	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7831263	0.82[AMR][1000 genomes]
rs7843781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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:120 , 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	chr8:107668800-107672000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr8:107669000-107671600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:107669000-107671800	Active TSS	Right Atrium	heart
6	chr8:107669000-107671800	Active TSS	K562	blood
7	chr8:107669200-107671400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:107669200-107671400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:107669200-107671400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:107669200-107671400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:107669200-107671400	Active TSS	Ovary	ovary
12	chr8:107669200-107671400	Active TSS	Stomach Smooth Muscle	stomach
13	chr8:107669200-107671400	Active TSS	GM12878-XiMat	blood
14	chr8:107669200-107671600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr8:107669200-107671600	Active TSS	Psoas Muscle	Psoas
16	chr8:107669200-107672000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:107669200-107672000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:107669200-107672000	Active TSS	Right Ventricle	heart
19	chr8:107669200-107672600	Active TSS	Aorta	Aorta
20	chr8:107669400-107671400	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr8:107669400-107671400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:107669400-107671400	Active TSS	Brain Anterior Caudate	brain
23	chr8:107669400-107671400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr8:107669400-107671400	Active TSS	Fetal Intestine Large	intestine
25	chr8:107669400-107671400	Active TSS	Fetal Stomach	stomach
26	chr8:107669400-107671400	Active TSS	Left Ventricle	heart
27	chr8:107669400-107671400	Active TSS	NHEK	skin
28	chr8:107669400-107671600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:107669400-107671600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr8:107669600-107671400	Active TSS	Colon Smooth Muscle	Colon
31	chr8:107669600-107671400	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr8:107669600-107671400	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr8:107669800-107671800	Active TSS	HepG2	liver
34	chr8:107670400-107671600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr8:107670400-107671800	Active TSS	Colonic Mucosa	Colon
36	chr8:107670400-107672400	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr8:107670600-107671400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:107670600-107671400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:107670600-107671600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:107670600-107672000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:107670600-107672200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:107670600-107672600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:107670600-107672800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:107670800-107671400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:107670800-107671400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:107670800-107671400	Flanking Active TSS	Fetal Kidney	kidney
47	chr8:107670800-107671600	Active TSS	Brain Germinal Matrix	brain
48	chr8:107670800-107671600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:107670800-107671600	Flanking Active TSS	HUVEC	blood vessel
50	chr8:107670800-107671800	Flanking Active TSS	Primary T cells from cord blood	blood

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