Variant report

Variant	rs73684686
Chromosome Location	chr8:64083387-64083388
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	TBL1XR1	chr8:64083219-64083442	K562	blood:	n/a	n/a
2	POLR2A	chr8:64083278-64083516	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:64081889-64085432	K562	blood:	n/a	n/a
4	CEBPB	chr8:64083082-64083420	K562	blood:	n/a	chr8:64083251-64083262 chr8:64083251-64083264
5	CEBPB	chr8:64080359-64083409	Hela-S3	cervix:	n/a	chr8:64083251-64083262 chr8:64083251-64083264 chr8:64081994-64082005

No.	Distal block	Cell Line	Cell type
1	chr8:64080072..64082539-chr8:64083012..64086362,4	MCF-7	breast:
2	chr8:64082275..64083966-chr8:64093925..64095501,2	MCF-7	breast:
3	chr13:40276171..40277739-chr8:64083128..64085038,2	MCF-7	breast:

Variant related genes	Relation type
YTHDF3-AS1	TF binding region
ENSG00000270673	Chromatin interaction
ENSG00000185728	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10957275	0.87[EUR][1000 genomes]
rs12056447	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12542182	0.87[EUR][1000 genomes]
rs12542741	0.85[EUR][1000 genomes]
rs12547669	0.85[EUR][1000 genomes]
rs12549833	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12550222	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550793	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12677153	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12678231	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1975246	0.80[EUR][1000 genomes]
rs2241753	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34803356	0.85[EUR][1000 genomes]
rs3857972	0.87[EUR][1000 genomes]
rs3929126	0.87[EUR][1000 genomes]
rs4601308	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4737633	0.82[EUR][1000 genomes]
rs4739053	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4739066	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4739068	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61223024	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6983011	0.87[EUR][1000 genomes]
rs7000495	0.87[EUR][1000 genomes]
rs7000788	0.87[EUR][1000 genomes]
rs7000927	0.87[EUR][1000 genomes]
rs7001014	0.87[EUR][1000 genomes]
rs7011111	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73254967	0.87[EUR][1000 genomes]
rs73254968	0.87[EUR][1000 genomes]
rs73684689	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73686707	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73686709	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9643383	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9643384	0.87[EUR][1000 genomes]
rs9643556	0.87[EUR][1000 genomes]
rs9643557	0.87[EUR][1000 genomes]
rs9643558	0.87[EUR][1000 genomes]
rs9643559	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[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	nsv890965	chr8:64006201-64104092	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv890966	chr8:64073650-64099240	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr8:64080000-64083400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:64080000-64083400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:64080000-64083400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:64080000-64083800	Active TSS	GM12878-XiMat	blood
5	chr8:64080000-64084200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:64080200-64083400	Active TSS	HMEC	breast
7	chr8:64080200-64083800	Active TSS	Fetal Intestine Large	intestine
8	chr8:64080200-64084400	Active TSS	Psoas Muscle	Psoas
9	chr8:64081400-64084200	Active TSS	Right Atrium	heart
10	chr8:64081800-64083400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:64081800-64085200	Weak transcription	Spleen	Spleen
12	chr8:64082000-64083400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
13	chr8:64082000-64092200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:64082000-64098800	Weak transcription	Esophagus	oesophagus
15	chr8:64082000-64099000	Weak transcription	Gastric	stomach
16	chr8:64082200-64083400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:64082200-64083600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
18	chr8:64082200-64083600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:64082200-64085200	Weak transcription	Pancreas	Pancrea
20	chr8:64082200-64088800	Weak transcription	Left Ventricle	heart
21	chr8:64082200-64092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:64082200-64098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:64082200-64098600	Weak transcription	Lung	lung
24	chr8:64082400-64083800	Weak transcription	Placenta	Placenta
25	chr8:64082400-64084000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
26	chr8:64082400-64084200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
27	chr8:64082400-64084400	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr8:64082400-64084600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:64082400-64085800	Weak transcription	Aorta	Aorta
30	chr8:64082400-64098800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:64082600-64083400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr8:64082600-64083400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:64082600-64083600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:64082600-64083600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:64082600-64083600	Enhancers	Liver	Liver
36	chr8:64082600-64083600	Enhancers	Fetal Brain Male	brain
37	chr8:64082600-64083800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:64082600-64083800	Weak transcription	Stomach Mucosa	stomach
39	chr8:64082600-64084000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:64082600-64084200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:64082600-64084200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:64082600-64084200	Transcr. at gene 5' and 3'	HepG2	liver
43	chr8:64082600-64084400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:64082600-64084400	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:64082600-64084400	Active TSS	Ovary	ovary
46	chr8:64082600-64085000	Weak transcription	Right Ventricle	heart
47	chr8:64082600-64085200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:64082600-64085200	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:64082600-64085800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:64082600-64086200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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