Variant report

Variant	rs73584759
Chromosome Location	chr8:50822031-50822032
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	E2F6	chr8:50821848-50822887	H1-hESC	embryonic stem cell:	n/a	chr8:50821961-50821978
2	RAD21	chr8:50822003-50822610	SK-N-SH	brain:	n/a	chr8:50822377-50822391
3	RAD21	chr8:50821893-50822891	H1-hESC	embryonic stem cell:	n/a	chr8:50822377-50822391 chr8:50822785-50822799
4	CTCF	chr8:50821983-50822676	SK-N-SH	brain:	n/a	chr8:50822592-50822605
5	MAX	chr8:50821894-50822179	NB4	blood:	n/a	chr8:50822017-50822028 chr8:50822016-50822026 chr8:50822020-50822027 chr8:50822017-50822028 chr8:50822018-50822027 chr8:50822016-50822029 chr8:50822017-50822028
6	MAX	chr8:50821895-50822831	H1-hESC	embryonic stem cell:	n/a	chr8:50822017-50822028 chr8:50822016-50822026 chr8:50822020-50822027 chr8:50822017-50822028 chr8:50822018-50822027 chr8:50822016-50822029 chr8:50822017-50822028
7	MAX	chr8:50821878-50822755	H1-hESC	embryonic stem cell:	n/a	chr8:50822017-50822028 chr8:50822016-50822026 chr8:50822020-50822027 chr8:50822017-50822028 chr8:50822018-50822027 chr8:50822016-50822029 chr8:50822017-50822028
8	POLR2A	chr8:50821371-50822097	SK-N-MC	brain:	n/a	n/a
9	CTCF	chr8:50821920-50822070	HFF	foreskin:	n/a	n/a

Variant related genes	Relation type
ENSG00000271148	TF binding region
SNTG1	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10113044	1.00[AMR][1000 genomes]
rs16913838	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16913859	1.00[AMR][1000 genomes]
rs16913881	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16913981	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16914042	1.00[AMR][1000 genomes]
rs16914070	1.00[AMR][1000 genomes]
rs223081	1.00[ASN][1000 genomes]
rs2306742	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2449957	1.00[ASN][1000 genomes]
rs28529396	1.00[AMR][1000 genomes]
rs318872	1.00[ASN][1000 genomes]
rs318873	1.00[ASN][1000 genomes]
rs318875	1.00[ASN][1000 genomes]
rs415276	1.00[ASN][1000 genomes]
rs57307349	1.00[AMR][1000 genomes]
rs57882761	1.00[AMR][1000 genomes]
rs58254228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58520473	1.00[AMR][1000 genomes]
rs58740018	1.00[EUR][1000 genomes]
rs59272691	1.00[EUR][1000 genomes]
rs59841322	1.00[EUR][1000 genomes]
rs60153766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60356093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61374770	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73569305	1.00[AMR][1000 genomes]
rs73569306	1.00[AMR][1000 genomes]
rs73569315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73569317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73569327	1.00[AMR][1000 genomes]
rs73569333	1.00[AMR][1000 genomes]
rs73569338	1.00[AMR][1000 genomes]
rs73569339	1.00[AMR][1000 genomes]
rs73569343	1.00[AMR][1000 genomes]
rs73584719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73584758	1.00[AMR][1000 genomes]
rs73584763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73584765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73584768	1.00[AMR][1000 genomes]
rs73584770	1.00[AMR][1000 genomes]
rs73584771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73584773	1.00[AMR][1000 genomes]
rs73676082	1.00[AMR][1000 genomes]
rs73677815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834858	1.00[EUR][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	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50821000-50824400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:50821400-50824600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:50821400-50825000	Active TSS	Fetal Brain Female	brain
4	chr8:50821400-50826800	Active TSS	Fetal Brain Male	brain
5	chr8:50821600-50822200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr8:50821600-50822600	Enhancers	Liver	Liver
7	chr8:50821600-50823000	Active TSS	Brain Angular Gyrus	brain
8	chr8:50821600-50824400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:50821600-50824600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:50821600-50824600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:50821600-50829000	Active TSS	Brain Germinal Matrix	brain
12	chr8:50821800-50822200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:50821800-50822200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:50821800-50822200	Active TSS	Brain Cingulate Gyrus	brain
15	chr8:50821800-50822200	Active TSS	Brain Hippocampus Middle	brain
16	chr8:50821800-50822200	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr8:50821800-50822200	Flanking Active TSS	NH-A	brain
18	chr8:50821800-50822400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:50821800-50822600	Bivalent Enhancer	Fetal Lung	lung
20	chr8:50821800-50823000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:50821800-50823200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:50821800-50823200	Active TSS	Brain Anterior Caudate	brain
23	chr8:50821800-50823400	Active TSS	NHDF-Ad	bronchial
24	chr8:50821800-50824200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:50821800-50824800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr8:50821800-50825200	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr8:50821800-50827800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:50821800-50828600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:50822000-50822200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr8:50822000-50822200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr8:50822000-50822200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
32	chr8:50822000-50822200	Bivalent/Poised TSS	HMEC	breast
33	chr8:50822000-50822400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:50822000-50822400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:50822000-50822400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:50822000-50822800	Active TSS	HepG2	liver
37	chr8:50822000-50823400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
38	chr8:50822000-50823600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:50822000-50824000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr8:50822000-50824000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:50822000-50824400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:50822000-50824400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:50822000-50824600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:50822000-50824600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:50822000-50828400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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