Variant report

Variant	rs73584768
Chromosome Location	chr8:50824159-50824160
allele	C/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	REST	chr8:50822049-50824821	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
2	TEAD4	chr8:50824136-50824507	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr8:50823829-50824541	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
4	POLR2A	chr8:50824148-50824464	MCF-7	breast:	n/a	n/a
5	RAD21	chr8:50823988-50824426	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr8:50824092-50824433	HepG2	liver:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
7	REST	chr8:50824121-50824485	U87	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
8	REST	chr8:50824134-50824480	SK-N-SH	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
9	YY1	chr8:50824138-50824380	HepG2	liver:	n/a	n/a
10	REST	chr8:50823774-50824665	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
11	FOXP2	chr8:50824146-50824440	PFSK-1	brain:	n/a	n/a
12	REST	chr8:50823982-50824581	ECC-1	luminal epithelium:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
13	REST	chr8:50823868-50824734	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
14	REST	chr8:50823806-50824635	U87	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
15	TBP	chr8:50824129-50824448	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr8:50824036-50824488	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr8:50824150-50824397	SK-N-SH	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
18	REST	chr8:50823826-50824619	HepG2	liver:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
19	MAX	chr8:50824077-50824464	MCF-7	breast:	n/a	n/a
20	REST	chr8:50824117-50824446	GM12878	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
21	REST	chr8:50824101-50824390	K562	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
22	REST	chr8:50823682-50824756	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
23	RAD21	chr8:50824033-50824516	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr8:50822051-50824817	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
25	REST	chr8:50824034-50824452	K562	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
26	REST	chr8:50824088-50824491	HepG2	liver:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
27	FOXP2	chr8:50824057-50824430	SK-N-MC	brain:	n/a	n/a
28	REST	chr8:50824075-50824482	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
29	SIN3AK20	chr8:50824136-50824436	H1-hESC	embryonic stem cell:	n/a	n/a
30	HDAC2	chr8:50824103-50824515	MCF-7	breast:	n/a	n/a
31	HDAC2	chr8:50824066-50824508	MCF-7	breast:	n/a	n/a
32	RAD21	chr8:50824134-50824429	SK-N-SH_RA	brain:	n/a	n/a
33	REST	chr8:50822077-50824754	H1-neurons	neurons:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
34	CHD2	chr8:50824143-50824446	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr8:50824080-50824413	A549	lung:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
36	SIN3AK20	chr8:50824017-50824420	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr8:50823713-50824772	MCF-7	breast:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
38	REST	chr8:50823842-50824624	H1-hESC	embryonic stem cell:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
39	ZNF143	chr8:50824094-50824428	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:50822917-50824527	H1-neurons	neurons:	n/a	n/a
41	REST	chr8:50823977-50824551	HL-60	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
42	MAX	chr8:50824153-50824434	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr8:50822981-50824418	H1-hESC	embryonic stem cell:	n/a	n/a
44	TEAD4	chr8:50824041-50824608	A549	lung:	n/a	n/a
45	REST	chr8:50823539-50824779	HL-60	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
46	REST	chr8:50823832-50824513	HepG2	liver:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
47	REST	chr8:50824129-50824427	GM12878	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
48	CTBP2	chr8:50823956-50824543	H1-hESC	embryonic stem cell:	n/a	n/a
49	REST	chr8:50824052-50824417	SK-N-SH	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
50	RAD21	chr8:50824141-50824547	MCF-7	breast:	n/a	n/a

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

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10113044	1.00[AMR][1000 genomes]
rs16913838	1.00[AMR][1000 genomes]
rs16913859	1.00[AMR][1000 genomes]
rs16913881	1.00[AMR][1000 genomes]
rs16913981	1.00[AMR][1000 genomes]
rs16914042	1.00[AMR][1000 genomes]
rs16914070	1.00[AMR][1000 genomes]
rs2306742	1.00[AMR][1000 genomes]
rs28529396	1.00[AMR][1000 genomes]
rs57307349	1.00[AMR][1000 genomes]
rs57882761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58254228	1.00[AMR][1000 genomes]
rs58520473	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60153766	1.00[AMR][1000 genomes]
rs60356093	1.00[AMR][1000 genomes]
rs61374770	1.00[AMR][1000 genomes]
rs73569305	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569306	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569315	1.00[AMR][1000 genomes]
rs73569317	1.00[AMR][1000 genomes]
rs73569327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569338	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569339	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569343	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584719	1.00[AMR][1000 genomes]
rs73584722	1.00[AMR][1000 genomes]
rs73584723	1.00[AMR][1000 genomes]
rs73584728	1.00[AMR][1000 genomes]
rs73584754	1.00[AMR][1000 genomes]
rs73584758	1.00[AMR][1000 genomes]
rs73584759	1.00[AMR][1000 genomes]
rs73584763	1.00[AMR][1000 genomes]
rs73584765	1.00[AMR][1000 genomes]
rs73584770	1.00[AMR][1000 genomes]
rs73584771	1.00[AMR][1000 genomes]
rs73584773	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73676082	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677829	0.89[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	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:46 , 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	chr8:50821600-50824400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:50821600-50824600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:50821600-50824600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:50821600-50829000	Active TSS	Brain Germinal Matrix	brain
9	chr8:50821800-50824200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:50821800-50824800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr8:50821800-50825200	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr8:50821800-50827800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:50821800-50828600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:50822000-50824400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:50822000-50824400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:50822000-50824600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr8:50822000-50824600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:50822000-50828400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:50822200-50824400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:50822200-50824600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:50822600-50824200	Bivalent/Poised TSS	Fetal Kidney	kidney
22	chr8:50822600-50824600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr8:50822800-50824400	Enhancers	Ovary	ovary
24	chr8:50823400-50824200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:50823400-50824400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr8:50823400-50826800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr8:50823400-50828400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:50823600-50824200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:50823600-50824200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:50823600-50824200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:50823600-50824400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:50823600-50824600	Enhancers	Liver	Liver
33	chr8:50823600-50825600	Active TSS	Brain Angular Gyrus	brain
34	chr8:50823800-50824200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr8:50823800-50824400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr8:50823800-50824600	Bivalent Enhancer	Fetal Lung	lung
37	chr8:50824000-50824200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:50824000-50824200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:50824000-50824200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr8:50824000-50824200	Active TSS	NH-A	brain
41	chr8:50824000-50824400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr8:50824000-50824600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:50824000-50824600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:50824000-50824600	Bivalent Enhancer	HMEC	breast
45	chr8:50824000-50826000	Active TSS	Brain Cingulate Gyrus	brain
46	chr8:50824000-50828600	Active TSS	Brain Anterior Caudate	brain

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