Variant report

Variant	rs73584771
Chromosome Location	chr8:50824362-50824363
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	SMC3	chr8:50824270-50824392	GM12878	blood:	n/a	n/a
4	REST	chr8:50823829-50824541	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
5	POLR2A	chr8:50824148-50824464	MCF-7	breast:	n/a	n/a
6	RAD21	chr8:50823988-50824426	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:50824187-50824431	MCF-7	breast:	n/a	n/a
8	MYC	chr8:50824162-50824492	MCF-7	breast:	n/a	n/a
9	REST	chr8:50824092-50824433	HepG2	liver:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
10	REST	chr8:50824121-50824485	U87	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
11	REST	chr8:50824134-50824480	SK-N-SH	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
12	YY1	chr8:50824138-50824380	HepG2	liver:	n/a	n/a
13	REST	chr8:50823774-50824665	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
14	FOXP2	chr8:50824146-50824440	PFSK-1	brain:	n/a	n/a
15	REST	chr8:50823982-50824581	ECC-1	luminal epithelium:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
16	MYC	chr8:50824213-50824385	MCF-7	breast:	n/a	n/a
17	REST	chr8:50823868-50824734	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
18	CTCF	chr8:50824279-50824375	Gliobla	brain:	n/a	n/a
19	REST	chr8:50823806-50824635	U87	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
20	POLR2A	chr8:50824190-50824383	MCF-7	breast:	n/a	n/a
21	TBP	chr8:50824129-50824448	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr8:50824036-50824488	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr8:50824150-50824397	SK-N-SH	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
24	MAZ	chr8:50824294-50824367	HepG2	liver:	n/a	n/a
25	REST	chr8:50823826-50824619	HepG2	liver:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
26	MYC	chr8:50824191-50824418	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:50824217-50824391	MCF-7	breast:	n/a	n/a
28	MAX	chr8:50824077-50824464	MCF-7	breast:	n/a	n/a
29	REST	chr8:50824117-50824446	GM12878	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
30	CTCF	chr8:50824228-50824387	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:50824209-50824412	MCF-7	breast:	n/a	n/a
32	REST	chr8:50824101-50824390	K562	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
33	REST	chr8:50823682-50824756	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
34	RAD21	chr8:50824033-50824516	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr8:50822051-50824817	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
36	REST	chr8:50824034-50824452	K562	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
37	RCOR1	chr8:50824272-50824410	GM12878	blood:	n/a	n/a
38	REST	chr8:50824088-50824491	HepG2	liver:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
39	RCOR1	chr8:50824162-50824444	HepG2	liver:	n/a	n/a
40	FOXP2	chr8:50824057-50824430	SK-N-MC	brain:	n/a	n/a
41	CTCF	chr8:50824280-50824430	HRE	kidney:	n/a	n/a
42	REST	chr8:50824075-50824482	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
43	SIN3AK20	chr8:50824136-50824436	H1-hESC	embryonic stem cell:	n/a	n/a
44	HDAC2	chr8:50824103-50824515	MCF-7	breast:	n/a	n/a
45	HDAC2	chr8:50824066-50824508	MCF-7	breast:	n/a	n/a
46	RAD21	chr8:50824134-50824429	SK-N-SH_RA	brain:	n/a	n/a
47	REST	chr8:50822077-50824754	H1-neurons	neurons:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
48	CHD2	chr8:50824143-50824446	H1-hESC	embryonic stem cell:	n/a	n/a
49	REST	chr8:50824080-50824413	A549	lung:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
50	SIN3AK20	chr8:50824017-50824420	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:50824358-50824408	HCPEpiC	choroid plexus:	n/a
2	chr8:50824358-50824408	GM19239	blood:	n/a
3	chr8:50824358-50824408	MCF-7	breast:	n/a
4	chr8:50824358-50824408	BE2_C	brain:	n/a
5	chr8:50824358-50824408	NT2-D1	testis:	n/a
6	chr8:50824358-50824408	NB4	blood:	n/a
7	chr8:50824358-50824408	K562	blood:	n/a
8	chr8:50824358-50824408	RPTEC	kidney:	n/a
9	chr8:50824358-50824408	HEK293	kidney:	embryo
10	chr8:50824358-50824408	SK-N-SH_RA	brain:	n/a
11	chr8:50824358-50824408	HNPCEpiC	eye:	n/a
12	chr8:50824358-50824408	HMEC	breast:	n/a
13	chr8:50824358-50824408	T-47D	breast:	n/a
14	chr8:50824358-50824408	GM12892	blood:	n/a
15	chr8:50824358-50824408	LNCaP	prostate:	n/a
16	chr8:50824358-50824408	HIPEpiC	eye:	n/a
17	chr8:50824358-50824408	ovcar-3	ovarian:	n/a
18	chr8:50824358-50824408	HAEpiC	amniotic membrane:	n/a
19	chr8:50824358-50824408	Jurkat	blood:	n/a
20	chr8:50824358-50824408	AG09309	skin:	n/a
21	chr8:50824358-50824408	A549	lung:	n/a
22	chr8:50824358-50824408	NH-A	brain:	n/a
23	chr8:50824358-50824408	AG04449	skin:	fetal
24	chr8:50824358-50824408	SKMC	muscle:	n/a
25	chr8:50824358-50824408	NHBE	bronchial:	n/a
26	chr8:50824358-50824408	BJ	skin:	n/a
27	chr8:50824358-50824408	HRPEpiC	eye:	n/a
28	chr8:50824358-50824408	SK-N-SH	brain:	n/a
29	chr8:50824358-50824408	Hela-S3	cervix:	n/a
30	chr8:50824358-50824408	HL-60	blood:	n/a
31	chr8:50824358-50824408	H1-hESC	embryonic stem cell:	embryo
32	chr8:50824358-50824408	Hepatocyte	liver:	n/a
33	chr8:50824358-50824408	HCF	heart:	n/a
34	chr8:50824358-50824408	GM12891	blood:	n/a
35	chr8:50824358-50824408	AG09319	gingival:	n/a
36	chr8:50824358-50824408	U87	brain:	n/a
37	chr8:50824358-50824408	HUVEC	blood vessel:	n/a
38	chr8:50824358-50824408	GM12878	blood:	n/a
39	chr8:50824358-50824408	CMK	blood:	n/a
40	chr8:50824358-50824408	AoSMC	blood vessel:	n/a
41	chr8:50824358-50824408	HCT-116	colon:	n/a
42	chr8:50824358-50824408	AG10803	skin:	n/a
43	chr8:50824358-50824408	HCM	heart:	n/a
44	chr8:50824358-50824408	HepG2	liver:	n/a
45	chr8:50824358-50824408	Caco-2	colon:	n/a
46	chr8:50824358-50824408	MCF10A-Er-Src	breast:	n/a
47	chr8:50824358-50824408	HPAEpiC	pulmonary alveolar:	n/a
48	chr8:50824358-50824408	HEEpiC	esophagus:	n/a
49	chr8:50824358-50824408	HRCEpiC	kidney:	n/a
50	chr8:50824358-50824408	SK-N-MC	brain:	n/a

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

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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16913859	1.00[AMR][1000 genomes]
rs16913881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16913981	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	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[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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60356093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61374770	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73569317	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584728	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]
rs73584759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73584763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73584765	0.97[AFR][1000 genomes];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]
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:42 , 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	chr8:50821800-50824800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr8:50821800-50825200	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr8:50821800-50827800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr8:50821800-50828600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:50822000-50824400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr8:50822000-50824400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:50822000-50824600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr8:50822000-50824600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:50822000-50828400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:50822200-50824400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:50822200-50824600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:50822600-50824600	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr8:50822800-50824400	Enhancers	Ovary	ovary
22	chr8:50823400-50824400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr8:50823400-50826800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr8:50823400-50828400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:50823600-50824400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:50823600-50824600	Enhancers	Liver	Liver
27	chr8:50823600-50825600	Active TSS	Brain Angular Gyrus	brain
28	chr8:50823800-50824400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr8:50823800-50824600	Bivalent Enhancer	Fetal Lung	lung
30	chr8:50824000-50824400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr8:50824000-50824600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:50824000-50824600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:50824000-50824600	Bivalent Enhancer	HMEC	breast
34	chr8:50824000-50826000	Active TSS	Brain Cingulate Gyrus	brain
35	chr8:50824000-50828600	Active TSS	Brain Anterior Caudate	brain
36	chr8:50824200-50824400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:50824200-50824400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
38	chr8:50824200-50824400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:50824200-50824400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr8:50824200-50824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:50824200-50824600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:50824200-50824600	Bivalent Enhancer	Fetal Intestine Small	intestine

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