Variant report

Variant	rs3812424
Chromosome Location	chr8:50822586-50822587
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	REST	chr8:50822049-50824821	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
2	REST	chr8:50822140-50822837	PFSK-1	brain:	n/a	chr8:50822601-50822614
3	REST	chr8:50822423-50822755	H1-hESC	embryonic stem cell:	n/a	chr8:50822601-50822614
4	FOXA1	chr8:50822271-50822708	HepG2	liver:	n/a	n/a
5	E2F6	chr8:50821848-50822887	H1-hESC	embryonic stem cell:	n/a	chr8:50821961-50821978
6	FOXP2	chr8:50822520-50822755	SK-N-MC	brain:	n/a	n/a
7	REST	chr8:50822555-50822788	PFSK-1	brain:	n/a	chr8:50822601-50822614
8	RAD21	chr8:50822003-50822610	SK-N-SH	brain:	n/a	chr8:50822377-50822391
9	HNF4G	chr8:50822250-50822596	HepG2	liver:	n/a	chr8:50822428-50822443 chr8:50822430-50822445 chr8:50822431-50822444 chr8:50822430-50822445 chr8:50822431-50822443 chr8:50822436-50822444 chr8:50822430-50822445 chr8:50822430-50822445 chr8:50822431-50822443 chr8:50822431-50822443
10	RAD21	chr8:50821893-50822891	H1-hESC	embryonic stem cell:	n/a	chr8:50822377-50822391 chr8:50822785-50822799
11	REST	chr8:50822201-50822634	HepG2	liver:	n/a	chr8:50822601-50822614
12	MAX	chr8:50822132-50823671	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr8:50822517-50822713	H1-hESC	embryonic stem cell:	n/a	n/a
14	RFX5	chr8:50822483-50822609	HepG2	liver:	n/a	n/a
15	CTCF	chr8:50821983-50822676	SK-N-SH	brain:	n/a	chr8:50822592-50822605
16	REST	chr8:50822051-50824817	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
17	FOXA1	chr8:50822218-50822609	HepG2	liver:	n/a	n/a
18	REST	chr8:50822077-50824754	H1-neurons	neurons:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
19	HNF4A	chr8:50822214-50822627	HepG2	liver:	n/a	chr8:50822430-50822445 chr8:50822431-50822444 chr8:50822430-50822445 chr8:50822431-50822443 chr8:50822436-50822444 chr8:50822430-50822445 chr8:50822430-50822445 chr8:50822429-50822444 chr8:50822431-50822443 chr8:50822431-50822443
20	RAD21	chr8:50822047-50822919	H1-hESC	embryonic stem cell:	n/a	chr8:50822377-50822391 chr8:50822785-50822799
21	BACH1	chr8:50822115-50822758	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:50822110-50823618	SK-N-MC	brain:	n/a	n/a
23	CHD1	chr8:50822371-50822769	H1-hESC	embryonic stem cell:	n/a	chr8:50822568-50822578
24	RAD21	chr8:50822067-50822815	H1-hESC	embryonic stem cell:	n/a	chr8:50822377-50822391 chr8:50822785-50822799
25	POLR2A	chr8:50822550-50822663	Gliobla	brain:	n/a	n/a
26	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
27	REST	chr8:50822518-50822764	H1-hESC	embryonic stem cell:	n/a	chr8:50822601-50822614
28	FOXA1	chr8:50822208-50822752	HepG2	liver:	n/a	n/a
29	FOXA2	chr8:50822290-50822595	HepG2	liver:	n/a	n/a
30	MAFK	chr8:50822320-50822625	HepG2	liver:	n/a	n/a
31	RFX5	chr8:50822296-50822623	H1-hESC	embryonic stem cell:	n/a	n/a
32	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
33	POLR2A	chr8:50822217-50822815	H1-neurons	neurons:	n/a	n/a
34	CTCF	chr8:50822560-50822710	HPF	lung:	n/a	chr8:50822592-50822605
35	CTCF	chr8:50822500-50822650	WERI-Rb-1	eye:	n/a	chr8:50822592-50822605
36	HDAC2	chr8:50822094-50822695	H1-hESC	embryonic stem cell:	n/a	chr8:50822466-50822475
37	SIN3A	chr8:50822049-50823683	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr8:50822131-50822797	U87	brain:	n/a	chr8:50822601-50822614

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:50822565-50822615	T-47D	breast:	n/a
2	chr8:50822565-50822615	HMEC	breast:	n/a
3	chr8:50822565-50822615	NHDF-neo	bronchial:	n/a
4	chr8:50822565-50822615	HNPCEpiC	eye:	n/a
5	chr8:50822565-50822615	NB4	blood:	n/a
6	chr8:50822565-50822615	LNCaP	prostate:	n/a
7	chr8:50822565-50822615	Caco-2	colon:	n/a
8	chr8:50822565-50822615	HL-60	blood:	n/a
9	chr8:50822565-50822615	GM19239	blood:	n/a
10	chr8:50822565-50822615	HAEpiC	amniotic membrane:	n/a
11	chr8:50822565-50822615	HRPEpiC	eye:	n/a
12	chr8:50822565-50822615	MCF10A-Er-Src	breast:	n/a
13	chr8:50822565-50822615	HCF	heart:	n/a
14	chr8:50822565-50822615	AoSMC	blood vessel:	n/a
15	chr8:50822565-50822615	HRCEpiC	kidney:	n/a
16	chr8:50822565-50822615	K562	blood:	n/a
17	chr8:50822565-50822615	SK-N-SH_RA	brain:	n/a
18	chr8:50822565-50822615	AG09319	gingival:	n/a
19	chr8:50822565-50822615	U87	brain:	n/a
20	chr8:50822565-50822615	H1-hESC	embryonic stem cell:	embryo
21	chr8:50822565-50822615	AG09309	skin:	n/a
22	chr8:50822565-50822615	HRE	kidney:	n/a
23	chr8:50822565-50822615	ovcar-3	ovarian:	n/a
24	chr8:50822565-50822615	A549	lung:	n/a
25	chr8:50822565-50822615	HIPEpiC	eye:	n/a
26	chr8:50822565-50822615	Hepatocyte	liver:	n/a
27	chr8:50822565-50822615	NH-A	brain:	n/a
28	chr8:50822565-50822615	SKMC	muscle:	n/a
29	chr8:50822565-50822615	PrEC	prostate:	n/a
30	chr8:50822565-50822615	MCF-7	breast:	n/a
31	chr8:50822565-50822615	HEEpiC	esophagus:	n/a
32	chr8:50822565-50822615	CMK	blood:	n/a
33	chr8:50822565-50822615	SK-N-SH	brain:	n/a
34	chr8:50822565-50822615	ProgFib	skin:	n/a
35	chr8:50822565-50822615	PANC-1	pancreas:	n/a
36	chr8:50822565-50822615	Hela-S3	cervix:	n/a
37	chr8:50822565-50822615	SK-N-MC	brain:	n/a
38	chr8:50822565-50822615	GM12878	blood:	n/a
39	chr8:50822565-50822615	AG04450	lung:	fetal
40	chr8:50822565-50822615	AG10803	skin:	n/a
41	chr8:50822565-50822615	IMR90	lung:	fetal
42	chr8:50822565-50822615	HCPEpiC	choroid plexus:	n/a
43	chr8:50822565-50822615	Jurkat	blood:	n/a
44	chr8:50822565-50822615	HCM	heart:	n/a
45	chr8:50822565-50822615	NT2-D1	testis:	n/a
46	chr8:50822565-50822615	HPAEpiC	pulmonary alveolar:	n/a
47	chr8:50822565-50822615	BJ	skin:	n/a
48	chr8:50822565-50822615	ECC-1	luminal epithelium:	n/a
49	chr8:50822565-50822615	AG04449	skin:	fetal
50	chr8:50822565-50822615	GM12892	blood:	n/a

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10112818	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10216383	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543434	0.87[EUR][1000 genomes]
rs12549981	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679386	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13252824	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13264385	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13271446	0.87[EUR][1000 genomes]
rs1486258	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1552380	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17676077	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2385554	0.82[ASN][1000 genomes]
rs2449961	0.85[ASN][1000 genomes]
rs318851	0.82[ASN][1000 genomes]
rs318853	0.85[ASN][1000 genomes]
rs36160411	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs379601	0.81[ASN][1000 genomes]
rs3812426	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs404309	0.81[ASN][1000 genomes]
rs412929	0.80[ASN][1000 genomes]
rs451034	0.81[ASN][1000 genomes]
rs4873120	0.80[ASN][1000 genomes]
rs62503966	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991925	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs923060	0.81[ASN][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:72 , 50 per page) page: 1 2

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	chr8:50821600-50822600	Enhancers	Liver	Liver
6	chr8:50821600-50823000	Active TSS	Brain Angular Gyrus	brain
7	chr8:50821600-50824400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:50821600-50824600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:50821600-50824600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:50821600-50829000	Active TSS	Brain Germinal Matrix	brain
11	chr8:50821800-50822600	Bivalent Enhancer	Fetal Lung	lung
12	chr8:50821800-50823000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:50821800-50823200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:50821800-50823200	Active TSS	Brain Anterior Caudate	brain
15	chr8:50821800-50823400	Active TSS	NHDF-Ad	bronchial
16	chr8:50821800-50824200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:50821800-50824800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr8:50821800-50825200	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr8:50821800-50827800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:50821800-50828600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:50822000-50822800	Active TSS	HepG2	liver
22	chr8:50822000-50823400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr8:50822000-50823600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:50822000-50824000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr8:50822000-50824000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:50822000-50824400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr8:50822000-50824400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:50822000-50824600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:50822000-50824600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:50822000-50828400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:50822200-50822600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:50822200-50822600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:50822200-50822600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr8:50822200-50822600	Bivalent/Poised TSS	Thymus	Thymus
35	chr8:50822200-50822800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:50822200-50822800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:50822200-50822800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:50822200-50822800	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr8:50822200-50822800	Flanking Bivalent TSS/Enh	HMEC	breast
40	chr8:50822200-50823000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:50822200-50823000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:50822200-50823000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
43	chr8:50822200-50823000	Active TSS	NH-A	brain
44	chr8:50822200-50823200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
45	chr8:50822200-50823600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:50822200-50824400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:50822200-50824600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:50822400-50822600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:50822400-50822600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:50822400-50822600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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