Variant report

Variant	rs62489494
Chromosome Location	chr8:9763909-9763910
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	SIN3A	chr8:9759698-9764536	H1-hESC	embryonic stem cell:	n/a	chr8:9764123-9764136 chr8:9761549-9761560 chr8:9761633-9761646 chr8:9762434-9762445 chr8:9760165-9760174
2	BACH1	chr8:9763576-9764132	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr8:9763760-9763910	WERI-Rb-1	eye:	n/a	chr8:9763891-9763904
4	MAX	chr8:9763575-9764651	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:9759634-9765032	H1-neurons	neurons:	n/a	n/a
6	GATA2	chr8:9763543-9763920	SH-SY5Y	brain:	n/a	n/a
7	MAX	chr8:9763478-9764634	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr8:9760486-9764444	H1-neurons	neurons:	n/a	chr8:9763658-9763671 chr8:9760877-9760897 chr8:9761543-9761556 chr8:9764262-9764271 chr8:9761633-9761646
9	ELF1	chr8:9763818-9764154	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:9758404-9764972	H1-neurons	neurons:	n/a	n/a
11	E2F6	chr8:9763499-9764574	H1-hESC	embryonic stem cell:	n/a	chr8:9764184-9764194 chr8:9763738-9763745 chr8:9763843-9763852 chr8:9763738-9763745 chr8:9763822-9763832 chr8:9764512-9764519 chr8:9764318-9764327 chr8:9763738-9763745
12	ZNF263	chr8:9763825-9764328	HEK293-T-REx	kidney:	n/a	n/a
13	CHD2	chr8:9763892-9764230	H1-hESC	embryonic stem cell:	n/a	chr8:9764098-9764108
14	TAF1	chr8:9760440-9764605	H1-neurons	neurons:	n/a	n/a
15	MXI1	chr8:9759530-9764640	SK-N-SH	brain:	n/a	n/a
16	REST	chr8:9759431-9765302	H1-neurons	neurons:	n/a	chr8:9763658-9763671 chr8:9760877-9760897 chr8:9761543-9761556 chr8:9764262-9764271 chr8:9761633-9761646
17	E2F6	chr8:9763087-9764656	H1-hESC	embryonic stem cell:	n/a	chr8:9764184-9764194 chr8:9763183-9763193 chr8:9763738-9763745 chr8:9763843-9763852 chr8:9763738-9763745 chr8:9763822-9763832 chr8:9764512-9764519 chr8:9764318-9764327 chr8:9763738-9763745
18	CTBP2	chr8:9762972-9764578	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr8:9760457-9764946	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:9763877-9763927	RPTEC	kidney:	n/a
2	chr8:9763877-9763927	NH-A	brain:	n/a
3	chr8:9763877-9763927	Hela-S3	cervix:	n/a
4	chr8:9763877-9763927	SK-N-MC	brain:	n/a
5	chr8:9763877-9763927	HRE	kidney:	n/a
6	chr8:9763877-9763927	SK-N-SH	brain:	n/a
7	chr8:9763877-9763927	AG04450	lung:	fetal
8	chr8:9763877-9763927	HCT-116	colon:	n/a
9	chr8:9763877-9763927	T-47D	breast:	n/a
10	chr8:9763877-9763927	HIPEpiC	eye:	n/a
11	chr8:9763877-9763927	GM06990	blood:	n/a
12	chr8:9763877-9763927	HEEpiC	esophagus:	n/a
13	chr8:9763877-9763927	Hepatocyte	liver:	n/a
14	chr8:9763877-9763927	HepG2	liver:	n/a
15	chr8:9763877-9763927	ovcar-3	ovarian:	n/a
16	chr8:9763877-9763927	ProgFib	skin:	n/a
17	chr8:9763877-9763927	SAEC	small airway:	n/a
18	chr8:9763877-9763927	SK-N-SH_RA	brain:	n/a
19	chr8:9763877-9763927	NB4	blood:	n/a
20	chr8:9763877-9763927	HCM	heart:	n/a
21	chr8:9763877-9763927	PrEC	prostate:	n/a
22	chr8:9763877-9763927	AG09319	gingival:	n/a
23	chr8:9763877-9763927	LNCaP	prostate:	n/a
24	chr8:9763877-9763927	GM19239	blood:	n/a
25	chr8:9763877-9763927	PFSK-1	brain:	n/a
26	chr8:9763877-9763927	AG10803	skin:	n/a
27	chr8:9763877-9763927	Caco-2	colon:	n/a
28	chr8:9763877-9763927	HRCEpiC	kidney:	n/a
29	chr8:9763877-9763927	H1-hESC	embryonic stem cell:	embryo
30	chr8:9763877-9763927	A549	lung:	n/a
31	chr8:9763877-9763927	HCPEpiC	choroid plexus:	n/a
32	chr8:9763877-9763927	U87	brain:	n/a
33	chr8:9763877-9763927	GM12891	blood:	n/a
34	chr8:9763877-9763927	MCF10A-Er-Src	breast:	n/a
35	chr8:9763877-9763927	NHDF-neo	bronchial:	n/a
36	chr8:9763877-9763927	HRPEpiC	eye:	n/a
37	chr8:9763877-9763927	IMR90	lung:	fetal
38	chr8:9763877-9763927	BJ	skin:	n/a
39	chr8:9763877-9763927	HAEpiC	amniotic membrane:	n/a
40	chr8:9763877-9763927	Jurkat	blood:	n/a
41	chr8:9763877-9763927	SKMC	muscle:	n/a
42	chr8:9763877-9763927	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:9763877-9763927	AG09309	skin:	n/a
44	chr8:9763877-9763927	CMK	blood:	n/a
45	chr8:9763877-9763927	MCF-7	breast:	n/a
46	chr8:9763877-9763927	NT2-D1	testis:	n/a
47	chr8:9763877-9763927	HNPCEpiC	eye:	n/a
48	chr8:9763877-9763927	HUVEC	blood vessel:	n/a
49	chr8:9763877-9763927	HL-60	blood:	n/a
50	chr8:9763877-9763927	K562	blood:	n/a

Variant related genes	Relation type
LINC00599	TF binding region
LINC00599	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12541159	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs531564	0.91[AMR][1000 genomes]
rs62489493	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9918917	0.85[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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9759600-9764000	Active TSS	Fetal Brain Male	brain
2	chr8:9760200-9765000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:9760200-9765400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr8:9760200-9765800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:9760400-9764600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:9760400-9764600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
7	chr8:9760400-9764800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:9760600-9764000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr8:9760600-9764200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:9760600-9764600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:9760600-9764600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:9760600-9764800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:9760600-9764800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:9760600-9765000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr8:9760800-9764200	Bivalent Enhancer	Fetal Lung	lung
16	chr8:9761000-9765000	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr8:9761800-9766000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:9762000-9764000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:9762200-9764000	Bivalent Enhancer	Spleen	Spleen
20	chr8:9762200-9764200	Bivalent Enhancer	Esophagus	oesophagus
21	chr8:9762200-9764400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr8:9762200-9764400	Bivalent Enhancer	Liver	Liver
23	chr8:9762200-9764800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:9762400-9765000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:9762600-9764000	Enhancers	Gastric	stomach
26	chr8:9762600-9764200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
27	chr8:9762600-9764800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:9762600-9764800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr8:9762800-9764600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr8:9762800-9764600	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr8:9762800-9764600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr8:9762800-9766200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr8:9763000-9764200	Bivalent/Poised TSS	HSMM	muscle
34	chr8:9763000-9764400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:9763000-9764600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:9763000-9764800	Bivalent Enhancer	Placenta	Placenta
37	chr8:9763200-9764000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:9763200-9764600	Active TSS	Brain Angular Gyrus	brain
39	chr8:9763200-9764600	Active TSS	Brain Anterior Caudate	brain
40	chr8:9763200-9764600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
41	chr8:9763200-9764600	Active TSS	Brain Substantia Nigra	brain
42	chr8:9763200-9764600	Bivalent/Poised TSS	NHEK	skin
43	chr8:9763400-9764000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:9763400-9764000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr8:9763400-9764200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
46	chr8:9763400-9764400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:9763400-9765000	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr8:9763600-9764000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
49	chr8:9763600-9764000	Flanking Active TSS	Pancreas	Pancrea
50	chr8:9763600-9764000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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