Variant report

Variant	rs6989809
Chromosome Location	chr8:58055061-58055062
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr8:58054968-58055360	K562	blood:	n/a	chr8:58055173-58055186 chr8:58055174-58055184 chr8:58055171-58055186 chr8:58055171-58055186 chr8:58055172-58055186
2	E2F6	chr8:58055029-58055243	K562	blood:	n/a	chr8:58055175-58055184

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58055024-58055074	NT2-D1	testis:	n/a
2	chr8:58055024-58055074	Hepatocyte	liver:	n/a
3	chr8:58055024-58055074	BJ	skin:	n/a
4	chr8:58055024-58055074	H1-hESC	embryonic stem cell:	embryo
5	chr8:58055024-58055074	K562	blood:	n/a
6	chr8:58055024-58055074	HIPEpiC	eye:	n/a
7	chr8:58055024-58055074	SKMC	muscle:	n/a
8	chr8:58055024-58055074	GM12878	blood:	n/a
9	chr8:58055024-58055074	HRPEpiC	eye:	n/a
10	chr8:58055024-58055074	SK-N-MC	brain:	n/a
11	chr8:58055024-58055074	LNCaP	prostate:	n/a
12	chr8:58055024-58055074	T-47D	breast:	n/a
13	chr8:58055024-58055074	HAEpiC	amniotic membrane:	n/a
14	chr8:58055024-58055074	PANC-1	pancreas:	n/a
15	chr8:58055024-58055074	MCF10A-Er-Src	breast:	n/a
16	chr8:58055024-58055074	Caco-2	colon:	n/a
17	chr8:58055024-58055074	NHBE	bronchial:	n/a
18	chr8:58055024-58055074	MCF-7	breast:	n/a
19	chr8:58055024-58055074	HEK293	kidney:	embryo
20	chr8:58055024-58055074	HMEC	breast:	n/a
21	chr8:58055024-58055074	HL-60	blood:	n/a
22	chr8:58055024-58055074	AoSMC	blood vessel:	n/a
23	chr8:58055024-58055074	AG09309	skin:	n/a
24	chr8:58055024-58055074	HUVEC	blood vessel:	n/a
25	chr8:58055024-58055074	SAEC	small airway:	n/a
26	chr8:58055024-58055074	HepG2	liver:	n/a
27	chr8:58055024-58055074	HNPCEpiC	eye:	n/a
28	chr8:58055024-58055074	ECC-1	luminal epithelium:	n/a
29	chr8:58055024-58055074	GM12892	blood:	n/a
30	chr8:58055024-58055074	A549	lung:	n/a
31	chr8:58055024-58055074	AG04449	skin:	fetal
32	chr8:58055024-58055074	AG04450	lung:	fetal
33	chr8:58055024-58055074	BE2_C	brain:	n/a
34	chr8:58055024-58055074	HCF	heart:	n/a
35	chr8:58055024-58055074	IMR90	lung:	fetal
36	chr8:58055024-58055074	ProgFib	skin:	n/a
37	chr8:58055024-58055074	SK-N-SH_RA	brain:	n/a
38	chr8:58055024-58055074	HCT-116	colon:	n/a
39	chr8:58055024-58055074	HRCEpiC	kidney:	n/a
40	chr8:58055024-58055074	U87	brain:	n/a
41	chr8:58055024-58055074	HPAEpiC	pulmonary alveolar:	n/a
42	chr8:58055024-58055074	Hela-S3	cervix:	n/a
43	chr8:58055024-58055074	PrEC	prostate:	n/a
44	chr8:58055024-58055074	ovcar-3	ovarian:	n/a
45	chr8:58055024-58055074	HRE	kidney:	n/a
46	chr8:58055024-58055074	GM12891	blood:	n/a
47	chr8:58055024-58055074	AG09319	gingival:	n/a
48	chr8:58055024-58055074	NH-A	brain:	n/a
49	chr8:58055024-58055074	HCPEpiC	choroid plexus:	n/a
50	chr8:58055024-58055074	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000253301	TF binding region
ENSG00000253301	CpG island

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10086791	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs10092884	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs10092993	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs10093755	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs10808915	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs10958522	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs10958523	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs10958524	0.83[EUR][1000 genomes]
rs11774303	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs11774585	0.85[JPT][hapmap]
rs11774645	0.86[JPT][hapmap]
rs11774697	0.86[JPT][hapmap]
rs11775568	0.85[JPT][hapmap]
rs11776527	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11781690	0.84[JPT][hapmap]
rs11782197	0.83[EUR][1000 genomes]
rs11782217	0.83[EUR][1000 genomes]
rs11783963	0.85[JPT][hapmap]
rs11783965	0.85[JPT][hapmap]
rs11785258	0.86[JPT][hapmap]
rs11785260	0.86[JPT][hapmap]
rs11786043	0.86[JPT][hapmap]
rs11786074	0.86[JPT][hapmap]
rs11786328	0.83[JPT][hapmap]
rs11786843	0.83[JPT][hapmap]
rs11787247	0.86[JPT][hapmap]
rs11990600	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11992943	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs12682137	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs16921693	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16921694	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16921695	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16921701	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16921751	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16921754	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs16921777	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs16921808	0.84[JPT][hapmap]
rs17192845	0.86[JPT][hapmap]
rs17194487	0.86[JPT][hapmap]
rs17215412	0.92[CHB][hapmap]
rs17802082	0.85[JPT][hapmap]
rs1874375	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2017474	0.81[ASN][1000 genomes]
rs2028533	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28408163	0.82[ASN][1000 genomes]
rs28408204	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28449911	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28548459	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28578130	0.85[ASN][1000 genomes]
rs28690714	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2873637	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34120669	0.83[EUR][1000 genomes]
rs4738578	0.95[CEU][hapmap]
rs55868332	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56325221	0.82[ASN][1000 genomes]
rs56406973	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57445614	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59079777	0.84[ASN][1000 genomes]
rs59139449	0.84[ASN][1000 genomes]
rs59545981	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60398072	0.84[ASN][1000 genomes]
rs6980581	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6980596	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6984434	0.82[ASN][1000 genomes]
rs6997857	0.90[ASN][1000 genomes]
rs6999376	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7001233	0.85[ASN][1000 genomes]
rs7007444	0.83[ASN][1000 genomes]
rs72649134	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649136	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72649137	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72649138	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72649139	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7460059	0.86[JPT][hapmap]
rs7463453	0.86[JPT][hapmap]
rs7813252	0.86[JPT][hapmap]
rs7814991	0.81[ASN][1000 genomes]
rs7816733	0.85[JPT][hapmap]
rs7817188	0.84[JPT][hapmap]
rs7821125	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7822631	0.85[JPT][hapmap]
rs7823911	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7837180	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7837765	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7839948	0.84[JPT][hapmap]
rs870518	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs882429	0.86[JPT][hapmap]
rs903702	0.85[JPT][hapmap]
rs903705	0.85[JPT][hapmap]
rs903716	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv890933	chr8:58005923-58084006	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv890934	chr8:58037522-58112053	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv890935	chr8:58038406-58114743	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv12840	chr8:58046936-58196713	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3693378	chr8:58051501-58128557	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3432915	chr8:58055026-58271178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58054800-58055200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
2	chr8:58054800-58055200	Bivalent Enhancer	Fetal Stomach	stomach
3	chr8:58054800-58055400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr8:58054800-58055600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:58054800-58055600	Active TSS	Brain Anterior Caudate	brain
6	chr8:58054800-58055600	Bivalent Enhancer	Placenta	Placenta
7	chr8:58054800-58055800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr8:58054800-58055800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
9	chr8:58054800-58056000	Enhancers	Lung	lung
10	chr8:58054800-58056200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:58054800-58056400	Active TSS	Brain Germinal Matrix	brain
12	chr8:58054800-58057000	Active TSS	Fetal Brain Female	brain
13	chr8:58055000-58055200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:58055000-58055200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr8:58055000-58055200	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
19	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
20	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr8:58055000-58055400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:58055000-58055400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:58055000-58055400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:58055000-58055400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr8:58055000-58055400	Flanking Active TSS	Pancreas	Pancrea
26	chr8:58055000-58055400	Enhancers	Spleen	Spleen
27	chr8:58055000-58055400	Bivalent Enhancer	HMEC	breast
28	chr8:58055000-58055600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr8:58055000-58055600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr8:58055000-58055600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr8:58055000-58055600	Bivalent Enhancer	Left Ventricle	heart
32	chr8:58055000-58055600	Active TSS	Right Atrium	heart
33	chr8:58055000-58055600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr8:58055000-58055600	Bivalent Enhancer	Thymus	Thymus
35	chr8:58055000-58055800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:58055000-58056000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:58055000-58056000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr8:58055000-58056000	Bivalent Enhancer	Ovary	ovary

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