Variant report

Variant	rs544725704
Chromosome Location	chr8:65281443-65281444
allele	A/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	POLR2A	chr8:65281288-65281726	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr8:65281294-65282273	H1-hESC	embryonic stem cell:	n/a	chr8:65281984-65282002 chr8:65282020-65282030 chr8:65281979-65281998
3	TAF1	chr8:65281258-65282574	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr8:65281115-65284061	H1-hESC	embryonic stem cell:	n/a	chr8:65282566-65282579 chr8:65282249-65282262
5	CTBP2	chr8:65281156-65284174	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:65280803-65284029	H1-hESC	embryonic stem cell:	n/a	n/a
7	HDAC2	chr8:65281419-65281588	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr8:65281008-65282601	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:65280622-65295094	H1-neurons	neurons:	n/a	n/a
10	REST	chr8:65278315-65295919	H1-neurons	neurons:	n/a	chr8:65287965-65287979 chr8:65292640-65292660 chr8:65287971-65287980 chr8:65282886-65282899 chr8:65292640-65292653 chr8:65292646-65292660 chr8:65284165-65284179 chr8:65286571-65286584 chr8:65282249-65282262 chr8:65292655-65292668 chr8:65290755-65290773 chr8:65292648-65292658 chr8:65286394-65286407 chr8:65282341-65282354 chr8:65292640-65292660 chr8:65282879-65282892 chr8:65289131-65289149 chr8:65284167-65284175 chr8:65281972-65281982 chr8:65282341-65282354 chr8:65287965-65287985 chr8:65292645-65292654 chr8:65282976-65282989 chr8:65289117-65289137 chr8:65292641-65292659 chr8:65289117-65289131 chr8:65283924-65283937 chr8:65292640-65292649 chr8:65292640-65292660 chr8:65292652-65292665 chr8:65287965-65287985 chr8:65282155-65282168 chr8:65282155-65282168 chr8:65281962-65281975 chr8:65292643-65292656 chr8:65289117-65289137 chr8:65292643-65292656 chr8:65293231-65293249 chr8:65289121-65289134 chr8:65287003-65287017
11	CEBPB	chr8:65281429-65281803	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr8:65281313-65281664	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr8:65281359-65288713	H1-neurons	neurons:	n/a	n/a
14	YY1	chr8:65281383-65282384	H1-hESC	embryonic stem cell:	n/a	chr8:65281955-65281969 chr8:65282338-65282349 chr8:65281958-65281972 chr8:65281961-65281975 chr8:65281876-65281887
15	POLR2A	chr8:65281363-65281608	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr8:65281250-65282244	H1-hESC	embryonic stem cell:	n/a	chr8:65281875-65281885
17	POLR2A	chr8:65281312-65281678	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr8:65281319-65282340	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr8:65281071-65283608	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr8:65281119-65281958	H1-hESC	embryonic stem cell:	n/a	n/a
21	GTF2F1	chr8:65281319-65281889	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr8:65281414-65281981	H1-neurons	neurons:	n/a	n/a
23	YY1	chr8:65281096-65282410	H1-hESC	embryonic stem cell:	n/a	chr8:65281955-65281969 chr8:65282338-65282349 chr8:65281958-65281972 chr8:65281961-65281975 chr8:65281382-65281401 chr8:65281876-65281887

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:65281424-65281474	AG04449	skin:	fetal
2	chr8:65281424-65281474	Hepatocyte	liver:	n/a
3	chr8:65281397-65281447	IMR90	lung:	fetal
4	chr8:65281397-65281447	AG09309	skin:	n/a
5	chr8:65281424-65281474	A549	lung:	n/a
6	chr8:65281397-65281447	HepG2	liver:	n/a
7	chr8:65281424-65281474	NH-A	brain:	n/a
8	chr8:65281397-65281447	SAEC	small airway:	n/a
9	chr8:65281397-65281447	GM12878	blood:	n/a
10	chr8:65281424-65281474	LNCaP	prostate:	n/a
11	chr8:65281424-65281474	HepG2	liver:	n/a
12	chr8:65281424-65281474	U87	brain:	n/a
13	chr8:65281397-65281447	NHDF-neo	bronchial:	n/a
14	chr8:65281397-65281447	U87	brain:	n/a
15	chr8:65281397-65281447	HRPEpiC	eye:	n/a
16	chr8:65281424-65281474	Hela-S3	cervix:	n/a
17	chr8:65281397-65281447	SK-N-SH_RA	brain:	n/a
18	chr8:65281397-65281447	HAEpiC	amniotic membrane:	n/a
19	chr8:65281397-65281447	HUVEC	blood vessel:	n/a
20	chr8:65281424-65281474	HCF	heart:	n/a
21	chr8:65281424-65281474	PANC-1	pancreas:	n/a
22	chr8:65281397-65281447	HEEpiC	esophagus:	n/a
23	chr8:65281397-65281447	SK-N-SH	brain:	n/a
24	chr8:65281424-65281474	SK-N-MC	brain:	n/a
25	chr8:65281397-65281447	ProgFib	skin:	n/a
26	chr8:65281424-65281474	AG10803	skin:	n/a
27	chr8:65281397-65281447	K562	blood:	n/a
28	chr8:65281397-65281447	HCF	heart:	n/a
29	chr8:65281424-65281474	NHBE	bronchial:	n/a
30	chr8:65281424-65281474	IMR90	lung:	fetal
31	chr8:65281424-65281474	HCPEpiC	choroid plexus:	n/a
32	chr8:65281424-65281474	HCT-116	colon:	n/a
33	chr8:65281397-65281447	PANC-1	pancreas:	n/a
34	chr8:65281424-65281474	HRPEpiC	eye:	n/a
35	chr8:65281397-65281447	GM12891	blood:	n/a
36	chr8:65281397-65281447	AoSMC	blood vessel:	n/a
37	chr8:65281424-65281474	PFSK-1	brain:	n/a
38	chr8:65281397-65281447	PrEC	prostate:	n/a
39	chr8:65281397-65281447	A549	lung:	n/a
40	chr8:65281424-65281474	AG09319	gingival:	n/a
41	chr8:65281397-65281447	T-47D	breast:	n/a
42	chr8:65281424-65281474	AoSMC	blood vessel:	n/a
43	chr8:65281424-65281474	RPTEC	kidney:	n/a
44	chr8:65281397-65281447	LNCaP	prostate:	n/a
45	chr8:65281397-65281447	MCF10A-Er-Src	breast:	n/a
46	chr8:65281424-65281474	HUVEC	blood vessel:	n/a
47	chr8:65281424-65281474	CMK	blood:	n/a
48	chr8:65281424-65281474	NHDF-neo	bronchial:	n/a
49	chr8:65281424-65281474	T-47D	breast:	n/a
50	chr8:65281397-65281447	CMK	blood:	n/a

Variant related genes	Relation type
LINC00966	TF binding region
ENSG00000253554	TF binding region
ENSG00000253554	CpG island
LINC00966	CpG island

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1031877	chr8:65240464-65291136	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1825065	chr8:65244654-65311200	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv3355215	chr8:65281423-65284271	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65278200-65282600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:65278600-65282200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:65280400-65282000	Bivalent Enhancer	Fetal Brain Male	brain
4	chr8:65281000-65282400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:65281000-65282400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:65281000-65282600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr8:65281000-65283600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:65281000-65284200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:65281200-65282000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:65281200-65282000	Enhancers	Spleen	Spleen
11	chr8:65281200-65282200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:65281200-65282600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:65281200-65283200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr8:65281200-65283200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:65281200-65283800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:65281200-65283800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr8:65281200-65283800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:65281200-65283800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:65281200-65283800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:65281200-65284000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:65281200-65284200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:65281400-65281600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:65281400-65281600	Bivalent Enhancer	Brain Hippocampus Middle	brain
24	chr8:65281400-65281600	Active TSS	Fetal Brain Female	brain
25	chr8:65281400-65281600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr8:65281400-65281600	Bivalent Enhancer	Fetal Thymus	thymus
27	chr8:65281400-65281600	Bivalent/Poised TSS	Right Ventricle	heart
28	chr8:65281400-65281600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr8:65281400-65281800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:65281400-65281800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
31	chr8:65281400-65282200	Active TSS	Brain Anterior Caudate	brain
32	chr8:65281400-65282200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
33	chr8:65281400-65282400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr8:65281400-65282600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr8:65281400-65283200	Bivalent Enhancer	Fetal Stomach	stomach

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