Variant report

Variant	rs543119444
Chromosome Location	chr8:65282975-65282976
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	MAX	chr8:65281667-65283234	H1-hESC	embryonic stem cell:	n/a	chr8:65281873-65281883
2	TAF1	chr8:65282523-65283023	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr8:65282873-65283111	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr8:65282965-65283928	H1-hESC	embryonic stem cell:	n/a	chr8:65283033-65283042
5	SIN3A	chr8:65281115-65284061	H1-hESC	embryonic stem cell:	n/a	chr8:65282566-65282579 chr8:65282249-65282262
6	EP300	chr8:65282809-65283318	H1-hESC	embryonic stem cell:	n/a	chr8:65283034-65283043
7	POLR2A	chr8:65282854-65283437	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr8:65281156-65284174	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr8:65282852-65283363	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr8:65282825-65283660	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr8:65280803-65284029	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr8:65281790-65283716	H1-hESC	embryonic stem cell:	n/a	chr8:65281873-65281883
13	SP1	chr8:65282967-65283564	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr8:65280622-65295094	H1-neurons	neurons:	n/a	n/a
15	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
16	NANOG	chr8:65282952-65283308	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF12	chr8:65282905-65283307	H1-hESC	embryonic stem cell:	n/a	chr8:65283266-65283276
18	POU5F1	chr8:65282926-65283289	H1-hESC	embryonic stem cell:	n/a	chr8:65283102-65283110 chr8:65283096-65283110 chr8:65283097-65283111 chr8:65283096-65283110 chr8:65283096-65283110
19	E2F6	chr8:65282516-65283158	H1-hESC	embryonic stem cell:	n/a	chr8:65283028-65283038 chr8:65283030-65283039
20	POLR2A	chr8:65281359-65288713	H1-neurons	neurons:	n/a	n/a
21	TBP	chr8:65282910-65284024	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:65282841-65283099	H1-hESC	embryonic stem cell:	n/a	n/a
23	SUZ12	chr8:65282868-65287168	NT2-D1	testis:	n/a	n/a
24	HDAC2	chr8:65282975-65283321	H1-hESC	embryonic stem cell:	n/a	n/a
25	NANOG	chr8:65282813-65283377	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr8:65282817-65284159	H1-neurons	neurons:	n/a	n/a
27	ATF2	chr8:65282922-65283244	H1-hESC	embryonic stem cell:	n/a	n/a
28	GTF2F1	chr8:65282945-65283901	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr8:65281071-65283608	H1-hESC	embryonic stem cell:	n/a	n/a
30	POU5F1	chr8:65282925-65283283	H1-hESC	embryonic stem cell:	n/a	chr8:65283102-65283110 chr8:65283096-65283110 chr8:65283097-65283111 chr8:65283096-65283110 chr8:65283096-65283110
31	SP1	chr8:65282869-65283689	H1-hESC	embryonic stem cell:	n/a	chr8:65283559-65283568 chr8:65283559-65283569 chr8:65283555-65283569
32	CHD1	chr8:65282963-65283316	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF12	chr8:65282962-65283159	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:65282946-65282996	IMR90	lung:	fetal
2	chr8:65282946-65282996	HCF	heart:	n/a
3	chr8:65282946-65282996	K562	blood:	n/a
4	chr8:65282946-65282996	U87	brain:	n/a
5	chr8:65282946-65282996	SK-N-SH_RA	brain:	n/a
6	chr8:65282946-65282996	HCT-116	colon:	n/a
7	chr8:65282946-65282996	HRE	kidney:	n/a
8	chr8:65282946-65282996	Hela-S3	cervix:	n/a
9	chr8:65282946-65282996	Jurkat	blood:	n/a
10	chr8:65282946-65282996	GM12891	blood:	n/a
11	chr8:65282946-65282996	NHDF-neo	bronchial:	n/a
12	chr8:65282946-65282996	BE2_C	brain:	n/a
13	chr8:65282946-65282996	SAEC	small airway:	n/a
14	chr8:65282946-65282996	HEEpiC	esophagus:	n/a
15	chr8:65282946-65282996	SK-N-SH	brain:	n/a
16	chr8:65282946-65282996	LNCaP	prostate:	n/a
17	chr8:65282946-65282996	ProgFib	skin:	n/a
18	chr8:65282946-65282996	HMEC	breast:	n/a
19	chr8:65282946-65282996	NT2-D1	testis:	n/a
20	chr8:65282946-65282996	CMK	blood:	n/a
21	chr8:65282946-65282996	HEK293	kidney:	embryo
22	chr8:65282946-65282996	GM19239	blood:	n/a
23	chr8:65282946-65282996	HCM	heart:	n/a
24	chr8:65282946-65282996	A549	lung:	n/a
25	chr8:65282946-65282996	GM12878	blood:	n/a
26	chr8:65282946-65282996	HCPEpiC	choroid plexus:	n/a
27	chr8:65282946-65282996	Caco-2	colon:	n/a
28	chr8:65282946-65282996	MCF-7	breast:	n/a
29	chr8:65282946-65282996	HepG2	liver:	n/a
30	chr8:65282946-65282996	HRPEpiC	eye:	n/a
31	chr8:65282946-65282996	H1-hESC	embryonic stem cell:	embryo
32	chr8:65282946-65282996	NB4	blood:	n/a
33	chr8:65282946-65282996	PANC-1	pancreas:	n/a
34	chr8:65282946-65282996	RPTEC	kidney:	n/a
35	chr8:65282946-65282996	HUVEC	blood vessel:	n/a
36	chr8:65282946-65282996	AG10803	skin:	n/a
37	chr8:65282946-65282996	HNPCEpiC	eye:	n/a
38	chr8:65282946-65282996	AG09309	skin:	n/a
39	chr8:65282946-65282996	HL-60	blood:	n/a
40	chr8:65282946-65282996	AG04450	lung:	fetal
41	chr8:65282946-65282996	PFSK-1	brain:	n/a
42	chr8:65282946-65282996	Hepatocyte	liver:	n/a
43	chr8:65282946-65282996	GM06990	blood:	n/a
44	chr8:65282946-65282996	HRCEpiC	kidney:	n/a
45	chr8:65282946-65282996	NHBE	bronchial:	n/a
46	chr8:65282946-65282996	HAEpiC	amniotic membrane:	n/a
47	chr8:65282946-65282996	BJ	skin:	n/a
48	chr8:65282946-65282996	HIPEpiC	eye:	n/a
49	chr8:65282946-65282996	PrEC	prostate:	n/a
50	chr8:65282946-65282996	AoSMC	blood vessel:	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65281000-65283600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr8:65281000-65284200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:65281200-65283200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr8:65281200-65283200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:65281200-65283800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:65281200-65283800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:65281200-65283800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr8:65281200-65283800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:65281200-65283800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:65281200-65284000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:65281200-65284200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:65281400-65283200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr8:65281600-65283000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr8:65281600-65284600	Bivalent Enhancer	Liver	Liver
15	chr8:65281800-65283000	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr8:65281800-65283400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
17	chr8:65281800-65283600	Enhancers	Pancreas	Pancrea
18	chr8:65281800-65284000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr8:65282000-65283000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:65282000-65283000	Active TSS	Aorta	Aorta
21	chr8:65282000-65283200	Bivalent Enhancer	Spleen	Spleen
22	chr8:65282000-65284200	Active TSS	Fetal Brain Female	brain
23	chr8:65282000-65285400	Enhancers	Fetal Brain Male	brain
24	chr8:65282200-65283200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:65282200-65283200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr8:65282200-65283800	Bivalent Enhancer	Lung	lung
27	chr8:65282400-65283000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
28	chr8:65282400-65283200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
29	chr8:65282400-65283800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:65282600-65283000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:65282600-65283000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:65282600-65283000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:65282600-65283200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:65282600-65283800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr8:65282600-65284600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:65282600-65286200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr8:65282800-65283000	Genic enhancers	Right Atrium	heart
38	chr8:65282800-65283400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr8:65282800-65283400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:65282800-65289200	Weak transcription	Gastric	stomach

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