Variant report

Variant	rs2676639
Chromosome Location	chr8:69243745-69243746
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	MAX	chr8:69242668-69243823	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
2	CTCF	chr8:69243584-69243871	MCF-7	breast:	n/a	n/a
3	CTCF	chr8:69243580-69243808	MCF-7	breast:	n/a	n/a
4	SIN3A	chr8:69242446-69244878	H1-hESC	embryonic stem cell:	n/a	chr8:69244450-69244464 chr8:69243753-69243764 chr8:69243453-69243464 chr8:69243196-69243205 chr8:69244457-69244470
5	CTCF	chr8:69243600-69243750	NHEK	skin:	n/a	n/a
6	CTCF	chr8:69243624-69243778	MCF-7	breast:	n/a	n/a
7	MYC	chr8:69243741-69243745	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:69243626-69243809	LNCaP	prostate:	n/a	n/a
9	BACH1	chr8:69242862-69243752	H1-hESC	embryonic stem cell:	n/a	n/a
10	KAP1	chr8:69242465-69243925	HEK293	kidney:	n/a	n/a
11	TCF12	chr8:69243556-69243859	H1-hESC	embryonic stem cell:	n/a	chr8:69243737-69243744
12	CTCF	chr8:69243626-69243796	MCF-7	breast:	n/a	n/a
13	CHD2	chr8:69242636-69243750	H1-hESC	embryonic stem cell:	n/a	chr8:69243224-69243234 chr8:69243121-69243131
14	TBP	chr8:69242700-69243877	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr8:69243723-69243859	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr8:69242542-69244595	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
17	MYC	chr8:69243581-69243874	MCF-7	breast:	n/a	n/a
18	E2F6	chr8:69242454-69244094	H1-hESC	embryonic stem cell:	n/a	chr8:69242701-69242710 chr8:69242697-69242712 chr8:69242698-69242712 chr8:69243122-69243134 chr8:69242697-69242712 chr8:69242702-69242713
19	CTCF	chr8:69243620-69243770	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr8:69243660-69243810	HUVEC	blood vessel:	n/a	n/a
21	ZNF143	chr8:69242815-69243809	H1-hESC	embryonic stem cell:	n/a	chr8:69243196-69243206
22	CTCF	chr8:69243700-69243850	MCF-7	breast:	n/a	n/a
23	CTCF	chr8:69243557-69243811	A549	lung:	n/a	n/a
24	CTCF	chr8:69243594-69243803	LNCaP	prostate:	n/a	n/a
25	E2F6	chr8:69242603-69243964	H1-hESC	embryonic stem cell:	n/a	chr8:69242701-69242710 chr8:69242697-69242712 chr8:69242698-69242712 chr8:69243122-69243134 chr8:69242697-69242712 chr8:69242702-69242713
26	CHD1	chr8:69243419-69244042	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr8:69243620-69243770	HMEC	breast:	n/a	n/a
28	CTCF	chr8:69243638-69243768	H1-hESC	embryonic stem cell:	n/a	n/a
29	TEAD4	chr8:69243505-69243979	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr8:69243295-69243865	H1-hESC	embryonic stem cell:	n/a	chr8:69243354-69243368 chr8:69243353-69243367 chr8:69243331-69243345
31	MAX	chr8:69242571-69243938	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
32	CTCF	chr8:69243581-69243834	MCF-7	breast:	n/a	n/a
33	POLR2A	chr8:69243404-69243933	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr8:69242612-69243897	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr8:69243566-69243899	NHEK	skin:	n/a	n/a
36	CTBP2	chr8:69242647-69243935	H1-hESC	embryonic stem cell:	n/a	n/a
37	TEAD4	chr8:69243580-69243859	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr8:69242745-69243950	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000248801	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6991082	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs705992	0.81[EUR][1000 genomes]
rs73254833	0.81[EUR][1000 genomes]
rs814448	0.81[EUR][1000 genomes]

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	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv890979	chr8:69176154-69252417	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv890980	chr8:69181681-69252417	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3423266	chr8:69242023-69244571	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69242200-69246200	Active TSS	Brain Anterior Caudate	brain
2	chr8:69242200-69246200	Active TSS	Fetal Brain Female	brain
3	chr8:69242400-69244200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:69242400-69244200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:69242400-69244800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:69242400-69244800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:69242400-69244800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:69242400-69245000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:69242400-69245000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:69242400-69245000	Active TSS	Brain Angular Gyrus	brain
11	chr8:69242400-69245200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:69242400-69245200	Active TSS	Brain Hippocampus Middle	brain
13	chr8:69242600-69243800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:69242600-69243800	Active TSS	Fetal Kidney	kidney
15	chr8:69242600-69244000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:69242600-69244000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr8:69242600-69244000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
18	chr8:69242600-69244200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr8:69242600-69244400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr8:69242600-69244400	Bivalent/Poised TSS	Fetal Thymus	thymus
21	chr8:69242600-69244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:69242600-69244600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:69242600-69244600	Enhancers	Liver	Liver
24	chr8:69242600-69244600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr8:69242600-69244600	Active TSS	Pancreas	Pancrea
26	chr8:69242600-69244800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:69242600-69244800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr8:69242600-69245200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr8:69242600-69245200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr8:69242600-69245200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr8:69242600-69245200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:69242600-69245200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:69242600-69245200	Active TSS	Aorta	Aorta
34	chr8:69242800-69243800	Enhancers	Spleen	Spleen
35	chr8:69242800-69243800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr8:69242800-69244000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
37	chr8:69242800-69244000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr8:69242800-69244200	Bivalent/Poised TSS	A549	lung
39	chr8:69242800-69244200	Bivalent/Poised TSS	NHDF-Ad	bronchial
40	chr8:69242800-69244400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr8:69242800-69244400	Bivalent/Poised TSS	HSMM	muscle
42	chr8:69242800-69244400	Bivalent/Poised TSS	HSMMtube	muscle
43	chr8:69242800-69244600	Bivalent Enhancer	Placenta	Placenta
44	chr8:69242800-69244600	Bivalent/Poised TSS	Thymus	Thymus
45	chr8:69242800-69244800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr8:69242800-69244800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr8:69242800-69245000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
48	chr8:69242800-69245200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr8:69243000-69243800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr8:69243000-69243800	Bivalent/Poised TSS	NHEK	skin

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