Variant report

Variant	rs555244228
Chromosome Location	chr8:69243043-69243044
allele	A/C
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	CTCF	chr8:69242853-69243278	MCF-7	breast:	n/a	chr8:69243128-69243138
2	MYC	chr8:69242885-69243312	MCF-7	breast:	n/a	n/a
3	GTF2F1	chr8:69243035-69243213	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:69242815-69243293	A549	lung:	n/a	chr8:69243128-69243138
5	CTCF	chr8:69242960-69243110	A549	lung:	n/a	n/a
6	MAX	chr8:69242668-69243823	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
7	MXI1	chr8:69242920-69243266	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:69242920-69243070	HRPEpiC	eye:	n/a	n/a
9	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
10	CTCF	chr8:69242859-69243248	MCF-7	breast:	n/a	chr8:69243128-69243138
11	TEAD4	chr8:69242849-69243334	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:69243020-69243170	HMEC	breast:	n/a	chr8:69243128-69243138
13	MYC	chr8:69242973-69243177	MCF-7	breast:	n/a	n/a
14	POLR2A	chr8:69242959-69243276	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr8:69242960-69243110	HAc	cerebellar:	n/a	n/a
16	BACH1	chr8:69242862-69243752	H1-hESC	embryonic stem cell:	n/a	n/a
17	KAP1	chr8:69242465-69243925	HEK293	kidney:	n/a	n/a
18	CTCF	chr8:69242863-69243298	Fibrobl	skin:	n/a	chr8:69243128-69243138
19	CHD2	chr8:69242636-69243750	H1-hESC	embryonic stem cell:	n/a	chr8:69243224-69243234 chr8:69243121-69243131
20	TBP	chr8:69242700-69243877	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr8:69243020-69243170	NHEK	skin:	n/a	chr8:69243128-69243138
22	CTCF	chr8:69242868-69243286	NHEK	skin:	n/a	chr8:69243128-69243138
23	MAX	chr8:69242542-69244595	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
24	CTCF	chr8:69242865-69243280	MCF-7	breast:	n/a	chr8:69243128-69243138
25	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
26	CTCF	chr8:69243040-69243190	HPF	lung:	n/a	chr8:69243128-69243138
27	CEBPB	chr8:69242704-69243064	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr8:69243040-69243190	HRE	kidney:	n/a	chr8:69243128-69243138
29	POLR2A	chr8:69242834-69243283	H1-neurons	neurons:	n/a	n/a
30	RAD21	chr8:69242864-69243361	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr8:69242769-69243740	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr8:69242788-69243368	A549	lung:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
33	CTCF	chr8:69243040-69243190	HUVEC	blood vessel:	n/a	chr8:69243128-69243138
34	ZNF143	chr8:69242815-69243809	H1-hESC	embryonic stem cell:	n/a	chr8:69243196-69243206
35	CTCF	chr8:69242836-69243288	ProgFib	skin:	n/a	chr8:69243128-69243138
36	POLR2A	chr8:69243022-69243075	MCF-7	breast:	n/a	n/a
37	CTCF	chr8:69243040-69243190	NHDF-neo	bronchial:	n/a	chr8:69243128-69243138
38	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
39	POLR2A	chr8:69242826-69243721	H1-neurons	neurons:	n/a	n/a
40	CTCF	chr8:69242866-69243346	MCF-7	breast:	n/a	chr8:69243128-69243138
41	CTCF	chr8:69242900-69243050	MCF-7	breast:	n/a	n/a
42	MAX	chr8:69242871-69243341	A549	lung:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
43	GABPA	chr8:69242695-69243266	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr8:69242667-69243295	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr8:69242735-69243268	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr8:69242991-69243250	H1-hESC	embryonic stem cell:	n/a	chr8:69243128-69243138
47	MAX	chr8:69242571-69243938	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
48	CTCF	chr8:69242954-69243337	H1-hESC	embryonic stem cell:	n/a	chr8:69243128-69243138
49	CTCF	chr8:69242960-69243110	SK-N-SH_RA	brain:	n/a	n/a
50	RAD21	chr8:69242612-69243897	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
C8orf34	TF binding region

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	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:101 , 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	chr8:69242400-69243400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:69242400-69243400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr8:69242400-69243400	Active TSS	Brain Substantia Nigra	brain
6	chr8:69242400-69243400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
7	chr8:69242400-69244200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:69242400-69244200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:69242400-69244800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:69242400-69244800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:69242400-69244800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
12	chr8:69242400-69245000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:69242400-69245000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:69242400-69245000	Active TSS	Brain Angular Gyrus	brain
15	chr8:69242400-69245200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:69242400-69245200	Active TSS	Brain Hippocampus Middle	brain
17	chr8:69242600-69243200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:69242600-69243200	Active TSS	Adipose Nuclei	Adipose
19	chr8:69242600-69243200	Bivalent/Poised TSS	NH-A	brain
20	chr8:69242600-69243400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:69242600-69243400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
22	chr8:69242600-69243600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:69242600-69243600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:69242600-69243600	Bivalent/Poised TSS	Left Ventricle	heart
25	chr8:69242600-69243800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:69242600-69243800	Active TSS	Fetal Kidney	kidney
27	chr8:69242600-69244000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:69242600-69244000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:69242600-69244000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr8:69242600-69244200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr8:69242600-69244400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr8:69242600-69244400	Bivalent/Poised TSS	Fetal Thymus	thymus
33	chr8:69242600-69244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:69242600-69244600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:69242600-69244600	Enhancers	Liver	Liver
36	chr8:69242600-69244600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr8:69242600-69244600	Active TSS	Pancreas	Pancrea
38	chr8:69242600-69244800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:69242600-69244800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr8:69242600-69245200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr8:69242600-69245200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:69242600-69245200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr8:69242600-69245200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr8:69242600-69245200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:69242600-69245200	Active TSS	Aorta	Aorta
46	chr8:69242800-69243200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:69242800-69243200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr8:69242800-69243200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr8:69242800-69243200	Active TSS	Gastric	stomach
50	chr8:69242800-69243200	Flanking Active TSS	Right Atrium	heart

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