Variant report

Variant	rs73683492
Chromosome Location	chr8:69242966-69242967
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	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	CTCF	chr8:69242815-69243293	A549	lung:	n/a	chr8:69243128-69243138
4	CTCF	chr8:69242960-69243110	A549	lung:	n/a	n/a
5	MAX	chr8:69242668-69243823	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
6	MXI1	chr8:69242920-69243266	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:69242920-69243070	HRPEpiC	eye:	n/a	n/a
8	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
9	CTCF	chr8:69242859-69243248	MCF-7	breast:	n/a	chr8:69243128-69243138
10	TEAD4	chr8:69242849-69243334	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr8:69242959-69243276	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:69242960-69243110	HAc	cerebellar:	n/a	n/a
13	BACH1	chr8:69242862-69243752	H1-hESC	embryonic stem cell:	n/a	n/a
14	KAP1	chr8:69242465-69243925	HEK293	kidney:	n/a	n/a
15	CTCF	chr8:69242863-69243298	Fibrobl	skin:	n/a	chr8:69243128-69243138
16	CTCF	chr8:69242840-69242990	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr8:69242820-69242970	RPTEC	kidney:	n/a	n/a
18	CHD2	chr8:69242636-69243750	H1-hESC	embryonic stem cell:	n/a	chr8:69243224-69243234 chr8:69243121-69243131
19	TBP	chr8:69242700-69243877	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr8:69242860-69243010	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr8:69242868-69243286	NHEK	skin:	n/a	chr8:69243128-69243138
22	MAX	chr8:69242542-69244595	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
23	POLR2A	chr8:69242751-69243023	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:69242840-69242990	HMF	breast:	n/a	n/a
25	CTCF	chr8:69242865-69243280	MCF-7	breast:	n/a	chr8:69243128-69243138
26	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
27	CEBPB	chr8:69242704-69243064	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr8:69242834-69243283	H1-neurons	neurons:	n/a	n/a
29	RAD21	chr8:69242864-69243361	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr8:69242769-69243740	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr8:69242788-69243368	A549	lung:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
32	ZNF143	chr8:69242815-69243809	H1-hESC	embryonic stem cell:	n/a	chr8:69243196-69243206
33	CTCF	chr8:69242836-69243288	ProgFib	skin:	n/a	chr8:69243128-69243138
34	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
35	POLR2A	chr8:69242826-69243721	H1-neurons	neurons:	n/a	n/a
36	CTCF	chr8:69242866-69243346	MCF-7	breast:	n/a	chr8:69243128-69243138
37	CTCF	chr8:69242840-69242990	RPTEC	kidney:	n/a	n/a
38	CTCF	chr8:69242900-69243050	MCF-7	breast:	n/a	n/a
39	MAX	chr8:69242871-69243341	A549	lung:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
40	GABPA	chr8:69242695-69243266	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUND	chr8:69242667-69243295	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr8:69242842-69242995	MCF-7	breast:	n/a	n/a
43	CREB1	chr8:69242735-69243268	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr8:69242820-69242970	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr8:69242840-69242990	HCPEpiC	choroid plexus:	n/a	n/a
46	MAX	chr8:69242571-69243938	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
47	CTCF	chr8:69242820-69242970	HBMEC	blood vessel:	n/a	n/a
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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:69242921-69242971	HCF	heart:	n/a
2	chr8:69242921-69242971	NHBE	bronchial:	n/a
3	chr8:69242921-69242971	HCM	heart:	n/a
4	chr8:69242921-69242971	H1-hESC	embryonic stem cell:	embryo
5	chr8:69242921-69242971	AoSMC	blood vessel:	n/a
6	chr8:69242921-69242971	HEEpiC	esophagus:	n/a
7	chr8:69242921-69242971	HMEC	breast:	n/a
8	chr8:69242921-69242971	ovcar-3	ovarian:	n/a
9	chr8:69242921-69242971	SAEC	small airway:	n/a
10	chr8:69242921-69242971	HL-60	blood:	n/a
11	chr8:69242921-69242971	HRPEpiC	eye:	n/a
12	chr8:69242921-69242971	AG09319	gingival:	n/a
13	chr8:69242921-69242971	SKMC	muscle:	n/a
14	chr8:69242921-69242971	HEK293	kidney:	embryo
15	chr8:69242921-69242971	U87	brain:	n/a
16	chr8:69242921-69242971	GM12878	blood:	n/a
17	chr8:69242921-69242971	HRCEpiC	kidney:	n/a
18	chr8:69242921-69242971	NH-A	brain:	n/a
19	chr8:69242921-69242971	HRE	kidney:	n/a
20	chr8:69242921-69242971	RPTEC	kidney:	n/a
21	chr8:69242921-69242971	CMK	blood:	n/a
22	chr8:69242921-69242971	AG10803	skin:	n/a
23	chr8:69242921-69242971	HNPCEpiC	eye:	n/a
24	chr8:69242921-69242971	ECC-1	luminal epithelium:	n/a
25	chr8:69242921-69242971	GM06990	blood:	n/a
26	chr8:69242921-69242971	Hepatocyte	liver:	n/a
27	chr8:69242921-69242971	BE2_C	brain:	n/a
28	chr8:69242921-69242971	NHDF-neo	bronchial:	n/a
29	chr8:69242921-69242971	AG04450	lung:	fetal
30	chr8:69242921-69242971	HPAEpiC	pulmonary alveolar:	n/a
31	chr8:69242921-69242971	NB4	blood:	n/a
32	chr8:69242921-69242971	GM19239	blood:	n/a
33	chr8:69242921-69242971	NT2-D1	testis:	n/a
34	chr8:69242921-69242971	A549	lung:	n/a
35	chr8:69242921-69242971	HCT-116	colon:	n/a
36	chr8:69242921-69242971	HIPEpiC	eye:	n/a
37	chr8:69242921-69242971	Caco-2	colon:	n/a
38	chr8:69242921-69242971	HAEpiC	amniotic membrane:	n/a
39	chr8:69242921-69242971	K562	blood:	n/a
40	chr8:69242921-69242971	IMR90	lung:	fetal
41	chr8:69242921-69242971	Hela-S3	cervix:	n/a
42	chr8:69242921-69242971	SK-N-SH_RA	brain:	n/a
43	chr8:69242921-69242971	GM12891	blood:	n/a
44	chr8:69242921-69242971	AG04449	skin:	fetal
45	chr8:69242921-69242971	PANC-1	pancreas:	n/a
46	chr8:69242921-69242971	AG09309	skin:	n/a
47	chr8:69242921-69242971	SK-N-SH	brain:	n/a
48	chr8:69242921-69242971	HepG2	liver:	n/a
49	chr8:69242921-69242971	HCPEpiC	choroid plexus:	n/a
50	chr8:69242921-69242971	HUVEC	blood vessel:	n/a

Variant related genes	Relation type
C8orf34	TF binding region
C8orf34	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58633012	0.91[AFR][1000 genomes]
rs58890164	0.91[AFR][1000 genomes]
rs73254830	0.84[AFR][1000 genomes]
rs73254835	0.91[AFR][1000 genomes]
rs73254836	0.91[AFR][1000 genomes]
rs73254843	0.84[AFR][1000 genomes]
rs73262977	0.91[AFR][1000 genomes]
rs73262979	0.91[AFR][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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69242200-69243000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:69242200-69246200	Active TSS	Brain Anterior Caudate	brain
3	chr8:69242200-69246200	Active TSS	Fetal Brain Female	brain
4	chr8:69242400-69243000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:69242400-69243400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:69242400-69243400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:69242400-69243400	Active TSS	Brain Substantia Nigra	brain
8	chr8:69242400-69243400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
9	chr8:69242400-69244200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:69242400-69244200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:69242400-69244800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:69242400-69244800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:69242400-69244800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:69242400-69245000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr8:69242400-69245000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr8:69242400-69245000	Active TSS	Brain Angular Gyrus	brain
17	chr8:69242400-69245200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:69242400-69245200	Active TSS	Brain Hippocampus Middle	brain
19	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:69242600-69243000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:69242600-69243000	Flanking Active TSS	Esophagus	oesophagus
25	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
26	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr8:69242600-69243000	Active TSS	Lung	lung
28	chr8:69242600-69243000	Bivalent/Poised TSS	HMEC	breast
29	chr8:69242600-69243200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:69242600-69243200	Active TSS	Adipose Nuclei	Adipose
31	chr8:69242600-69243200	Bivalent/Poised TSS	NH-A	brain
32	chr8:69242600-69243400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:69242600-69243400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
34	chr8:69242600-69243600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:69242600-69243600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:69242600-69243600	Bivalent/Poised TSS	Left Ventricle	heart
37	chr8:69242600-69243800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:69242600-69243800	Active TSS	Fetal Kidney	kidney
39	chr8:69242600-69244000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:69242600-69244000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:69242600-69244000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
42	chr8:69242600-69244200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr8:69242600-69244400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr8:69242600-69244400	Bivalent/Poised TSS	Fetal Thymus	thymus
45	chr8:69242600-69244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:69242600-69244600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:69242600-69244600	Enhancers	Liver	Liver
48	chr8:69242600-69244600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr8:69242600-69244600	Active TSS	Pancreas	Pancrea
50	chr8:69242600-69244800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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