Variant report

Variant	rs62521288
Chromosome Location	chr8:124554317-124554318
allele	A/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	SMARCB1	chr8:124552866-124554356	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr8:124554180-124554330	HCPEpiC	choroid plexus:	n/a	n/a
3	MXI1	chr8:124552364-124554729	SK-N-SH	brain:	n/a	chr8:124553545-124553554 chr8:124553545-124553554 chr8:124553547-124553556
4	CTCF	chr8:124554220-124554370	GM12866	blood:	n/a	n/a
5	SIN3A	chr8:124552100-124554424	H1-hESC	embryonic stem cell:	n/a	chr8:124553764-124553773 chr8:124553837-124553850 chr8:124552562-124552575 chr8:124553545-124553554 chr8:124553547-124553556
6	ELF1	chr8:124552263-124554678	HCT-116	colon:	n/a	n/a
7	SMC3	chr8:124554080-124554362	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr8:124554200-124554350	BE2_C	brain:	n/a	n/a
9	RAD21	chr8:124553309-124554336	H1-hESC	embryonic stem cell:	n/a	chr8:124553697-124553707 chr8:124553451-124553465
10	SIN3AK20	chr8:124552286-124554549	HCT-116	colon:	n/a	n/a
11	CTCF	chr8:124554220-124554370	GM12875	blood:	n/a	n/a
12	CTCF	chr8:124554240-124554390	HepG2	liver:	n/a	n/a
13	MAZ	chr8:124551838-124554351	IMR90	lung:	n/a	chr8:124553546-124553556 chr8:124553545-124553555 chr8:124553544-124553557 chr8:124553549-124553557 chr8:124553546-124553556 chr8:124553541-124553560 chr8:124553544-124553557 chr8:124553545-124553556 chr8:124553544-124553557 chr8:124553847-124553857 chr8:124553546-124553555 chr8:124553545-124553556 chr8:124553786-124553796 chr8:124553545-124553555 chr8:124553545-124553556 chr8:124553544-124553557
14	SIN3AK20	chr8:124552820-124554662	MCF-7	breast:	n/a	n/a
15	MAX	chr8:124553040-124554339	HCT-116	colon:	n/a	chr8:124553546-124553556 chr8:124553545-124553555 chr8:124553544-124553557 chr8:124553549-124553557 chr8:124553546-124553556 chr8:124553541-124553560 chr8:124553544-124553557 chr8:124553545-124553556 chr8:124553544-124553557 chr8:124553847-124553857 chr8:124553546-124553555 chr8:124553545-124553556 chr8:124553786-124553796 chr8:124553545-124553555 chr8:124553545-124553556 chr8:124553544-124553557
16	ELF1	chr8:124552863-124554580	MCF-7	breast:	n/a	n/a
17	HDAC2	chr8:124552571-124554655	MCF-7	breast:	n/a	chr8:124554156-124554170 chr8:124554154-124554168
18	MYC	chr8:124553403-124554375	A549	lung:	n/a	chr8:124553546-124553556 chr8:124553545-124553555 chr8:124553544-124553557 chr8:124553549-124553557 chr8:124553546-124553556 chr8:124553541-124553560 chr8:124553544-124553557 chr8:124553545-124553556 chr8:124553544-124553557 chr8:124553847-124553857 chr8:124553546-124553555 chr8:124553545-124553556 chr8:124553786-124553796 chr8:124553545-124553555 chr8:124553545-124553556 chr8:124553544-124553557
19	CTCF	chr8:124554240-124554390	BE2_C	brain:	n/a	n/a
20	NR2F2	chr8:124553108-124554416	MCF-7	breast:	n/a	n/a
21	MAX	chr8:124552835-124554599	MCF-7	breast:	n/a	chr8:124553546-124553556 chr8:124553545-124553555 chr8:124553544-124553557 chr8:124553549-124553557 chr8:124553546-124553556 chr8:124553541-124553560 chr8:124553544-124553557 chr8:124553545-124553556 chr8:124553544-124553557 chr8:124553847-124553857 chr8:124553546-124553555 chr8:124553545-124553556 chr8:124553786-124553796 chr8:124553545-124553555 chr8:124553545-124553556 chr8:124553544-124553557
22	CHD1	chr8:124554087-124554339	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr8:124554300-124554450	GM12864	blood:	n/a	n/a
24	CTCF	chr8:124553868-124554471	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:124554240-124554390	NHLF	lung:	n/a	n/a
26	CTCF	chr8:124554260-124554410	HRPEpiC	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124553792..124555367-chr8:124579978..124581505,2	MCF-7	breast:
2	chr8:124553519..124555734-chr8:124689703..124692521,2	MCF-7	breast:
3	chr8:124553676..124556595-chr8:124642690..124644811,2	MCF-7	breast:

Variant related genes	Relation type
FBXO32	TF binding region
ENSG00000254113	Chromatin interaction

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

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

rs_ID	r²[population]
rs17337621	0.93[EUR][1000 genomes]
rs62521284	0.93[EUR][1000 genomes]
rs62521286	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521287	0.98[EUR][1000 genomes]
rs62521289	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521291	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62521292	0.82[EUR][1000 genomes]
rs6999582	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124548800-124554400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:124550200-124554600	Active TSS	Fetal Brain Female	brain
3	chr8:124550800-124554400	Active TSS	Ovary	ovary
4	chr8:124550800-124554400	Active TSS	Psoas Muscle	Psoas
5	chr8:124552000-124554400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:124552000-124554600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:124552200-124554400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:124552400-124554400	Active TSS	Right Atrium	heart
9	chr8:124552600-124554400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:124552600-124554400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:124552600-124554400	Active TSS	Esophagus	oesophagus
12	chr8:124552600-124554600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:124552600-124554600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:124552800-124554600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr8:124553000-124554400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:124553400-124554600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr8:124553600-124554600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr8:124553800-124554400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
19	chr8:124553800-124554400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr8:124553800-124554400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:124553800-124554400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:124553800-124554400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:124553800-124554400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:124553800-124554400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:124553800-124554400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:124553800-124554400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:124553800-124554400	Flanking Active TSS	Hela-S3	cervix
28	chr8:124553800-124554400	Flanking Active TSS	HUVEC	blood vessel
29	chr8:124553800-124554400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr8:124553800-124554600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr8:124553800-124554600	Flanking Active TSS	Colonic Mucosa	Colon
32	chr8:124553800-124554600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:124553800-124554600	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr8:124553800-124554600	Flanking Active TSS	Dnd41	blood
35	chr8:124553800-124554600	Flanking Active TSS	NHEK	skin
36	chr8:124554000-124554400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:124554000-124554400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:124554000-124554400	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr8:124554000-124554400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:124554000-124554400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:124554000-124554400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr8:124554000-124554400	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr8:124554000-124554400	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr8:124554000-124554400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr8:124554000-124554400	Flanking Bivalent TSS/Enh	Placenta	Placenta
46	chr8:124554000-124554400	Enhancers	Spleen	Spleen
47	chr8:124554000-124554400	Flanking Active TSS	NHDF-Ad	bronchial
48	chr8:124554000-124554400	Flanking Active TSS	Osteobl	bone
49	chr8:124554000-124554600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:124554000-124554600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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