Variant report

Variant	rs62519833
Chromosome Location	chr8:65487989-65487990
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	RCOR1	chr8:65487759-65488065	GM12878	blood:	n/a	n/a
2	RAD21	chr8:65487625-65488593	H1-hESC	embryonic stem cell:	n/a	chr8:65487788-65487807
3	BACH1	chr8:65487654-65489048	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:65487860-65488010	A549	lung:	n/a	n/a
5	CTCF	chr8:65487581-65488073	GM12878	blood:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
6	CTCF	chr8:65487445-65488386	A549	lung:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
7	RAD21	chr8:65487593-65488343	GM12878	blood:	n/a	chr8:65487788-65487807
8	RAD21	chr8:65487504-65488328	SK-N-SH	brain:	n/a	chr8:65487788-65487807
9	ZNF143	chr8:65487614-65488012	GM12878	blood:	n/a	n/a
10	RAD21	chr8:65487633-65488116	A549	lung:	n/a	chr8:65487788-65487807
11	WRNIP1	chr8:65487756-65488323	GM12878	blood:	n/a	n/a
12	RXRA	chr8:65487681-65488034	GM12878	blood:	n/a	chr8:65487787-65487807
13	CTCF	chr8:65487593-65488086	MCF-7	breast:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
14	RAD21	chr8:65487530-65488045	H1-hESC	embryonic stem cell:	n/a	chr8:65487788-65487807
15	CTCF	chr8:65487539-65488052	MCF-7	breast:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
16	POLR2A	chr8:65487624-65488859	SK-N-MC	brain:	n/a	n/a
17	CTCF	chr8:65487594-65488007	T-47D	breast:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
18	BHLHE40	chr8:65487649-65488107	GM12878	blood:	n/a	n/a
19	CTCF	chr8:65487571-65488008	HepG2	liver:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
20	POLR2A	chr8:65487530-65488263	SK-N-MC	brain:	n/a	n/a
21	RAD21	chr8:65487560-65488106	A549	lung:	n/a	chr8:65487788-65487807
22	CTCF	chr8:65487644-65488028	HCT-116	colon:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
23	RAD21	chr8:65487549-65488010	HCT-116	colon:	n/a	chr8:65487788-65487807
24	MAZ	chr8:65487691-65488066	GM12878	blood:	n/a	n/a
25	RAD21	chr8:65487583-65488102	H1-hESC	embryonic stem cell:	n/a	chr8:65487788-65487807
26	CTCF	chr8:65487840-65487990	WI-38	lung:	n/a	n/a
27	EBF1	chr8:65487661-65489262	GM12878	blood:	n/a	chr8:65488021-65488030
28	RUNX3	chr8:65487640-65488018	GM12878	blood:	n/a	n/a
29	RAD21	chr8:65487571-65488027	SK-N-SH_RA	brain:	n/a	chr8:65487788-65487807
30	RAD21	chr8:65487633-65488011	ECC-1	luminal epithelium:	n/a	chr8:65487788-65487807
31	RAD21	chr8:65487693-65487990	HCT-116	colon:	n/a	chr8:65487788-65487807
32	CTCF	chr8:65487601-65487993	IMR90	lung:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
33	CTCF	chr8:65487960-65488110	GM12872	blood:	n/a	n/a
34	CTCF	chr8:65487445-65488191	SK-N-SH	brain:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
35	EP300	chr8:65487740-65488143	GM12878	blood:	n/a	chr8:65487853-65487867
36	RAD21	chr8:65487622-65488174	IMR90	lung:	n/a	chr8:65487788-65487807
37	SMC3	chr8:65487464-65488256	SK-N-SH	brain:	n/a	chr8:65487789-65487803
38	RAD21	chr8:65487666-65488005	ECC-1	luminal epithelium:	n/a	chr8:65487788-65487807
39	RAD21	chr8:65487633-65488014	GM12878	blood:	n/a	chr8:65487788-65487807
40	SMC3	chr8:65487593-65488180	GM12878	blood:	n/a	chr8:65487789-65487803
41	RAD21	chr8:65487530-65488044	HepG2	liver:	n/a	chr8:65487788-65487807
42	CTCF	chr8:65487602-65488022	K562	blood:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805
43	CTCF	chr8:65487701-65488058	K562	blood:	n/a	chr8:65487790-65487803 chr8:65487788-65487804 chr8:65487789-65487810 chr8:65487787-65487805

No.	Distal block	Cell Line	Cell type
1	chr8:65487338..65488298-chr8:65607702..65608928,8	MCF-7	breast:
2	chr8:65487469..65488235-chr8:66474178..66474825,2	MCF-7	breast:
3	chr8:65487356..65488176-chr8:66474016..66474937,2	K562	blood:
4	chr8:65487793..65488530-chr8:66055332..66056136,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP7B1-2	chr8:65486863-65489185	ENSG00000254102
2	lnc-CYP7B1-2	chr8:65486866-65489185	NR_015374

Variant related genes	Relation type
BHLHE22	TF binding region
ENSG00000253800	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs62519822	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519827	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519832	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519835	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519839	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650210	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65487800-65488000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:65487800-65488000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr8:65487800-65488000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:65487800-65488000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:65487800-65488000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:65487800-65488000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:65487800-65488000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:65487800-65488000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr8:65487800-65488000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr8:65487800-65488000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:65487800-65488000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:65487800-65488000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:65487800-65488000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:65487800-65488000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:65487800-65488000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:65487800-65488000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
17	chr8:65487800-65488000	Bivalent/Poised TSS	Liver	Liver
18	chr8:65487800-65488000	Active TSS	Brain Angular Gyrus	brain
19	chr8:65487800-65488000	Active TSS	Brain Substantia Nigra	brain
20	chr8:65487800-65488000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr8:65487800-65488000	Active TSS	Fetal Brain Male	brain
22	chr8:65487800-65488000	Bivalent/Poised TSS	Fetal Lung	lung
23	chr8:65487800-65488000	Active TSS	Fetal Muscle Trunk	muscle
24	chr8:65487800-65488000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
25	chr8:65487800-65488000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
26	chr8:65487800-65488000	Bivalent/Poised TSS	GM12878-XiMat	blood
27	chr8:65487800-65488000	Bivalent/Poised TSS	NHEK	skin
28	chr8:65487800-65488000	Active TSS	Osteobl	bone
29	chr8:65487800-65488200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr8:65487800-65488200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:65487800-65488200	Active TSS	Brain Hippocampus Middle	brain
32	chr8:65487800-65488200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr8:65487800-65488200	Active TSS	Ovary	ovary
34	chr8:65487800-65488200	Bivalent/Poised TSS	Right Ventricle	heart
35	chr8:65487800-65488400	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr8:65487800-65488600	Active TSS	Right Atrium	heart
37	chr8:65487800-65488800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr8:65487800-65489000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr8:65487800-65489200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr8:65487800-65490600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
41	chr8:65487800-65491400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:65487800-65491800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr8:65487800-65492800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain

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