Variant report

Variant	rs62523277
Chromosome Location	chr8:95218162-95218163
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	CTCF	chr8:95218154-95218796	HCT-116	colon:	n/a	chr8:95218433-95218442
2	CTCF	chr8:95218020-95218170	GM12878	blood:	n/a	n/a
3	CTCF	chr8:95218160-95218310	GM12872	blood:	n/a	n/a
4	CTCF	chr8:95218120-95218270	BE2_C	brain:	n/a	n/a
5	CTCF	chr8:95218100-95218250	HFF-Myc	foreskin:	n/a	n/a
6	CTCF	chr8:95218020-95218170	GM06990	blood:	n/a	n/a
7	CTCF	chr8:95218040-95218190	SAEC	small airway:	n/a	n/a
8	CTCF	chr8:95218120-95218270	GM12871	blood:	n/a	n/a
9	CEBPB	chr8:95218147-95219200	HCT-116	colon:	n/a	chr8:95218564-95218576
10	RAD21	chr8:95218109-95218759	HCT-116	colon:	n/a	n/a
11	CEBPB	chr8:95218105-95219430	HCT-116	colon:	n/a	chr8:95218564-95218576
12	CTCF	chr8:95218100-95218250	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr8:95218100-95218250	HPF	lung:	n/a	n/a
14	CTCF	chr8:95218100-95218250	BE2_C	brain:	n/a	n/a
15	CTCF	chr8:95217278-95219012	A549	lung:	n/a	chr8:95218433-95218442

No.	Distal block	Cell Line	Cell type
1	chr8:95217922..95218880-chr8:95369574..95370256,2	MCF-7	breast:
2	chr8:95216472..95218639-chr8:95229347..95231439,2	MCF-7	breast:
3	chr8:95217720..95220608-chr8:95221827..95224129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249510	TF binding region
ENSG00000079112	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10504934	0.82[ASN][1000 genomes]
rs10956904	0.82[ASN][1000 genomes]
rs10956905	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777372	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056835	0.84[EUR][1000 genomes]
rs12114629	1.00[ASN][1000 genomes]
rs1350283	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17727794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817244	0.82[ASN][1000 genomes]
rs1817245	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971965	0.81[ASN][1000 genomes]
rs2005489	0.82[ASN][1000 genomes]
rs2613221	0.84[ASN][1000 genomes]
rs2613225	0.82[ASN][1000 genomes]
rs2623155	0.82[ASN][1000 genomes]
rs2623156	0.82[ASN][1000 genomes]
rs2623157	0.82[ASN][1000 genomes]
rs2623165	0.82[ASN][1000 genomes]
rs34689002	0.80[ASN][1000 genomes]
rs3757995	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3886489	0.84[EUR][1000 genomes]
rs4587298	0.82[ASN][1000 genomes]
rs4734271	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55795711	0.82[ASN][1000 genomes]
rs56129387	0.82[ASN][1000 genomes]
rs59773910	0.83[ASN][1000 genomes]
rs60945589	0.83[ASN][1000 genomes]
rs62523262	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62523265	0.83[ASN][1000 genomes]
rs62523266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523279	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6981215	0.97[ASN][1000 genomes]
rs6989467	0.82[ASN][1000 genomes]
rs723360	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755917	0.97[ASN][1000 genomes]
rs7819765	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs874019	0.82[ASN][1000 genomes]
rs900051	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9642922	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978639	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1022972	chr8:95189085-95245392	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv518636	chr8:95196794-95233336	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539678	chr8:95197036-95225644	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1030292	chr8:95198982-95231692	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv522024	chr8:95199215-95232449	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1020665	chr8:95199302-95232062	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95212600-95220600	Weak transcription	Stomach Mucosa	stomach
2	chr8:95215200-95220000	Weak transcription	Small Intestine	intestine
3	chr8:95215800-95220000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:95217200-95219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:95217200-95221400	Active TSS	Duodenum Mucosa	Duodenum
6	chr8:95217600-95220200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:95217800-95218200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:95217800-95218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:95218000-95218200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:95218000-95218200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:95218000-95218200	Flanking Active TSS	Fetal Intestine Large	intestine
12	chr8:95218000-95218200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
13	chr8:95218000-95218200	Enhancers	Pancreas	Pancrea
14	chr8:95218000-95218200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:95218000-95218200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr8:95218000-95218400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:95218000-95220000	Enhancers	A549	lung
18	chr8:95218000-95220200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:95218000-95220800	Active TSS	Colonic Mucosa	Colon
20	chr8:95218000-95220800	Active TSS	Rectal Smooth Muscle	rectum

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