Variant report

Variant	rs6847105
Chromosome Location	chr4:124694461-124694462
allele	A/C/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	RAD21	chr4:124693867-124694485	ECC-1	luminal epithelium:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
2	CTCF	chr4:124693841-124694506	A549	lung:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
3	CTCF	chr4:124693893-124694468	MCF-7	breast:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
4	RAD21	chr4:124693880-124694466	H1-hESC	embryonic stem cell:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
5	RAD21	chr4:124693887-124694468	MCF-7	breast:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
6	RAD21	chr4:124693853-124694500	HCT-116	colon:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
7	RAD21	chr4:124693821-124694557	SK-N-SH	brain:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
8	RAD21	chr4:124693818-124694482	HepG2	liver:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
9	RAD21	chr4:124693829-124694487	HCT-116	colon:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
10	CTCF	chr4:124693857-124694507	HCT-116	colon:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177

No.	Distal block	Cell Line	Cell type
1	chr4:124693787..124694688-chr4:125032781..125033558,3	MCF-7	breast:
2	chr4:124693711..124694660-chr4:124911167..124912152,7	MCF-7	breast:
3	chr4:124688857..124690611-chr4:124692312..124695187,2	K562	blood:
4	chr4:124693744..124694615-chr4:125242649..125243563,2	MCF-7	breast:

Variant related genes	Relation type
LINC01091	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1025505	0.83[EUR][1000 genomes]
rs12646015	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13103593	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13143652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346055	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1364871	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1433215	0.83[EUR][1000 genomes]
rs1836039	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2011356	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2113978	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2390585	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3113384	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113387	0.83[EUR][1000 genomes]
rs34307635	0.85[ASN][1000 genomes]
rs3860075	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4336238	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4833936	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4833951	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6830973	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7660169	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7673904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7682624	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs979755	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124687000-124704600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:124689600-124698200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:124689600-124698200	Weak transcription	Aorta	Aorta
4	chr4:124694200-124697600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:124694200-124707800	Weak transcription	Pancreas	Pancrea

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