Variant report

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:150247159-150247892	HCT-116	colon:	n/a	n/a
2	RAD21	chr6:150247144-150247931	HCT-116	colon:	n/a	n/a
3	CTCF	chr6:150247166-150247952	SK-N-SH	brain:	n/a	n/a
4	MAZ	chr6:150246587-150248252	IMR90	lung:	n/a	n/a
5	CTCF	chr6:150247094-150248180	A549	lung:	n/a	chr6:150247128-150247135
6	JUN	chr6:150246987-150247928	K562	blood:	n/a	n/a
7	CTCF	chr6:150247760-150247910	GM12872	blood:	n/a	n/a
8	RAD21	chr6:150247023-150247974	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr6:150247860-150248010	GM12873	blood:	n/a	n/a
10	CTCF	chr6:150247109-150247919	HCT-116	colon:	n/a	chr6:150247128-150247135
11	SMC3	chr6:150246966-150247914	SK-N-SH	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150155818..150157641-chr6:150245238..150247988,3	MCF-7	breast:
2	chr6:149867194..149867778-chr6:150247038..150247929,2	MCF-7	breast:
3	chr6:150239646..150241708-chr6:150246246..150248253,2	K562	blood:
4	chr6:150155341..150156327-chr6:150247051..150248024,4	K562	blood:
5	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
6	chr6:150044112..150046636-chr6:150245149..150247881,2	MCF-7	breast:
7	chr6:150155297..150157506-chr6:150246299..150249094,2	K562	blood:
8	chr6:150154902..150156132-chr6:150246873..150248035,8	MCF-7	breast:
9	chr6:150246157..150249113-chr6:150336737..150339289,2	K562	blood:
10	chr6:150153805..150156797-chr6:150246692..150249094,2	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12194759	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3922946	0.84[ASN][1000 genomes]
rs3922947	0.83[ASN][1000 genomes]
rs4579366	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4869767	0.83[ASN][1000 genomes]
rs4869768	0.81[ASN][1000 genomes]
rs4870118	0.83[ASN][1000 genomes]
rs5024811	0.83[ASN][1000 genomes]
rs6939283	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6939450	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7382014	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9371228	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv886765	chr6:150198491-150288722	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1817805	chr6:150209592-150268708	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6914185	C6orf72	Cis_1M	lymphoblastoid	RTeQTL
rs6914185	RP11-350J20.5	cis	Skin Sun Exposed Lower leg	GTEx
rs6914185	NUP43	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150246600-150248000	Active TSS	Colon Smooth Muscle	Colon
2	chr6:150246600-150248000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr6:150247400-150248000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr6:150247400-150250400	Weak transcription	Right Atrium	heart
5	chr6:150247600-150248000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
6	chr6:150247600-150248000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:150247600-150248000	Enhancers	Brain Angular Gyrus	brain
8	chr6:150247800-150248000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:150247800-150248000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:150247800-150248000	Enhancers	A549	lung
11	chr6:150247800-150248000	Enhancers	Hela-S3	cervix
12	chr6:150247800-150248000	Flanking Bivalent TSS/Enh	K562	blood
13	chr6:150247800-150248000	Enhancers	NHEK	skin

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