Variant report

Variant	rs12706780
Chromosome Location	chr7:126985682-126985683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:126985126-126985755	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:126985052-127000124	K562	blood:	n/a	n/a
3	POLR2A	chr7:126985342-126987332	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126983343..126987079-chr7:126991252..126994803,3	K562	blood:
2	chr7:126985529..126987852-chr7:126995561..126998469,2	K562	blood:
3	chr7:126985391..126987885-chr7:127220985..127222536,2	MCF-7	breast:
4	chr7:126979918..126982217-chr7:126984570..126987487,3	K562	blood:
5	chr7:126985498..126988348-chr7:127020185..127023787,5	K562	blood:
6	chr7:126977128..126979944-chr7:126984146..126986183,2	K562	blood:
7	chr7:126975549..126977117-chr7:126985194..126987625,2	MCF-7	breast:
8	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224138	TF binding region
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10487480	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10954149	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11563346	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11563460	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563467	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563624	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563628	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563629	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563630	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11563634	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11563641	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563648	0.97[ASN][1000 genomes]
rs11563650	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11563652	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12672573	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12706783	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12706784	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12706785	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13228039	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233168	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246300	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419398	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1419399	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419414	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862368	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17862369	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17863291	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17863295	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863297	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17864195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17865345	0.90[ASN][1000 genomes]
rs17867824	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17867840	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17867842	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040500	1.00[ASN][1000 genomes]
rs2402860	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3944151	0.97[ASN][1000 genomes]
rs4731350	1.00[ASN][1000 genomes]
rs6972420	1.00[ASN][1000 genomes]
rs71578227	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781891	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796747	0.93[EUR][1000 genomes]
rs7805194	1.00[ASN][1000 genomes]
rs7805256	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	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126982000-126987000	Weak transcription	HSMM	muscle
2	chr7:126984400-126987600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
4	chr7:126984600-126987600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:126984800-126987600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:126984800-126987600	Weak transcription	K562	blood
7	chr7:126985600-126987600	Weak transcription	Thymus	Thymus

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