Variant report

Variant	rs72946834
Chromosome Location	chr4:143392219-143392220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:143391327..143393271-chr4:143499581..143501410,2	MCF-7	breast:
2	chr4:143345499..143347923-chr4:143391680..143394549,2	MCF-7	breast:
3	chr4:143389462..143399452-chr4:143428707..143442488,28	MCF-7	breast:
4	chr4:143391120..143394953-chr4:143764140..143771077,8	MCF-7	breast:
5	chr4:143327600..143329351-chr4:143391019..143392587,2	MCF-7	breast:
6	chr20:45986729..45989640-chr4:143391962..143394020,2	MCF-7	breast:
7	chr4:143391421..143397876-chr4:143484529..143495051,12	MCF-7	breast:
8	chr4:143391122..143393717-chr4:143678959..143680972,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249806	Chromatin interaction
ENSG00000109452	Chromatin interaction
ENSG00000251248	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10434184	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11930849	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11947710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58048713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59456427	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946807	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946813	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946835	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946839	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72946853	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946855	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946865	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946870	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946874	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946877	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946889	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946892	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946896	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946898	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946900	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72948704	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72948712	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72948719	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143367000-143392600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143369200-143410600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:143371600-143400800	Weak transcription	Aorta	Aorta
4	chr4:143380400-143394800	Weak transcription	Pancreas	Pancrea
5	chr4:143384600-143394800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:143385200-143394800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:143388600-143395200	Weak transcription	HSMMtube	muscle
8	chr4:143390400-143397000	Weak transcription	Right Atrium	heart
9	chr4:143391000-143392600	Weak transcription	Esophagus	oesophagus

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