Variant report

Variant	rs56408688
Chromosome Location	chr7:26443991-26443992
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:26442923..26445424-chr7:26451038..26453876,2	MCF-7	breast:
2	chr7:26443364..26446352-chr7:26455253..26457361,2	K562	blood:
3	chr7:26442296..26445236-chr7:26449930..26452832,2	K562	blood:
4	chr7:26437420..26440543-chr7:26442123..26444507,3	K562	blood:
5	chr7:26437420..26440543-chr7:26442123..26446484,5	K562	blood:
6	chr7:26438613..26440865-chr7:26441029..26444147,3	MCF-7	breast:
7	chr7:26441047..26444822-chr7:26444886..26448664,4	K562	blood:
8	chr7:26443322..26445785-chr7:26447164..26448795,2	K562	blood:
9	chr7:26437280..26438848-chr7:26443790..26446572,2	MCF-7	breast:
10	chr7:26442296..26446078-chr7:26448777..26452832,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214870	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1229670	0.92[ASN][1000 genomes]
rs12532670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2269895	0.85[ASN][1000 genomes]
rs60435285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72591544	1.00[EUR][1000 genomes]
rs72591547	1.00[EUR][1000 genomes]
rs73685206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs976346	0.81[ASN][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	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26439000-26452200	Weak transcription	Ovary	ovary
2	chr7:26439000-26452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:26439000-26453000	Weak transcription	Lung	lung
4	chr7:26439200-26444000	Weak transcription	Liver	Liver
5	chr7:26439200-26444200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:26439800-26453000	Weak transcription	Pancreas	Pancrea
7	chr7:26440000-26444200	Weak transcription	Fetal Brain Female	brain
8	chr7:26440000-26444400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:26440000-26444600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:26440000-26445200	Weak transcription	Fetal Stomach	stomach
11	chr7:26440800-26446000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:26440800-26460200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:26443200-26444400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:26443200-26445400	Enhancers	K562	blood
15	chr7:26443200-26446000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:26443400-26444000	Enhancers	HepG2	liver
17	chr7:26443400-26444200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:26443400-26444400	Strong transcription	Fetal Lung	lung
19	chr7:26443400-26444600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:26443600-26444600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:26443800-26444200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:26443800-26444400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:26443800-26444400	Enhancers	A549	lung

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