Variant report

Variant	rs72754412
Chromosome Location	chr9:95241183-95241184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95239945..95242364-chr9:95245740..95247306,2	MCF-7	breast:
2	chr9:95236896..95239827-chr9:95240100..95242335,3	K562	blood:
3	chr9:95240551..95242589-chr9:95243373..95245598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106819	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17592026	1.00[AMR][1000 genomes]
rs3736836	1.00[AMR][1000 genomes]
rs3758231	1.00[AMR][1000 genomes]
rs41278699	1.00[AMR][1000 genomes]
rs61742574	1.00[AMR][1000 genomes]
rs72750460	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72750477	1.00[AMR][1000 genomes]
rs72750485	1.00[AMR][1000 genomes]
rs72750499	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72754433	0.93[ASN][1000 genomes]
rs72754435	0.93[ASN][1000 genomes]
rs72754493	0.81[ASN][1000 genomes]
rs72756403	0.93[ASN][1000 genomes]
rs72756424	0.87[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	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1049599	chr9:95170139-95265558	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95219000-95241600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:95220200-95242400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:95227000-95241200	Weak transcription	Ovary	ovary
4	chr9:95230600-95242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:95230800-95243400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:95231000-95241200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:95231800-95268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:95232200-95241200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:95232200-95242600	Weak transcription	K562	blood
10	chr9:95235400-95251600	Weak transcription	Psoas Muscle	Psoas
11	chr9:95236400-95241600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:95238600-95241200	Weak transcription	Right Atrium	heart
13	chr9:95239000-95241200	Enhancers	Rectal Smooth Muscle	rectum
14	chr9:95239600-95241200	Weak transcription	Esophagus	oesophagus
15	chr9:95239600-95242000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:95240000-95241200	Weak transcription	Fetal Heart	heart
17	chr9:95240000-95243200	Weak transcription	GM12878-XiMat	blood
18	chr9:95240200-95241200	Enhancers	Stomach Smooth Muscle	stomach
19	chr9:95240400-95242800	Enhancers	Fetal Stomach	stomach
20	chr9:95240600-95242600	Enhancers	Colon Smooth Muscle	Colon
21	chr9:95240800-95241200	Enhancers	Fetal Muscle Leg	muscle
22	chr9:95240800-95241200	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr9:95240800-95241600	Enhancers	Aorta	Aorta
24	chr9:95240800-95242800	Enhancers	Left Ventricle	heart

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