Variant report

Variant	rs72677867
Chromosome Location	chr4:129315081-129315082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129309240..129311697-chr4:129314341..129316608,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12499030	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511843	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648490	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013269	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133465	0.82[ASN][1000 genomes]
rs4305531	0.85[ASN][1000 genomes]
rs4306967	0.85[ASN][1000 genomes]
rs56212199	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58020409	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59296747	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59363695	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72677873	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677874	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677876	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677877	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677891	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72677893	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72677894	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72677896	0.85[ASN][1000 genomes]
rs72677900	0.82[ASN][1000 genomes]
rs7691529	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129308200-129317000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:129310200-129316000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:129311000-129315200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:129311400-129316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:129312000-129315400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:129313800-129315200	Enhancers	NHDF-Ad	bronchial
7	chr4:129314000-129315200	Enhancers	Colon Smooth Muscle	Colon
8	chr4:129314000-129315200	Enhancers	Stomach Mucosa	stomach
9	chr4:129314000-129315400	Enhancers	Hela-S3	cervix
10	chr4:129314000-129317000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:129314000-129317200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:129314600-129315200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:129314800-129315800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:129314800-129315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:129314800-129315800	Weak transcription	NHEK	skin
16	chr4:129314800-129316000	Enhancers	Fetal Heart	heart
17	chr4:129314800-129316000	Weak transcription	HSMM	muscle
18	chr4:129314800-129316000	Weak transcription	NHLF	lung
19	chr4:129314800-129316400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:129315000-129315400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:129315000-129316000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:129315000-129316000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:129315000-129316000	Weak transcription	HSMMtube	muscle
24	chr4:129315000-129316000	Weak transcription	K562	blood
25	chr4:129315000-129316000	Weak transcription	Osteobl	bone
26	chr4:129315000-129316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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