Variant report

Variant	rs72494458
Chromosome Location	chr7:99350302-99350303
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	chr7:99348892..99351554-chr7:99353145..99355344,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12333983	0.85[ASN][1000 genomes]
rs12536946	0.87[ASN][1000 genomes]
rs17161771	0.87[AFR][1000 genomes]
rs17161772	0.89[AFR][1000 genomes]
rs17161774	0.91[AFR][1000 genomes]
rs17161783	0.91[AFR][1000 genomes]
rs17161880	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1851427	0.93[AFR][1000 genomes]
rs2005548	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2404955	0.85[ASN][1000 genomes]
rs34880695	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35909867	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35974388	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35984428	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3735451	0.85[ASN][1000 genomes]
rs3991809	0.85[ASN][1000 genomes]
rs41301658	0.84[AFR][1000 genomes]
rs45460091	0.93[AFR][1000 genomes]
rs4646440	0.93[AFR][1000 genomes]
rs4646446	0.89[AFR][1000 genomes]
rs4646447	0.89[AFR][1000 genomes]
rs4646449	0.89[AFR][1000 genomes]
rs4646456	0.83[AFR][1000 genomes]
rs4646462	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59172435	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59836234	0.85[ASN][1000 genomes]
rs60153739	0.86[ASN][1000 genomes]
rs60298785	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60865030	0.93[AFR][1000 genomes]
rs61337492	0.91[AFR][1000 genomes]
rs61593387	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6945984	0.86[ASN][1000 genomes]
rs6955424	0.81[ASN][1000 genomes]
rs72494454	0.93[AFR][1000 genomes]
rs72494456	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8175345	0.82[AFR][1000 genomes]
rs939955	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv888771	chr7:99294762-99355278	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv3331003	chr7:99337054-99386069	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3450108	chr7:99339737-99383419	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv981555	chr7:99346675-99355848	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	1 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	chr7:99339200-99352200	Weak transcription	Left Ventricle	heart
2	chr7:99346400-99350400	Enhancers	HMEC	breast
3	chr7:99346600-99350400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:99347800-99350400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99348000-99350800	Enhancers	Fetal Intestine Small	intestine
6	chr7:99348000-99351000	Enhancers	Fetal Intestine Large	intestine
7	chr7:99348000-99351000	Enhancers	Stomach Mucosa	stomach
8	chr7:99348200-99351000	Enhancers	HepG2	liver
9	chr7:99348400-99350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:99349000-99350400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:99349000-99350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:99349600-99350400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:99349600-99350400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:99349600-99350800	Enhancers	Esophagus	oesophagus
15	chr7:99349600-99350800	Enhancers	Fetal Lung	lung
16	chr7:99349600-99350800	Enhancers	Pancreas	Pancrea
17	chr7:99349800-99350400	Weak transcription	Brain Germinal Matrix	brain
18	chr7:99350000-99350400	Enhancers	A549	lung
19	chr7:99350000-99351000	Enhancers	Lung	lung
20	chr7:99350000-99355400	Weak transcription	Liver	Liver
21	chr7:99350200-99350600	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:99350200-99350800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:99350200-99350800	Enhancers	Hela-S3	cervix

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