Variant report

Variant	rs72494453
Chromosome Location	chr7:99293358-99293359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99277038..99279946-chr7:99291489..99293393,2	K562	blood:

Variant related genes	Relation type
ENSG00000106258	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10211	0.86[ASN][1000 genomes]
rs10225314	0.92[EUR][1000 genomes]
rs12360	0.86[ASN][1000 genomes]
rs1357319	0.84[ASN][1000 genomes]
rs1403196	0.86[ASN][1000 genomes]
rs1419745	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17161766	0.84[EUR][1000 genomes]
rs17161768	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161769	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161771	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161772	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161774	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161780	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17161783	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1818797	0.86[ASN][1000 genomes]
rs1851425	0.86[ASN][1000 genomes]
rs1851427	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1879859	0.88[ASN][1000 genomes]
rs2005548	0.88[ASN][1000 genomes]
rs2037497	0.84[ASN][1000 genomes]
rs2037498	0.84[ASN][1000 genomes]
rs2037499	0.84[ASN][1000 genomes]
rs2090949	0.84[ASN][1000 genomes]
rs2140128	0.84[ASN][1000 genomes]
rs2177180	0.86[ASN][1000 genomes]
rs2222411	0.84[ASN][1000 genomes]
rs2257401	0.86[ASN][1000 genomes]
rs2404769	0.84[ASN][1000 genomes]
rs2404770	0.84[ASN][1000 genomes]
rs2687072	0.84[ASN][1000 genomes]
rs2687075	0.84[ASN][1000 genomes]
rs2687076	0.86[ASN][1000 genomes]
rs2687077	0.86[ASN][1000 genomes]
rs2687078	0.86[ASN][1000 genomes]
rs2687079	0.86[ASN][1000 genomes]
rs2687081	0.86[ASN][1000 genomes]
rs2687084	0.86[ASN][1000 genomes]
rs2687085	0.86[ASN][1000 genomes]
rs2687086	0.88[ASN][1000 genomes]
rs2687087	0.86[ASN][1000 genomes]
rs2687133	0.83[ASN][1000 genomes]
rs2687134	0.83[ASN][1000 genomes]
rs2687135	0.84[ASN][1000 genomes]
rs2687136	0.84[ASN][1000 genomes]
rs2687137	0.84[ASN][1000 genomes]
rs2687139	0.84[ASN][1000 genomes]
rs2687140	0.84[ASN][1000 genomes]
rs2687141	0.84[ASN][1000 genomes]
rs2687142	0.84[ASN][1000 genomes]
rs2687143	0.84[ASN][1000 genomes]
rs2687144	0.84[ASN][1000 genomes]
rs2687145	0.84[ASN][1000 genomes]
rs2740558	0.84[ASN][1000 genomes]
rs2740559	0.84[ASN][1000 genomes]
rs2740560	0.84[ASN][1000 genomes]
rs2740561	0.84[ASN][1000 genomes]
rs2740562	0.84[ASN][1000 genomes]
rs2740563	0.84[ASN][1000 genomes]
rs2740565	0.88[ASN][1000 genomes]
rs2741872	0.83[ASN][1000 genomes]
rs2948343	0.86[ASN][1000 genomes]
rs2948344	0.86[ASN][1000 genomes]
rs3800960	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3823812	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45442295	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45540134	0.92[EUR][1000 genomes]
rs45600842	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45624139	0.84[ASN][1000 genomes]
rs4646446	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646447	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646449	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646453	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646456	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4646458	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4646461	0.83[ASN][1000 genomes]
rs4646462	0.95[ASN][1000 genomes]
rs4646465	0.86[ASN][1000 genomes]
rs55852703	0.84[ASN][1000 genomes]
rs58024720	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58222677	0.92[EUR][1000 genomes]
rs58649180	0.83[ASN][1000 genomes]
rs59172435	0.95[ASN][1000 genomes]
rs60298785	0.95[ASN][1000 genomes]
rs60865030	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61159815	0.92[EUR][1000 genomes]
rs61337492	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61402640	0.92[EUR][1000 genomes]
rs61543997	0.92[EUR][1000 genomes]
rs61593387	0.95[ASN][1000 genomes]
rs72494451	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72494452	0.92[EUR][1000 genomes]
rs72494454	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72494455	0.83[ASN][1000 genomes]
rs72494456	0.95[ASN][1000 genomes]
rs73410654	0.84[ASN][1000 genomes]
rs776741	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776742	0.88[ASN][1000 genomes]
rs776744	0.88[ASN][1000 genomes]
rs776745	0.88[ASN][1000 genomes]
rs776746	0.81[ASN][1000 genomes]
rs7798931	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8175346	0.82[EUR][1000 genomes]
rs939955	0.95[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	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	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:99277000-99295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:99290600-99293600	Enhancers	Fetal Intestine Small	intestine
3	chr7:99291400-99297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:99291400-99297600	Weak transcription	Esophagus	oesophagus
5	chr7:99291400-99298800	Weak transcription	Aorta	Aorta
6	chr7:99291400-99306600	Weak transcription	Left Ventricle	heart
7	chr7:99291600-99294600	Weak transcription	Fetal Thymus	thymus
8	chr7:99291600-99295600	Weak transcription	Pancreas	Pancrea
9	chr7:99292200-99294600	Enhancers	K562	blood
10	chr7:99292200-99296200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:99292200-99296200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:99292200-99297000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:99292400-99295800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:99292400-99295800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:99292400-99295800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:99292400-99295800	Weak transcription	Stomach Mucosa	stomach
17	chr7:99292400-99296000	Weak transcription	A549	lung
18	chr7:99292400-99296400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:99292400-99298600	Enhancers	HepG2	liver
20	chr7:99292800-99294400	Enhancers	Liver	Liver
21	chr7:99293000-99293600	Enhancers	Gastric	stomach
22	chr7:99293200-99293400	Enhancers	Fetal Lung	lung
23	chr7:99293200-99295600	Weak transcription	Fetal Intestine Large	intestine

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