Variant report

Variant	rs72494454
Chromosome Location	chr7:99298314-99298315
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	chr7:99296360..99298503-chr7:99313450..99315683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160870	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10211	0.88[ASN][1000 genomes]
rs10225314	0.92[EUR][1000 genomes]
rs12360	0.88[ASN][1000 genomes]
rs1357319	0.86[ASN][1000 genomes]
rs1403196	0.88[ASN][1000 genomes]
rs1419745	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17161766	0.84[EUR][1000 genomes]
rs17161768	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161769	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161771	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161772	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161774	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17161780	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17161783	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1818797	0.88[ASN][1000 genomes]
rs1851425	0.88[ASN][1000 genomes]
rs1851427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879859	0.86[ASN][1000 genomes]
rs2005548	0.90[ASN][1000 genomes]
rs2037497	0.86[ASN][1000 genomes]
rs2037498	0.86[ASN][1000 genomes]
rs2037499	0.86[ASN][1000 genomes]
rs2090949	0.86[ASN][1000 genomes]
rs2140128	0.86[ASN][1000 genomes]
rs2177180	0.88[ASN][1000 genomes]
rs2222411	0.86[ASN][1000 genomes]
rs2257401	0.88[ASN][1000 genomes]
rs2404769	0.86[ASN][1000 genomes]
rs2404770	0.86[ASN][1000 genomes]
rs2687072	0.86[ASN][1000 genomes]
rs2687075	0.85[ASN][1000 genomes]
rs2687076	0.88[ASN][1000 genomes]
rs2687077	0.88[ASN][1000 genomes]
rs2687078	0.88[ASN][1000 genomes]
rs2687079	0.88[ASN][1000 genomes]
rs2687081	0.88[ASN][1000 genomes]
rs2687084	0.88[ASN][1000 genomes]
rs2687085	0.88[ASN][1000 genomes]
rs2687086	0.86[ASN][1000 genomes]
rs2687087	0.84[ASN][1000 genomes]
rs2687133	0.84[ASN][1000 genomes]
rs2687134	0.84[ASN][1000 genomes]
rs2687135	0.86[ASN][1000 genomes]
rs2687136	0.86[ASN][1000 genomes]
rs2687137	0.86[ASN][1000 genomes]
rs2687139	0.86[ASN][1000 genomes]
rs2687140	0.86[ASN][1000 genomes]
rs2687141	0.86[ASN][1000 genomes]
rs2687142	0.86[ASN][1000 genomes]
rs2687143	0.86[ASN][1000 genomes]
rs2687144	0.86[ASN][1000 genomes]
rs2687145	0.86[ASN][1000 genomes]
rs2740558	0.86[ASN][1000 genomes]
rs2740559	0.86[ASN][1000 genomes]
rs2740560	0.86[ASN][1000 genomes]
rs2740561	0.86[ASN][1000 genomes]
rs2740562	0.85[ASN][1000 genomes]
rs2740563	0.86[ASN][1000 genomes]
rs2740565	0.86[ASN][1000 genomes]
rs2741872	0.84[ASN][1000 genomes]
rs2948343	0.88[ASN][1000 genomes]
rs2948344	0.88[ASN][1000 genomes]
rs3800960	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3823812	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41301658	0.86[AFR][1000 genomes]
rs45442295	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45460091	0.95[AFR][1000 genomes]
rs45540134	0.92[EUR][1000 genomes]
rs45600842	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45624139	0.86[ASN][1000 genomes]
rs4646440	0.95[AFR][1000 genomes]
rs4646446	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4646447	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646449	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646453	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646456	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646458	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646461	0.84[ASN][1000 genomes]
rs4646462	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4646465	0.88[ASN][1000 genomes]
rs55852703	0.86[ASN][1000 genomes]
rs58024720	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58222677	0.92[EUR][1000 genomes]
rs58649180	0.84[ASN][1000 genomes]
rs59172435	0.96[ASN][1000 genomes]
rs60298785	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60865030	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61159815	0.92[EUR][1000 genomes]
rs61337492	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61402640	0.92[EUR][1000 genomes]
rs61543997	0.92[EUR][1000 genomes]
rs61593387	0.96[ASN][1000 genomes]
rs72494451	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72494452	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72494453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72494455	0.84[ASN][1000 genomes]
rs72494456	0.96[ASN][1000 genomes]
rs72494458	0.93[AFR][1000 genomes]
rs73410654	0.86[ASN][1000 genomes]
rs776741	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776742	0.86[ASN][1000 genomes]
rs776744	0.86[ASN][1000 genomes]
rs776745	0.86[ASN][1000 genomes]
rs7798931	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8175345	0.84[AFR][1000 genomes]
rs8175346	0.82[EUR][1000 genomes]
rs939955	0.96[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	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
3	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
4	esv3378448	chr7:99295540-99331065	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99291400-99298800	Weak transcription	Aorta	Aorta
2	chr7:99291400-99306600	Weak transcription	Left Ventricle	heart
3	chr7:99292400-99298600	Enhancers	HepG2	liver
4	chr7:99294200-99301600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:99294400-99301400	Weak transcription	Liver	Liver
6	chr7:99297400-99298400	Enhancers	Stomach Mucosa	stomach
7	chr7:99297400-99303800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:99297600-99298400	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:99297600-99299400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:99297800-99301400	Weak transcription	Fetal Intestine Small	intestine
11	chr7:99297800-99316200	Weak transcription	Gastric	stomach
12	chr7:99297800-99317400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:99298000-99311600	Weak transcription	Pancreas	Pancrea
14	chr7:99298200-99303600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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