Variant report

Variant	rs12540274
Chromosome Location	chr7:110584812-110584813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1008413	0.85[EUR][1000 genomes]
rs10225614	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10246351	0.85[EUR][1000 genomes]
rs10260255	0.85[EUR][1000 genomes]
rs10464508	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10464637	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs115826	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12534893	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12535802	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12540013	0.95[EUR][1000 genomes]
rs12672824	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs166308	0.96[EUR][1000 genomes]
rs174074	0.95[EUR][1000 genomes]
rs17438711	0.94[EUR][1000 genomes]
rs17527832	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17528429	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17528930	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2041531	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2109863	0.83[EUR][1000 genomes]
rs2191926	0.95[EUR][1000 genomes]
rs2396300	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs258989	0.94[EUR][1000 genomes]
rs258990	0.95[EUR][1000 genomes]
rs258991	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs258997	0.96[EUR][1000 genomes]
rs258998	0.84[EUR][1000 genomes]
rs258999	0.96[EUR][1000 genomes]
rs259000	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs259002	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs259003	0.97[EUR][1000 genomes]
rs259004	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs259006	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259008	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs259009	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs259011	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs259013	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs259014	0.83[EUR][1000 genomes]
rs259015	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259017	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259018	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs259020	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259021	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259022	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4141112	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4727753	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4730467	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4730468	0.84[EUR][1000 genomes]
rs4730470	0.84[EUR][1000 genomes]
rs4730472	0.84[EUR][1000 genomes]
rs55693011	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56148096	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56160040	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56277540	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56379568	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56907799	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57238777	0.93[EUR][1000 genomes]
rs58495202	0.94[EUR][1000 genomes]
rs58585976	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59086405	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60581416	0.97[EUR][1000 genomes]
rs60807734	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6466365	0.82[EUR][1000 genomes]
rs6466366	0.82[EUR][1000 genomes]
rs6466368	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6466370	0.94[EUR][1000 genomes]
rs66596422	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67679818	0.94[EUR][1000 genomes]
rs67759016	0.99[EUR][1000 genomes]
rs67798998	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6955060	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6960818	0.95[EUR][1000 genomes]
rs6972608	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6978507	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs725272	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73435146	0.94[EUR][1000 genomes]
rs758952	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs758954	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7782551	0.84[EUR][1000 genomes]
rs7795011	0.83[EUR][1000 genomes]
rs7796806	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs876396	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs917763	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9690080	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023596	chr7:109984459-110708071	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539061	chr7:109984459-110708071	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv608147	chr7:110292046-110617845	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv888972	chr7:110470629-110635497	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv888973	chr7:110509579-110699652	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv888974	chr7:110516659-110660055	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12540274	IMMP2L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110561800-110588800	Weak transcription	Left Ventricle	heart
2	chr7:110567600-110614400	Weak transcription	Psoas Muscle	Psoas
3	chr7:110583000-110585600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:110583200-110586400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:110583400-110585600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:110583400-110586400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:110583400-110586400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:110583600-110585400	Weak transcription	K562	blood
9	chr7:110583800-110586400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:110584000-110585200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:110584400-110585600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:110584400-110586200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:110584400-110586200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:110584400-110586400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:110584600-110585000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:110584600-110585000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:110584600-110585200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:110584600-110585200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:110584600-110585400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:110584600-110586400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:110584800-110587200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:110584800-110587600	Weak transcription	Fetal Heart	heart

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