Variant report

Variant	rs12593532
Chromosome Location	chr15:83838530-83838531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:83838383-83838604	K562	blood:	n/a	chr15:83838502-83838513
2	CEBPB	chr15:83838413-83838633	HepG2	liver:	n/a	chr15:83838502-83838513
3	CEBPB	chr15:83838425-83838595	IMR90	lung:	n/a	chr15:83838502-83838513

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83834964..83840588-chr15:83874121..83878306,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166503	TF binding region
ENSG00000166503	Chromatin interaction

Extended variants
information (count: 174 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs10520576	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1075619	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1112404	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259903	0.95[ASN][1000 genomes]
rs11259905	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11259906	0.89[ASN][1000 genomes]
rs11259965	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259967	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11259968	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259969	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259970	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852287	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11852408	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852446	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852496	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11853498	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11853742	0.80[ASN][1000 genomes]
rs11853977	0.88[ASN][1000 genomes]
rs11854520	0.89[ASN][1000 genomes]
rs11854888	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855639	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856000	0.94[ASN][1000 genomes]
rs11856164	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11856171	0.94[ASN][1000 genomes]
rs11856806	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857428	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11857641	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857878	0.86[ASN][1000 genomes]
rs11858162	0.84[EUR][1000 genomes]
rs11858377	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11858468	0.82[EUR][1000 genomes]
rs12437558	0.84[EUR][1000 genomes]
rs12437858	0.82[EUR][1000 genomes]
rs12437901	0.84[EUR][1000 genomes]
rs12438398	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12438526	0.83[EUR][1000 genomes]
rs12438575	0.84[EUR][1000 genomes]
rs12438708	0.83[EUR][1000 genomes]
rs12439122	0.85[EUR][1000 genomes]
rs12439903	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440265	0.84[EUR][1000 genomes]
rs12440386	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440562	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441006	0.84[EUR][1000 genomes]
rs12441409	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12441575	0.84[EUR][1000 genomes]
rs12441585	0.97[ASN][1000 genomes]
rs12441847	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12442572	0.95[ASN][1000 genomes]
rs12443109	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443424	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591855	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593638	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594496	0.99[ASN][1000 genomes]
rs12595330	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158080	0.97[ASN][1000 genomes]
rs17361375	0.84[EUR][1000 genomes]
rs17507693	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17507763	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17508610	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17509233	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17567151	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17567869	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568298	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17568459	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880532	0.82[EUR][1000 genomes]
rs1901544	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2034617	0.97[ASN][1000 genomes]
rs2034618	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2167600	0.82[ASN][1000 genomes]
rs28373753	1.00[ASN][1000 genomes]
rs28436027	0.92[ASN][1000 genomes]
rs28538218	0.82[ASN][1000 genomes]
rs28623260	1.00[ASN][1000 genomes]
rs28625676	0.95[ASN][1000 genomes]
rs28678434	0.86[ASN][1000 genomes]
rs28754750	0.97[ASN][1000 genomes]
rs4341707	0.86[ASN][1000 genomes]
rs4386103	0.86[ASN][1000 genomes]
rs4389108	0.86[ASN][1000 genomes]
rs4408505	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4423388	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4480763	0.86[EUR][1000 genomes]
rs4531702	0.86[ASN][1000 genomes]
rs4563011	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572349	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55683536	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55756182	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55878453	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55893521	0.85[EUR][1000 genomes]
rs55905779	0.83[EUR][1000 genomes]
rs55932429	0.83[EUR][1000 genomes]
rs56045305	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56052029	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56352317	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56391827	0.90[ASN][1000 genomes]
rs57219675	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729044	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58006707	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58281154	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58292616	0.99[ASN][1000 genomes]
rs58329615	0.83[ASN][1000 genomes]
rs58847484	0.82[EUR][1000 genomes]
rs59828448	0.81[EUR][1000 genomes]
rs59896565	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60344060	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60819629	0.84[EUR][1000 genomes]
rs60935326	0.96[ASN][1000 genomes]
rs61267530	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61323939	0.90[ASN][1000 genomes]
rs62010162	0.82[EUR][1000 genomes]
rs62010164	0.84[EUR][1000 genomes]
rs62010165	0.84[EUR][1000 genomes]
rs62010166	0.84[EUR][1000 genomes]
rs62010170	0.82[EUR][1000 genomes]
rs62010173	0.84[EUR][1000 genomes]
rs62010174	0.82[EUR][1000 genomes]
rs62010175	0.84[EUR][1000 genomes]
rs62010177	0.82[EUR][1000 genomes]
rs62010212	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62010214	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62010215	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010220	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62010248	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010252	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62010254	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62010255	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62010258	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62011869	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62025914	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62025915	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62025919	0.83[EUR][1000 genomes]
rs62025921	0.83[EUR][1000 genomes]
rs6602970	0.89[ASN][1000 genomes]
rs6603047	0.96[ASN][1000 genomes]
rs66603627	0.82[ASN][1000 genomes]
rs66619192	0.84[EUR][1000 genomes]
rs66757932	0.82[EUR][1000 genomes]
rs66982382	0.82[ASN][1000 genomes]
rs67933024	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7164083	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165114	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165978	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7172590	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7173166	0.89[ASN][1000 genomes]
rs7179675	0.82[EUR][1000 genomes]
rs7180407	0.89[ASN][1000 genomes]
rs7180692	0.85[EUR][1000 genomes]
rs72755992	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73437314	0.99[ASN][1000 genomes]
rs73437324	0.99[ASN][1000 genomes]
rs73437329	0.99[ASN][1000 genomes]
rs73437330	0.99[ASN][1000 genomes]
rs73438913	0.93[ASN][1000 genomes]
rs73438921	0.86[ASN][1000 genomes]
rs73438937	0.88[ASN][1000 genomes]
rs73438941	0.88[ASN][1000 genomes]
rs73438962	0.88[ASN][1000 genomes]
rs73455410	0.96[ASN][1000 genomes]
rs73455413	0.96[ASN][1000 genomes]
rs73455451	0.99[ASN][1000 genomes]
rs7495630	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7495911	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027193	0.95[ASN][1000 genomes]
rs8027577	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8031723	0.84[EUR][1000 genomes]
rs8035810	0.97[ASN][1000 genomes]
rs8037783	0.96[ASN][1000 genomes]
rs8038486	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043224	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs965263	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs965264	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9707895	0.93[AMR][1000 genomes];0.98[EUR][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	nsv534418	chr15:83770116-83960718	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83825800-83847200	Weak transcription	Left Ventricle	heart
2	chr15:83830200-83838600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:83832200-83865600	Weak transcription	HSMM	muscle
4	chr15:83834000-83860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:83834200-83839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:83834200-83842200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:83834200-83846800	Weak transcription	Osteobl	bone
8	chr15:83836000-83840000	Weak transcription	HUVEC	blood vessel
9	chr15:83836000-83847400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:83836000-83870200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:83836200-83845200	Weak transcription	Right Atrium	heart
12	chr15:83836400-83861600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:83837000-83873600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:83837600-83840000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:83838000-83862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:83838200-83840000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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