Variant report

Variant	rs12203468
Chromosome Location	chr6:55994518-55994519
allele	C/G
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	USF1	chr6:55994347-55994530	SK-N-SH_RA	brain:	n/a	n/a
2	BHLHE40	chr6:55994353-55994624	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
COL21A1	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10456726	0.81[EUR][1000 genomes]
rs10484704	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10807510	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10948974	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10948975	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12154066	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12190671	0.82[ASN][1000 genomes]
rs12190930	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12191931	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12192012	0.82[ASN][1000 genomes]
rs12193911	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12194051	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12194997	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12195340	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12196050	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12198637	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12200525	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12200667	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12201373	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12201485	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12201514	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203179	0.84[EUR][1000 genomes]
rs12203286	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203653	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12203768	0.82[ASN][1000 genomes]
rs12203922	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203966	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12204069	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12205230	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12205653	0.82[ASN][1000 genomes]
rs12205903	0.82[ASN][1000 genomes]
rs12206920	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12207611	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12207665	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12208823	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12209003	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12209120	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12209185	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12209464	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12209509	0.82[ASN][1000 genomes]
rs12210228	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12210901	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12211223	0.80[ASN][1000 genomes]
rs12212032	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12212135	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12212143	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12212211	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12214519	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12214559	0.82[ASN][1000 genomes]
rs12214594	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12214662	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12214918	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12215027	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12215913	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12216314	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1555095	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1555096	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17219028	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17219063	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17219126	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17219382	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17818561	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17818687	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1925169	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1925171	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1925172	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1925173	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1925178	0.82[ASN][1000 genomes]
rs2076474	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2076475	0.84[ASN][1000 genomes]
rs2143359	0.82[ASN][1000 genomes]
rs2840992	0.80[ASN][1000 genomes]
rs2876629	0.82[ASN][1000 genomes]
rs28844387	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34910254	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3857610	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41271844	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41464152	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4295483	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60739862	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62404893	0.82[ASN][1000 genomes]
rs62404894	0.82[ASN][1000 genomes]
rs62404895	0.82[ASN][1000 genomes]
rs62404896	0.82[ASN][1000 genomes]
rs62404897	0.82[ASN][1000 genomes]
rs62404898	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62404900	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62411452	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62411453	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62411455	0.82[ASN][1000 genomes]
rs62411456	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62411457	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62411458	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62412799	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62412800	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62412801	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62412803	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412804	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62412805	0.82[AMR][1000 genomes]
rs62412806	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412807	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412808	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412809	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412810	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412811	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412812	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62412813	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412814	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412815	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412818	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412819	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412820	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412821	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62412822	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413462	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413465	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413467	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413469	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413470	0.86[ASN][1000 genomes]
rs62413471	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62413472	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413473	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413476	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62413477	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62413478	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413479	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413547	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7454056	0.85[EUR][1000 genomes];0.83[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	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv526703	chr6:55810482-56023811	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2427713	chr6:55994499-55994753	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55920600-56018400	Weak transcription	Ovary	ovary
2	chr6:55967800-56008600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:55979200-55998400	Weak transcription	Aorta	Aorta
4	chr6:55979200-55998400	Weak transcription	Fetal Stomach	stomach
5	chr6:55984000-56037000	Weak transcription	Fetal Kidney	kidney
6	chr6:55990400-56000800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:55993400-55998400	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:55993600-55998400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:55993800-55994600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:55994200-55994600	Enhancers	Fetal Heart	heart
11	chr6:55994400-55998800	Weak transcription	Fetal Lung	lung

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