Variant report

Variant	rs12199138
Chromosome Location	chr6:133468882-133468883
allele	A/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	FOXA2	chr6:133468444-133468965	A549	lung:	n/a	n/a
2	YY1	chr6:133468641-133469387	H1-hESC	embryonic stem cell:	n/a	chr6:133469223-133469235
3	FOXA2	chr6:133468608-133468991	A549	lung:	n/a	n/a

Variant related genes	Relation type
MTCYBP4	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10457002	0.82[EUR][1000 genomes]
rs10457600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154715	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12154207	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12190728	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12191026	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12192002	0.87[EUR][1000 genomes]
rs12192605	0.87[EUR][1000 genomes]
rs12196069	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12196492	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12199555	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12199738	0.87[EUR][1000 genomes]
rs12199958	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12200393	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12205139	0.83[EUR][1000 genomes]
rs12206291	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12210216	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12211999	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12212715	0.82[EUR][1000 genomes]
rs12213350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12213452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12213690	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12215217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1336520	1.00[AFR][1000 genomes]
rs1856291	0.83[EUR][1000 genomes]
rs28405267	1.00[AFR][1000 genomes]
rs28538690	0.81[EUR][1000 genomes]
rs4273707	0.83[EUR][1000 genomes]
rs4273708	0.83[EUR][1000 genomes]
rs5025271	1.00[AFR][1000 genomes]
rs57161827	0.87[EUR][1000 genomes]
rs58835706	0.82[EUR][1000 genomes]
rs59793266	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62428563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62428596	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62428597	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62428664	1.00[AFR][1000 genomes]
rs62428665	1.00[AFR][1000 genomes]
rs62428666	1.00[AFR][1000 genomes]
rs62428668	1.00[AFR][1000 genomes]
rs62428724	1.00[AFR][1000 genomes]
rs62428725	1.00[AFR][1000 genomes]
rs62428726	1.00[AFR][1000 genomes]
rs62430313	1.00[AFR][1000 genomes]
rs62430315	1.00[AFR][1000 genomes]
rs62430317	1.00[AFR][1000 genomes]
rs62430318	1.00[AFR][1000 genomes]
rs62430319	1.00[AFR][1000 genomes]
rs62430582	0.82[EUR][1000 genomes]
rs62430588	0.83[EUR][1000 genomes]
rs62430590	0.83[EUR][1000 genomes]
rs62431677	1.00[AFR][1000 genomes]
rs62431680	1.00[AFR][1000 genomes]
rs62431681	1.00[AFR][1000 genomes]
rs6902225	0.90[EUR][1000 genomes]
rs6911954	0.82[EUR][1000 genomes]
rs6913444	0.96[EUR][1000 genomes]
rs6927627	0.83[EUR][1000 genomes]
rs6935070	0.83[EUR][1000 genomes]
rs6935480	0.83[EUR][1000 genomes]
rs6936410	0.83[EUR][1000 genomes]
rs6937029	0.82[EUR][1000 genomes]
rs6940959	0.83[EUR][1000 genomes]
rs72557636	0.84[EUR][1000 genomes]
rs7738156	0.83[EUR][1000 genomes]
rs7738592	0.86[EUR][1000 genomes]
rs7746390	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7748926	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7749533	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7750218	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750279	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750376	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754486	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756963	0.96[EUR][1000 genomes]
rs7761372	0.87[EUR][1000 genomes]
rs7766470	0.87[EUR][1000 genomes]
rs7767378	0.85[EUR][1000 genomes]
rs7767651	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7770031	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773069	0.88[EUR][1000 genomes]
rs9373043	1.00[AFR][1000 genomes]
rs9375955	1.00[AFR][1000 genomes]
rs9389066	1.00[AFR][1000 genomes]
rs9399055	1.00[AFR][1000 genomes]
rs9399057	1.00[AFR][1000 genomes]
rs9483529	0.83[EUR][1000 genomes]
rs9483530	0.83[EUR][1000 genomes]
rs9483554	0.94[EUR][1000 genomes]
rs9483557	0.88[EUR][1000 genomes]
rs9493513	0.80[EUR][1000 genomes]
rs9493515	0.83[EUR][1000 genomes]
rs9493517	0.83[EUR][1000 genomes]
rs9493518	0.83[EUR][1000 genomes]
rs9493540	0.84[EUR][1000 genomes]
rs9493544	0.85[EUR][1000 genomes]
rs957183	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428154	chr6:133271975-133522803	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv519475	chr6:133350936-133474673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv886677	chr6:133454738-133515602	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133468800-133469000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:133468800-133469200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr6:133468800-133469200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:133468800-133469200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:133468800-133469600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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