Variant report

Variant	rs73338377
Chromosome Location	chr12:56456136-56456137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56453956..56456454-chr12:56472074..56474729,2	K562	blood:
2	chr12:56451618..56456572-chr12:56471956..56474542,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065361	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1045435	1.00[ASN][1000 genomes]
rs1066130	1.00[EUR][1000 genomes]
rs1068188	1.00[EUR][1000 genomes]
rs1068189	1.00[EUR][1000 genomes]
rs10783777	1.00[ASN][1000 genomes]
rs10783778	1.00[ASN][1000 genomes]
rs10876867	1.00[ASN][1000 genomes]
rs1088050	1.00[EUR][1000 genomes]
rs1091527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11550558	1.00[ASN][1000 genomes]
rs11833164	1.00[EUR][1000 genomes]
rs11834873	1.00[EUR][1000 genomes]
rs11835018	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11835310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11837183	1.00[AMR][1000 genomes]
rs1614219	1.00[ASN][1000 genomes]
rs1626158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681071	1.00[EUR][1000 genomes]
rs1681079	1.00[EUR][1000 genomes]
rs1681080	1.00[EUR][1000 genomes]
rs1681088	1.00[EUR][1000 genomes]
rs1689508	1.00[EUR][1000 genomes]
rs1689509	1.00[EUR][1000 genomes]
rs1689511	1.00[ASN][1000 genomes]
rs1689517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689518	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1701701	1.00[EUR][1000 genomes]
rs1701702	1.00[EUR][1000 genomes]
rs1702872	1.00[EUR][1000 genomes]
rs17118461	1.00[EUR][1000 genomes]
rs1918496	1.00[EUR][1000 genomes]
rs2035948	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2271193	1.00[ASN][1000 genomes]
rs2271195	1.00[ASN][1000 genomes]
rs2277340	1.00[ASN][1000 genomes]
rs2456972	1.00[ASN][1000 genomes]
rs2625137	1.00[EUR][1000 genomes]
rs2625146	1.00[EUR][1000 genomes]
rs2629445	1.00[EUR][1000 genomes]
rs2640566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640568	1.00[EUR][1000 genomes]
rs2658478	1.00[EUR][1000 genomes]
rs2658479	1.00[ASN][1000 genomes]
rs2661728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934152	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34323718	1.00[EUR][1000 genomes]
rs4417324	1.00[EUR][1000 genomes]
rs56696262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57237559	1.00[EUR][1000 genomes]
rs57785224	1.00[EUR][1000 genomes]
rs57990974	1.00[EUR][1000 genomes]
rs58349500	1.00[EUR][1000 genomes]
rs59794023	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60740107	1.00[AMR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs705697	1.00[EUR][1000 genomes]
rs705710	1.00[EUR][1000 genomes]
rs705712	1.00[EUR][1000 genomes]
rs705713	1.00[EUR][1000 genomes]
rs705714	1.00[EUR][1000 genomes]
rs705716	1.00[EUR][1000 genomes]
rs7298109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305481	1.00[AMR][1000 genomes]
rs7309327	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338396	0.87[ASN][1000 genomes]
rs772459	1.00[EUR][1000 genomes]
rs772463	1.00[EUR][1000 genomes]
rs772464	1.00[EUR][1000 genomes]
rs772470	1.00[EUR][1000 genomes]
rs772474	1.00[EUR][1000 genomes]
rs772697	1.00[EUR][1000 genomes]
rs772698	1.00[EUR][1000 genomes]
rs772699	1.00[EUR][1000 genomes]
rs772701	1.00[EUR][1000 genomes]
rs772705	1.00[EUR][1000 genomes]
rs772922	1.00[ASN][1000 genomes]
rs773115	1.00[ASN][1000 genomes]
rs7954155	1.00[EUR][1000 genomes]
rs7957187	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7958958	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962107	1.00[EUR][1000 genomes]
rs7970035	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7975405	1.00[EUR][1000 genomes]
rs7980782	1.00[EUR][1000 genomes]
rs9738143	1.00[AFR][1000 genomes];1.00[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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 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	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56449200-56456400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:56454400-56456200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:56454400-56456600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:56454400-56456600	Weak transcription	HMEC	breast
6	chr12:56454400-56456800	Weak transcription	NHEK	skin
7	chr12:56454400-56457000	Weak transcription	Osteobl	bone
8	chr12:56454400-56467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:56455600-56456400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:56456000-56456200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:56456000-56465800	Weak transcription	Placenta Amnion	Placenta Amnion

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